52301202 |
Whole gene |
Large Deletion |
Full Gene Deletion |
|
Pathogenic |
|
Shoukier (2008) |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: Two different deletions reported by Shoukier 2008: g.(50520840_50737745)del and g.(50583043_50604812)del |
52301433 |
Exon 1 (5'UTR) |
Regulatory |
c.-52G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52301452 |
Exon 1 (5'UTR) |
Regulatory |
c.-33C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52301462 |
Exon 1 (5'UTR) |
Regulatory |
c.-23C>T |
|
Pending classification |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306216 |
Intron 1 |
Intronic |
c.-5-38C>T |
|
Pending classification |
|
Abdalla (2003) Lenato (2006) Simon (2006) Olivieri (2007) Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Pathogenic mutation detected in ENG (Edinburgh). |
52306259 |
Exon 2-6 |
Large Deletion |
EX2-6del |
|
Pathogenic |
|
Shoukier (2008) |
 Clinical Features: E T H F Co-segregation: mRNA study: Functional study: Comments: |
52306259 |
Exon 2-7 |
Large Deletion |
EX2-7del |
|
Pathogenic |
|
Torring (2014) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52306263 |
Exon 2 |
Missense |
c.5C>T |
p.Thr2Ile |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306282 |
Exon 2 |
Missense |
c.24A>T |
p.Lys8Asn |
Pending classification |
|
Pousada (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306289 |
Exon 2 |
Deletion |
c.31_50del |
p.Leu11Glyfs*20 |
Pathogenic |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306295 |
Exon 2 |
Deletion |
c.37del |
p.Leu13Cysfs*2 |
Pathogenic |
|
Trembath (2001) Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: P C H Co-segregation: mRNA study: Functional study: Comments: |
52306308 |
Exon 2 |
Duplication |
c.50dup |
p.Leu17Phefs*21 |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.50-51insT (McDonald 2011) |
52306308 |
Exon 2 |
Deletion |
c.50_53del |
p.Leu17* |
Pathogenic |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52310002 |
Exon 3 |
Indel |
c.268_274delins57 |
p.Cys90fs |
Pathogenic |
|
Mutize (2020) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52306319 |
Exon 3-8 |
Large Deletion |
EX3-8del |
|
Pathogenic |
|
Prigoda (2006) Richards-Yutz (2010) Boeri (2013) |
 Clinical Features: E T G P F Co-segregation: mRNA study: Functional study: Comments: c.61_1247del. Prigoda (2006) reported this mutation as exon 3-8 deletion with g.5365_9652del4288, p.G21_G416del. |
52306320 |
Intron 2 |
Splice Site |
c.61+1G>A |
|
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306329 |
Intron 2 |
Splice Site |
c.61+10G>A |
|
Pending classification |
|
Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306341 |
Intron 2 |
Intronic |
c.61+22A>G |
|
Benign |
|
Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Polymorphism - has pathogenic mutation in ENG (Edinburgh). |
52306814 |
Intron 2 |
Intronic |
c.62-69G>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306886 |
Exon 3 |
Deletion |
c.65del |
p.Asp22Alafs*3 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306890 |
Exon 3 |
Deletion |
c.69del |
p.Val24* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306895 |
Exon 3 |
Indel |
c.74_78delins176 |
|
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52306898 |
Exon 3 |
Missense |
c.77C>T |
p.Pro26Leu |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306902 |
Exon 3 |
Duplication |
c.81dup |
p.Arg28Serfs*10 |
Pathogenic |
|
Lee (2009) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306907 |
Exon 3 |
Deletion |
c.86del |
p.Gly29Alafs*4 |
Pathogenic |
|
Abdalla (2003) Bayrak-Toydemir (2004) Letteoer (2005) Reported by ARUP Laboratories |
 Clinical Features: P C H G Co-segregation: mRNA study: Functional study: Comments: |
52306908 |
Exon 3 |
Silent |
c.87C>T |
p.Gly29Gly |
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306909 |
Exon 3 |
Missense |
c.88C>T |
p.Pro30Ser |
Pending classification |
|
Bossler (2006) |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: |
52306911 |
Exon 3 |
Silent |
c.90G>A |
p.Pro30Pro |
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306916 |
Exon 3 |
Missense |
c.95T>G |
p.Val32Gly |
Pending classification |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306916 |
Exon 3 |
Missense |
c.95T>A |
p.Val32Glu |
Pending classification |
|
Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306921 |
Exon 3 |
Duplication |
c.100dup |
p.Cys34Leufs*4 |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.100_101insT (McDonald 2011) |
52306921 |
Exon 3 |
Deletion |
c.100_115del |
p.Cys34Hisfs*15 |
Pathogenic |
|
Schulte (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306922 |
Exon 3 |
Missense |
c.101G>A |
p.Cys34Tyr |
Pending classification |
|
Bossler (2006) Al-Saleh (2011) |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: newborn with liver AVM/CHF |
52306923 |
Exon 3 |
Nonsense |
c.102C>A |
p.Cys34* |
Pathogenic |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306927 |
Exon 3 |
Missense |
c.106T>C |
p.Cys36Arg |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306928 |
Exon 3 |
Missense |
c.107G>A |
p.Cys36Tyr |
Pending classification |
|
Fernandez-L (2006) Fontalba (2008) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52306933 |
Exon 3 |
Missense |
c.112A>T |
p.Ser38Cys |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments: |
52306936 |
Exon 3 |
Duplication |
c.115_118dup |
p.His40Profs*130 |
Pathogenic |
|
Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306942 |
Exon 3 |
Missense |
c.121T>C |
p.Cys41Arg |
Pathogenic |
|
Lenato (2006) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306949 |
Exon 3 |
Deletion |
c.128_132del |
p.Gly43Aspfs*124 |
Pathogenic |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52306950 |
Exon 3 |
Deletion |
c.129del |
p.Pro44Leufs*10 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306957 |
Exon 3 |
Missense |
c.136T>G |
p.Cys46Gly |
Pending classification |
|
Al-Saleh (2011) |
 Clinical Features: F Co-segregation: mRNA study: Functional study: Comments: newborn with liver AVM/CHF |
52306957 |
Exon 3 |
Indel |
c.136_137delinsCT |
p.Cys46Leu |
Pending classification |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52306959 |
Exon 3 |
Nonsense |
c.138C>A |
p.Cys46* |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52306960 |
Exon 3 |
Insertion |
c.139_140insCG |
p.Arg47Profs*8 |
Pathogenic |
|
Torring (2014) |
 Clinical Features: E T G F Co-segregation: mRNA study: Functional study: Comments: |
52306960 |
Exon 3 |
Duplication |
c.139dup |
p.Arg47Profs*122 |
Pathogenic |
|
Bossler (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52306961 |
Exon 3 |
Missense |
c.140G>C |
p.Arg47Pro |
Suspected Pathogenic |
|
Fernandez-L (2006) Wehner (2006) Nishida (2012) Reported by ARUP Laboratories |
 Clinical Features: E T H C Co-segregation: mRNA study: Functional study: Comments: |
52306963 |
Exon 3 |
Missense |
c.142G>A |
p.Gly48Arg |
Pending classification |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306964 |
Exon 3 |
Missense |
c.143G>A |
p.Gly48Glu |
Pathogenic |
|
Brusgaard (2004) Olivieri (2007) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: Reported as c.145G>A,c.145delG,c.147insT Abdalla (2000), Bayrak-Toydemir (2004) |
52306964 |
Exon 3 |
Indel |
c.143_147delinsAGCCT |
p.Gly48_Ala49 delinsGluPro |
Pending classification |
|
Abdalla (2000) Bayrak-Toydemir (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306966 |
Exon 3 |
Duplication |
c.145dup |
p.Ala49Glyfs*120 |
Pathogenic |
|
Klaus (1998) Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2007) Fontalba (2008) McDonald (2011) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T H F Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.139_140insG Bayrak-Toydemir (2004) |
52306966 |
Exon 3 |
Deletion |
c.145del |
p.Ala49Profs*5 |
Pathogenic |
|
Olivieri (2002) Olivieri (2007) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: Reported as c.145G>A,c.145delG,c.147insT Abdalla (2000), Bayrak-Toydemir (2004) |
52306968 |
Exon 3 |
Deletion |
c.147del |
p.Trp50Glyfs*4 |
Pathogenic |
|
Jia (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306969 |
Exon 3 |
Missense |
c.148T>G |
p.Trp50Gly |
Pending classification |
|
Argyriou (2006) |
 Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments: |
52306970 |
Exon 3 |
Nonsense |
c.149G>A |
p.Trp50* |
Pathogenic |
|
Kuehl (2005) Wehner (2006) |
 Clinical Features: E T P H Co-segregation: mRNA study: Functional study: Comments: |
52306971 |
Exon 3 |
Missense |
c.150G>T |
p.Trp50Cys |
Pending classification |
|
Berg (1997) Klaus (1998) Abdalla (2000) Abdalla (2003) Bayrak-Toydemir (2004) Submitted by Edinburgh |
 Clinical Features: P C H G Co-segregation: mRNA study: Functional study: Comments: Published as pathogenic. Largest Grantham difference possible. Conserved residue, likely to be involved in disulphide bond formation, so removal likely to disrupt protein folding (Edinburgh). |
52306971 |
Exon 3 |
Nonsense |
c.150G>A |
p.Trp50* |
Pathogenic |
|
Letteoer (2005) Sankelo (2008) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306973 |
Exon 3 |
Missense |
c.152G>A |
p.Cys51Tyr |
Pathogenic |
|
Klaus (1998) Olivieri (2002) Bayrak-Toydemir (2004) Giordano (2006) Lenato (2006) Olivieri (2006) Olivieri (2007) Ricard (2010) Canzonieri (2014) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52306975 |
Exon 3 |
Missense |
c.154A>G |
p.Thr52Ala |
Pending classification |
|
Bossler (2006) |
 Clinical Features: T A Co-segregation: mRNA study: Functional study: Comments: |
52306975 |
Exon 3 |
Deletion |
c.154_169del |
p.Thr52Glyfs*65 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306976 |
Exon 3 |
Deletion |
c.155del |
p.Thr52Lysfs*2 |
Pathogenic |
|
Torring (2014) |
 Clinical Features: E T G F Co-segregation: mRNA study: Functional study: Comments: |
52306985 |
Exon 3 |
Missense |
c.164T>C |
p.Leu55Pro |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: No pathogenic sequence variants detected in ENG, SIFT - not tolerated (Edinburgh). |
52306985 |
Exon 3 |
Deletion |
c.164_169del |
p.Leu55_Val56del |
Pending classification |
|
Olivieri (2006) Olivieri (2007) Canzonieri (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52306993 |
Exon 3 |
Nonsense |
c.172G>T |
p.Glu58* |
Pathogenic |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2006) Olivieri (2007) |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52306997 |
Exon 3 |
Missense |
c.176A>T |
p.Glu59Val |
Pending classification |
|
Pousada (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307004 |
Exon 3 |
Deletion |
c.183del |
p.Arg61Serfs*61 |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52307011 |
Exon 3 |
Deletion |
c.190del |
p.Gln64Argfs*58 |
Pathogenic |
|
Letteoer (2005) Schulte (2005) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307012 |
Exon 3 |
Deletion |
c.191del |
p.Gln64Argfs*58 |
Pathogenic |
|
Bossler (2006) Reported by ARUP Laboratories |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: |
52307014 |
Exon 3 |
Nonsense |
c.193G>T |
p.Glu65* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307018 |
Exon 3 |
Missense |
c.197A>C |
p.His66Pro |
Pending classification |
|
Argyriou (2006) Lenato (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307020 |
Exon 3 |
Missense |
c.199C>T |
p.Arg67Trp |
Pathogenic |
|
Olivieri (2002) Bayrak-Toydemir (2004) Abdalla (2005) Kuehl (2005) Olivieri (2007) Chen (2013) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52307020 |
Exon 3 |
Missense |
c.199C>G |
p.Arg67Gly |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307021 |
Exon 3 |
Missense |
c.200G>A |
p.Arg67Gln |
Pathogenic |
|
Berg (1997) Bayrak-Toydemir (2004) Schulte (2005) Giordano (2006) Lenato (2006) Olivieri (2007) Brakensiek (2008) Canzonieri (2014) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P C H F Co-segregation: mRNA study: Functional study: Comments: No RNA studies done according to refs on HHT mutation database. Likely pathogenic (Edinburgh). |
52307023 |
Exon 3 |
Missense |
c.202G>T |
p.Gly68Cys |
Pending classification |
|
Fernandez-L (2006) |
 Clinical Features: E T H G Co-segregation: mRNA study: Functional study: Comments: |
52307024 |
Exon 3 |
Duplication |
c.203dup |
p.Cys69Leufs*100 |
Pathogenic |
|
Olivieri (2006) Assis (2007) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Assis (2007) Reported it as c.204-205insG |
52307024 |
Exon 3 |
Deletion |
c.203del |
p.Gly68Alafs*54 |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307026 |
Exon 3 |
Duplication |
c.205_209dup |
p.Asn71Alafs*53 |
Pathogenic |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307026 |
Exon 3 |
Missense |
c.205T>C |
p.Cys69Arg |
Pending classification |
|
Argyriou (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307027 |
Exon 3 |
Missense |
c.206G>T |
p.Cys69Phe |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307027 |
Exon 3 |
Missense |
c.206G>A |
p.Cys69Tyr |
Pending classification |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307028 |
Exon 3 |
Silent |
c.207C>T |
p.Cys69Cys |
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307028 |
Exon 3 |
Nonsense |
c.207C>A |
p.Cys69* |
Pathogenic |
|
Richards-Yutz (2010) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307029 |
Exon 3 |
Missense |
c.208G>A |
p.Gly70Arg |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E P F Co-segregation: mRNA study: Functional study: Comments: |
52307035 |
Exon 3 |
Deletion |
c.214_219del |
p.Leu72_His73del |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments: Patient also has ENG p.Arg571His (McDonald 2011) |
52307036 |
Exon 3 |
Deletion |
c.215del |
p.Leu72Cysfs*50 |
Pathogenic |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307039 |
Exon 3 |
Insertion |
c.218_219insAA |
p.His73Glnfs*50 |
Pathogenic |
|
Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307050 |
Exon 3 |
Deletion |
c.229_240del |
p.Cys77_Arg80del |
Pending classification |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307051 |
Exon 3 |
Missense |
c.230G>A |
p.Cys77Tyr |
Likely Pathogenic |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307052 |
Exon 3 |
Missense |
c.231C>G |
p.Cys77Trp |
Pending classification |
|
Klaus (1998) Bayrak-Toydemir (2004) Ricard (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307056 |
Exon 3 |
Missense |
c.235G>A |
p.Gly79Arg |
Pending classification |
|
Olivieri (2006) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307057 |
Exon 3 |
Missense |
c.236G>A |
p.Gly79Glu |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307058 |
Exon 3 |
Duplication |
c.237dup |
p.Arg80Alafs*89 |
Pathogenic |
|
Abdalla (2003) Bayrak-Toydemir (2004) |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: Previously repoted as c.237_238insG. |
52307064 |
Exon 3 |
Duplication |
c.243dup |
p.Thr82Hisfs*87 |
Pathogenic |
|
Lesca (2004) Bayrak-Toydemir (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307064 |
Exon 3 |
Deletion |
c.243del |
p.Thr82Profs*40 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307065 |
Exon 3 |
Deletion |
c.244_246del |
p.Thr82del |
Pending classification |
|
Fernandez-L (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307067 |
Exon 3 |
Deletion |
c.246del |
p.Glu83Serfs*39 |
Pathogenic |
|
Kuehl (2005) |
 Clinical Features: H Co-segregation: mRNA study: Functional study: Comments: |
52307073 |
Exon 3 |
Duplication |
c.252dup |
p.Val85Argfs*84 |
Pathogenic |
|
Kim (2011) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307074 |
Exon 3 |
Missense |
c.253G>A |
p.Val85Ile |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307080 |
Exon 3 |
Missense |
c.259C>G |
p.His87Asp |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: |
52307080 |
Exon 3 |
Deletion |
c.259del |
p.His87Thrfs*35 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307084 |
Exon 3 |
Missense |
c.263A>G |
p.Tyr88Cys |
Pathogenic |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307086 |
Exon 3 |
Missense |
c.265T>C |
p.Cys89Arg |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307087 |
Exon 3 |
Missense |
c.266G>A |
p.Cys89Tyr |
Pending classification |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Segregated with the disorder in two families (Danish Group) |
52307090 |
Exon 3 |
Missense |
c.269G>T |
p.Cys90Phe |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307090 |
Exon 3 |
Missense |
c.269G>A |
p.Cys90Tyr |
Pathogenic |
|
Lesca (2006) Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307091 |
Exon 3 |
Missense |
c.270C>G |
p.Cys90Trp |
Pending classification |
|
Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307091 |
Exon 3 |
Nonsense |
c.270C>A |
p.Cys90* |
Pathogenic |
|
McDonald (2009) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307104 |
Exon 3 |
Missense |
c.283T>C |
p.Cys95Arg |
Pending classification |
|
Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307107 |
Exon 3 |
Missense |
c.286A>G |
p.Asn96Asp |
Pending classification |
|
Klaus (1998) Bayrak-Toydemir (2004) Ricard (2010) |
 Clinical Features: P Co-segregation: mRNA study: Functional study: Comments: |
52307108 |
Exon 3 |
Missense |
c.287A>G |
p.Asn96Ser |
Pending classification |
|
Richards-Yutz (2010) Jia (2012) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307110 |
Exon 3 |
Deletion |
c.289_295del |
p.His97Cysfs*23 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307110 |
Exon 3 |
Deletion |
c.289_294del |
p.His97_Asn98del |
Pending classification |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2006) Olivieri (2007) Canzonieri (2014) |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52307114 |
Exon 3 |
Missense |
c.293A>G |
p.Asn98Ser |
VUS |
|
Prigoda (2006) Brakensiek (2008) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: H Co-segregation: mRNA study: Functional study: Comments: |
52307119 |
Exon 3 |
Deletion |
c.298del |
p.Ser100Profs*22 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307122 |
Exon 3 |
Deletion |
c.301_307del |
p.Leu101Trpfs*19 |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307135 |
Intron 3 |
Splice Site |
c.313+1G>A |
|
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307145 |
Intron 3 |
Intronic |
c.313+11C>T |
|
Benign |
|
Lenato (2006) Olivieri (2007) Smoot (2009) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Polymorphism - Found in patient with ENG mutation (Edinburgh). |
52307154 |
Intron 3 |
Intronic |
c.313+20C>A |
|
Pending classification |
|
Pousada (2015) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307278 |
Intron 3 |
Intronic |
c.314-65G>C |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307294 |
Intron 3 |
Intronic |
c.314-49G>C |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307294 |
Intron 3 |
Intronic |
c.314-49G>A |
|
Pending classification |
|
Gedge (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307308 |
Intron 3 |
Intronic |
c.314-35A>G |
|
Benign |
|
Prigoda (2006) Simon (2006) Smoot (2009) Pawlikowska (2005) Reported by ARUP Laboratories |
 Clinical Features: C Co-segregation: mRNA study: Functional study: Comments: |
52307340 |
Intron 3 |
Splice Site |
c.314-3C>G |
|
Pending classification |
|
Prigoda (2006) Olivieri (2007) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307343 |
Exon 4 |
Large Deletion |
EX4del |
|
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: P Co-segregation: mRNA study: Functional study: Comments: c.314-?_525+? |
52307348 |
Exon 4 |
Deletion |
c.319del |
p.Gln107Asnfs*15 |
Pathogenic |
|
Argyriou (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307350 |
Exon 4 |
Deletion |
c.321del |
p.Gln107Hisfs*15 |
Pathogenic |
|
Olivieri (2006) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307350 |
Exon 4 |
Missense |
c.321A>C |
p.Gln107His |
VUS |
|
Personal communication with Dr. Lena Samuelsson |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307358 |
Exon 4 |
Nonsense |
c.329C>A |
p.Ser110* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307359 |
Exon 4 |
Silent |
c.330G>A |
p.Ser110Ser |
Benign |
|
Simon (2006) Gedge (2007) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Silent change, polymorphism on HHT database from published data (Edinburgh). |
52307363 |
Exon 4 |
Nonsense |
c.334C>T |
p.Gln112* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307381 |
Exon 4 |
Nonsense |
c.352C>T |
p.Gln118* |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307382 |
Exon 4 |
Duplication |
c.353_360dup |
p.Leu121Serfs*4 |
Pathogenic |
|
Fontalba (2008) Reported by ARUP Laboratories |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52307383 |
Exon 4 |
Missense |
c.354G>C |
p.Gln118His |
Pending classification |
|
|
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307393 |
Exon 4 |
Deletion |
c.364del |
p.Ile122Serfs*43 |
Pathogenic |
|
Richards-Yutz (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307403 |
Exon 4 |
Duplication |
c.374_375dup |
p.Val126Profs*40 |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307405 |
Exon 4 |
Missense |
c.376G>A |
p.Val126Met |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307410 |
Exon 4 |
Silent |
c.381G>A |
p.Leu127Leu |
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307412 |
Exon 4 |
Missense |
c.383C>A |
p.Ala128Asp |
Pending classification |
|
Abdalla (2005) |
 Clinical Features: E T G Co-segregation: mRNA study: Functional study: Comments: |
52307429 |
Exon 4 |
Deletion |
c.400del |
p.Ala134Profs*31 |
Pathogenic |
|
Klaus (1998) Bayrak-Toydemir (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307430 |
Exon 4 |
Missense |
c.401C>A |
p.Ala134Asp |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307435 |
Exon 4 |
Deletion |
c.406_409del |
p.Gly136Serfs*28 |
Pathogenic |
|
Klaus (1998) Bayrak-Toydemir (2004) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307442 |
Exon 4 |
Missense |
c.413T>C |
p.Leu138Pro |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307452 |
Exon 4 |
Nonsense |
c.423G>A |
p.Trp141* |
Pathogenic |
|
Berg (1997) Abdalla (2003) Bayrak-Toydemir (2004) McDonald (2011) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P H G Co-segregation: mRNA study: Functional study: Comments: |
52307459 |
Exon 4 |
Nonsense |
c.430C>T |
p.Arg144* |
Pathogenic |
|
Abdalla (2003) Bayrak-Toydemir (2004) Brusgaard (2004) Lesca (2004) Abdalla (2005) Kjeldsen (2005) Schulte (2005) Giordano (2006) Lenato (2006) Olivieri (2006) Olivieri (2007) Canzonieri (2014) Komiyama (2014) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52307464 |
Exon 4 |
Duplication |
c.435dup |
p.Arg146Glufs*23 |
Pathogenic |
|
Bossler (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307464 |
Exon 4 |
Deletion |
c.435del |
p.Arg146Glyfs*19 |
Pathogenic |
|
Fernandez-L (2005) Fernandez-L (2006) Olivieri (2007) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307467 |
Exon 4 |
Indel |
c.438_439delinsTT |
p.Arg146_Gln503 delinsSer |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Patient also has ENG c.7C>T, p.Arg3Cys (Edinburgh). |
52307468 |
Exon 4 |
Nonsense |
c.439C>T |
p.Gln147* |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307477 |
Exon 4 |
Nonsense |
c.448C>T |
p.Gln150* |
Pathogenic |
|
Lenato (2006) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307503 |
Exon 4 |
Silent |
c.474A>T |
p.Gly158Gly |
Pending classification |
|
Bossler (2006) |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: |
52307504 |
Exon 4 |
Nonsense |
c.475G>T |
p.Glu159* |
Pathogenic |
|
Berg (1997) Bayrak-Toydemir (2004) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307505 |
Exon 4 |
Missense |
c.476A>T |
p.Glu159Val |
Pending classification |
|
Pousada (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307505 |
Exon 4 |
Deletion |
c.476_477del |
p.Glu159Valfs*9 |
Pathogenic |
|
Olivieri (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307509 |
Exon 4 |
Duplication |
c.480_486dup |
p.Ile163Glnfs*8 |
Pathogenic |
|
Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307509 |
Exon 4 |
Deletion |
c.480_481del |
p.Leu162Hisfs*6 |
Pathogenic |
|
Schulte (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307510 |
Exon 4 |
Missense |
c.481A>G |
p.Ser161Gly |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: T P Co-segregation: mRNA study: Functional study: Comments: |
52307513 |
Exon 4 |
Missense |
c.484C>T |
p.Leu162Phe |
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307529 |
Exon 4 |
Missense |
c.500C>G |
p.Ser167Cys |
Pending classification |
|
Gedge (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307534 |
Exon 4 |
Nonsense |
c.505C>T |
p.Gln169* |
Pathogenic |
|
Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307539 |
Exon 4 |
Deletion |
c.510del |
p.Asp171Thrfs*87 |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307545 |
Exon 4 |
Duplication |
c.516dup |
p.Met173Hisfs*9 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307554 |
Exon 4 |
Deletion |
c.525_525+1del |
p.Asp176Thrfs*82 |
Pathogenic |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307555 |
Intron 4 |
Splice Site |
c.525+1G>C |
|
Pathogenic |
|
Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307555 |
Intron 4 |
Splice Site |
c.525+1G>A |
|
Pathogenic |
|
Gedge (2007) Olivieri (2007) Fontalba (2008) Reported by ARUP Laboratories |
 Clinical Features: E T P H Co-segregation: mRNA study: Functional study: Comments: |
52307555 |
Intron 4 |
Splice Site |
c.525+1del |
|
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T G Co-segregation: mRNA study: Functional study: Comments: |
52307556 |
Intron 4 |
Splice Site |
c.525+2T>G |
|
Pathogenic |
|
Richards-Yutz (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307556 |
Intron 4 |
Splice Site |
c.525+2T>C |
|
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307557 |
Intron 4 |
Splice Site |
c.525+3A>T |
|
Pending classification |
|
Xie (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307557 |
Intron 4 |
Splice Site |
c.525+3A>G |
|
Pathogenic |
|
Gedge (2007) Bayrak-Toydemir (2008) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Splice prediction - deletes donor site at 3' exon 4 (Edinburgh). |
52307736 |
Intron 4 |
Intronic |
c.526-22A>G |
|
VUS |
|
Olivieri (2007) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307751 |
Intron 4 |
Splice Site |
c.526-7C>G |
|
Pending classification |
|
Argyriou (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307755 |
Intron 4 |
Splice Site |
c.526-3C>G |
|
Pending classification |
|
Torring (2014) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307757 |
Intron 4 |
Splice Site |
c.526-1G>A |
|
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307758 |
Exon 5 |
Missense |
c.526G>T |
p.Asp176Tyr |
Pending classification |
|
Argyriou (2006) |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52307758 |
Exon 5 |
Deletion |
c.526del |
p.Asp176Thrfs*82 |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307768 |
Exon 5 |
Missense |
c.536A>T |
p.Asp179Val |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Not previously published or on HHT database. AlignGVGD and SIFT both predict benign. No PolyPhen2 data available yet. Rat sequence has Val at this position. Asp179Ala reported as pathogenic in HHT database: However, later functional study (BMP9 response) published by Ricard et al (2010) says it is not pathogenic. Likely non-pathogenic (Edinburgh). |
52307768 |
Exon 5 |
Missense |
c.536A>C |
p.Asp179Ala |
Pending classification |
|
Harrison (2003) Ricard (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307772 |
Exon 5 |
Insertion |
c.540_541insA |
p.Asp181Argfs*44 |
Pathogenic |
|
Wehner (2006) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307775 |
Exon 5 |
Silent |
c.543C>T |
p.Asp181Asp |
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307782 |
Exon 5 |
Deletion |
c.550del |
p.Thr184Glnfs*74 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307795 |
Exon 5 |
Deletion |
c.563del |
p.Ser188* |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: C Co-segregation: mRNA study: Functional study: Comments: |
52307799 |
Exon 5 |
Deletion |
c.567del |
p.Leu190Serfs*68 |
Pathogenic |
|
Fontalba (2008) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307805 |
Exon 5 |
Deletion |
c.573del |
p.Phe192Serfs*66 |
Pathogenic |
|
Schulte (2005) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307818 |
Exon 5 |
Missense |
c.586A>G |
p.Arg196Gly |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307822 |
Exon 5 |
Missense |
c.590C>A |
p.Thr197Lys |
Likely Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307822 |
Exon 5 |
Missense |
c.590C>T |
p.Thr197Ile |
Pending classification |
|
Bossler (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52307823 |
Exon 5 |
Silent |
c.591A>G |
p.Thr197Thr |
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307825 |
Exon 5 |
Missense |
c.593T>A |
p.Val198Glu |
Pending classification |
|
Chen (2013) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307825 |
Exon 5 |
Missense |
c.595G>C |
p.Ala199Pro |
Pending classification |
1 |
Greco (2018) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307830 |
Exon 5 |
Missense |
c.598C>G |
p.Arg200Gly |
Pending classification |
|
Komiyama (2014) Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307833 |
Exon 5 |
Nonsense |
c.601C>T |
p.Gln201* |
Pathogenic |
|
Richards-Yutz (2010) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52307833 |
Exon 5 |
Missense |
c.601C>A |
p.Gln201Lys |
Pending classification |
|
Torring (2014) |
 Clinical Features: E T G F Co-segregation: mRNA study: Functional study: Comments: |
52307834 |
Exon 5 |
Missense |
c.602A>G |
p.Gln201Arg |
Pending classification |
|
Girerd (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307834 |
Exon 5 |
Missense |
c.602A>C |
p.Gln201Pro |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments: |
52307843 |
Exon 5 |
Missense |
c.611T>G |
p.Leu204Trp |
Suspected Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52307846 |
Exon 5 |
Missense |
c.614T>G |
p.Val205Gly |
VUS |
|
Komiyama (2014) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307849 |
Exon 5 |
Missense |
c.617A>G |
p.Glu206Gly |
Pending classification |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307849 |
Exon 5 |
Deletion |
c.617_625del |
p.Glu206_Val208del |
Pending classification |
|
Canzonieri (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307852 |
Exon 5 |
Deletion |
c.620del |
p.Cys207Leufs*51 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307855 |
Exon 5 |
Duplication |
c.623_624dup |
p.Gly209Trpfs*50 |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307857 |
Exon 5 |
Splice Site |
c.625G>C |
p.Gly209Arg |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: |
52307858 |
Intron 5 |
Splice Site |
c.625+1G>C |
|
Pathogenic |
|
Bereczky (2015) |
 Clinical Features: E T H G F Co-segregation: mRNA study: Functional study: Comments: |
52307858 |
Intron 5 |
Splice Site |
c.625+1delinsTTT |
|
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307861 |
Intron 5 |
Splice Site |
c.625+4A>G |
|
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Donor splice site destroyed. 3/5 programmes (Edinburgh). |
52307864 |
Intron 5 |
Splice Site |
c.625+7_625+17del |
|
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307898 |
Intron 5 |
Intronic |
c.625+41C>T |
|
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Possible polymorphism (Edinburgh). |
52307898 |
Intron 5 |
Intronic |
c.625+41C>G |
|
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Very unlikely to affect splicing (Edinburgh). |
52307913 |
Intron 5 |
Intronic |
c.625+56G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307965 |
Intron 5 |
Intronic |
c.625+108_625+109insATTCCATA |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52307967 |
Intron 5 |
Intronic |
c.625+110_625+130del |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308003 |
Intron 5 |
Intronic |
c.625+146C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308021 |
Intron 5 |
Intronic |
c.625+164T>C |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308022 |
Intron 5 |
Intronic |
c.625+165T>C |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308047 |
Intron 5 |
Intronic |
c.626-176G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308145 |
Intron 5 |
Intronic |
c.626-78C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308163 |
Intron 5 |
Intronic |
c.626-60_626-59delinsT |
|
Benign |
|
Lenato (2006) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308163 |
Intron 5 |
Intronic |
c.626-58_626-60del |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308164 |
Intron 5 |
Intronic |
c.626-59del |
|
Pending classification |
|
Gedge (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308164 |
Intron 5 |
Intronic |
c.626-59_626-58insT |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308166 |
Intron 5 |
Intronic |
c.626-57dup |
|
Pending classification |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308170 |
Intron 5 |
Intronic |
c.626-53C>T |
|
Benign |
|
Prigoda (2006) Olivieri (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308193 |
Intron 5 |
Intronic |
c.626-30G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308214 |
Intron 5 |
Splice Site |
c.626-9_629del |
|
Pathogenic |
|
Argyriou (2006) |
 Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: |
52308219 |
Intron 5 |
Splice Site |
c.626-5_634del |
|
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308220 |
Intron 5 |
Splice Site |
c.626-3C>G |
|
Pathogenic |
|
Giordano (2006) Lenato (2006) McDonald (2011) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P H F Co-segregation: mRNA study: Functional study: Comments: Previously reported on HHT database. All programmes predict abolish acceptor splice site (Edinburgh). |
52308229 |
Exon 6 |
Missense |
c.632G>T |
p.Gly211Val |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308229 |
Exon 6 |
Missense |
c.632G>A |
p.Gly211Asp |
Pathogenic |
|
Harrison (2003) Bayrak-Toydemir (2004) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308236 |
Exon 6 |
Nonsense |
c.639T>G |
p.Tyr213* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308238 |
Exon 6 |
Deletion |
c.641del |
p.Gly214Alafs*44 |
Pathogenic |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308240 |
Exon 6 |
Nonsense |
c.643G>T |
p.Glu215* |
Pathogenic |
|
Richards-Yutz (2010) Submitted by Edinburgh |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: Nonsense variant. Not on HHT database (Edinburgh). |
52308240 |
Exon 6 |
Missense |
c.643G>A |
p.Glu215Lys |
Suspected Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308244 |
Exon 6 |
Missense |
c.647T>G |
p.Val216Gly |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52308246 |
Exon 6 |
Missense |
c.649T>G |
p.Trp217Gly |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52308247 |
Exon 6 |
Nonsense |
c.650G>A |
p.Trp217* |
Pathogenic |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308248 |
Exon 6 |
Nonsense |
c.651G>A |
p.Trp217* |
Pathogenic |
|
Bossler (2006) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52308250 |
Exon 6 |
Indel |
c.653_654delinsCC |
p.Arg218Pro |
Pending classification |
|
Chen (2013) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308253 |
Exon 6 |
Missense |
c.656G>A |
p.Gly219Asp |
Suspected Pathogenic |
|
Bossler (2006) Lenato (2006) Reported by ARUP Laboratories |
 Clinical Features: E A F Co-segregation: mRNA study: Functional study: Comments: |
52308258 |
Exon 6 |
Missense |
c.661T>G |
p.Trp221Gly |
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308259 |
Exon 6 |
Nonsense |
c.662G>A |
p.Trp221* |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Also reported with novel ENG c.1019C>T; p.Pro340Leu (McDonald (2011)) |
52308260 |
Exon 6 |
Nonsense |
c.663G>A |
p.Trp221* |
Pathogenic |
|
Fontalba (2008) |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52308261 |
Exon 6 |
Deletion |
c.664_668del |
p.His222* |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308263 |
Exon 6 |
Silent |
c.666C>T |
p.His222His |
Suspected Benign |
|
Prigoda (2006) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308264 |
Exon 6 |
Missense |
c.667G>C |
p.Gly223Arg |
Pending classification |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308267 |
Exon 6 |
Missense |
c.670G>A |
p.Glu224Lys |
VUS |
|
Lesca (2006) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308270 |
Exon 6 |
Duplication |
c.673dup |
p.Ser225Lysfs*12 |
Pathogenic |
|
Richards-Yutz (2010) |
 Clinical Features: T Co-segregation: mRNA study: Functional study: Comments: |
52308270 |
Exon 6 |
Missense |
c.673A>T |
p.Ser225Cys |
Pending classification |
|
Pousada (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308270 |
Exon 6 |
Deletion |
c.673_674del |
p.Ser225Cysfs*11 |
Pathogenic |
|
Fontalba (2008) Submitted by Edinburgh |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: Frameshift. Pathogenic and on HHT database (Edinburgh). |
52308273 |
Exon 6 |
Missense |
c.676G>C |
p.Val226Leu |
Pending classification |
|
Torring (2014) |
 Clinical Features: E T P H Co-segregation: mRNA study: Functional study: Comments: |
52308274 |
Exon 6 |
Missense |
c.677T>A |
p.Val226Glu |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52308279 |
Exon 6 |
Deletion |
c.682del |
p.Val228Serfs*30 |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308280 |
Exon 6 |
Missense |
c.683T>A |
p.Val228Asp |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52308283 |
Exon 6 |
Missense |
c.686A>T |
p.Lys229Met |
Pending classification |
|
Giordano (2006) Lenato (2006) |
 Clinical Features: F Co-segregation: mRNA study: Functional study: Comments: |
52308283 |
Exon 6 |
Missense |
c.686A>G |
p.Lys229Arg |
Pending classification |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308293 |
Exon 6 |
Deletion |
c.696_698del |
p.Ser233del |
Pathogenic |
|
Johnson (1995) Johnson (1996) Berg (1997) Abdalla (2000) Bayrak-Toydemir (2004) Lesca (2004) Bossler (2006) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: Previously described as c.694-696delCTC, renamed in line with standard nomenclature. |
52308295 |
Exon 6 |
Missense |
c.698C>T |
p.Ser233Leu |
Pathogenic |
|
Argyriou (2006) McDonald (2009)McDonald (2011) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: Patient also has ENG p.Pro198Leu (McDonald 2011) |
52308295 |
Exon 6 |
Nonsense |
c.698C>A |
p.Ser233* |
Pathogenic |
|
Brakensiek (2008) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308301 |
Exon 6 |
Deletion |
c.704del |
p.Asp235Valfs*23 |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308306 |
Exon 6 |
Nonsense |
c.709C>T |
p.Gln237* |
Pathogenic |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308306 |
Exon 6 |
Missense |
c.709C>A |
p.Gln237Lys |
Pending classification |
|
Bossler (2006) |
 Clinical Features: A F Co-segregation: mRNA study: Functional study: Comments: |
52308313 |
Exon 6 |
Nonsense |
c.716G>A |
p.Trp239* |
Pathogenic |
|
Prigoda (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52308321 |
Exon 6 |
Missense |
c.724G>A |
p.Glu242Lys |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308340 |
Exon 6 |
Deletion |
c.743_744del |
p.Thr248Serfs*143 |
Pathogenic |
|
Wehner (2006) Richards-Yutz (2010) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52308344 |
Exon 6 |
Silent |
c.747G>A |
p.Val249Val |
Benign |
|
Lenato (2006) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308355 |
Exon 6 |
Missense |
c.758A>G |
p.His253Arg |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308357 |
Exon 6 |
Deletion |
c.760_762del |
p.Asp254del |
Pathogenic |
|
Trembath (2001) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: |
52308357 |
Exon 6 |
Deletion |
c.759_761del |
p.Asp254del |
Pathogenic |
|
Bayrak-Toydemir (2004) Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: P Co-segregation: mRNA study: Functional study: Comments: See entry for c.760_762delGAC. |
52308369 |
Exon 6 |
Splice Site |
c.772G>A |
p.Gly258Ser |
VUS |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52308372 |
Intron 6 |
Splice Site |
c.772+3_772+4dup |
|
Pending classification |
|
Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308374 |
Intron 6 |
Splice Site |
c.772+5G>A |
|
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308390 |
Intron 6 |
Intronic |
c.772+21T>A |
|
Pending classification |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308393 |
Intron 6 |
Intronic |
c.772+24C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308396 |
Intron 6 |
Intronic |
c.772+27G>C |
|
Pending classification |
|
Yu (2013) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52308950 |
Intron 6 |
Intronic |
c.773-59_773-58insT |
|
Pending classification |
|
Gedge (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309006 |
Intron 6 |
Splice Site |
c.773-3C>G |
|
VUS |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309007 |
Intron 6 |
Splice Site |
c.773-2A>G |
|
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) Fontalba (2008) |
 Clinical Features: E T P H Co-segregation: mRNA study: Functional study: Comments: |
52309007 |
Intron 6 |
Splice Site |
c.773-2A>C |
|
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309014 |
Exon 7 |
Missense |
c.778A>C |
p.Ile260Leu |
Pending classification |
|
Bossler (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309029 |
Exon 7 |
Missense |
c.793A>C |
p.Thr265Pro |
Pending classification |
|
Argyriou (2006) |
 Clinical Features: E P F Co-segregation: mRNA study: Functional study: Comments: |
52309042 |
Exon 7 |
Deletion |
c.806_818del |
p.Ser269Cysfs*28 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Frameshift (Edinburgh). |
52309043 |
Exon 7 |
Deletion |
c.807_810del |
p.Ser270Argfs*30 |
Pathogenic |
|
Richards-Yutz (2010) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309047 |
Exon 7 |
Deletion |
c.811_823del |
p.Thr271Serfs*26 |
Pathogenic |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2007) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.809_821delCACGCAGCTGTGG |
52309048 |
Exon 7 |
Missense |
c.812C>A |
p.Thr271Lys |
VUS |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309053 |
Exon 7 |
Silent |
c.817C>T |
p.Leu273Leu |
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309054 |
Exon 7 |
Missense |
c.818T>C |
p.Leu273Pro |
VUS |
|
Abdalla (2005) Westermann (2011) Reported by ARUP Laboratories |
 Clinical Features: P Co-segregation: mRNA study: Functional study: Comments: |
52309057 |
Exon 7 |
Duplication |
c.821_824dup |
p.Ile276Alafs*117 |
Pathogenic |
|
Olivieri (2006) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309058 |
Exon 7 |
Nonsense |
c.822G>A |
p.Trp274* |
Pathogenic |
|
Richards-Yutz (2010) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309063 |
Exon 7 |
Missense |
c.827T>C |
p.Ile276Thr |
Pending classification |
|
Abdalla (2005) Submitted by Edinburgh |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: On HHT database. DM PolyPhen2 probably damaging 0.993 (Edinburgh). |
52309065 |
Exon 7 |
Duplication |
c.829dup |
p.Thr277Asnfs*115 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309066 |
Exon 7 |
Missense |
c.830C>A |
p.Thr277Lys |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309067 |
Exon 7 |
Silent |
c.831G>A |
p.Thr277Thr |
Pending classification |
|
Nishida (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.831C>A |
52309069 |
Exon 7 |
Duplication |
c.833_853dup |
p.His278_Ser284dup |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: In frame duplication. Not in HHT database - AGD Agree (Edinburgh). |
52309071 |
Exon 7 |
Duplication |
c.835_837dup |
p.Tyr279dup |
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309074 |
Exon 7 |
Missense |
c.838C>G |
p.His280Asp |
Pending classification |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309075 |
Exon 7 |
Missense |
c.839A>G |
p.His280Arg |
Pending classification |
|
Richards-Yutz (2010) Nishida (2012) Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309078 |
Exon 7 |
Deletion |
c.842del |
p.Glu281Glyfs*20 |
Pathogenic |
|
Schulte (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309087 |
Exon 7 |
Missense |
c.851C>T |
p.Ser284Phe |
Pending classification |
|
Abdalla (2005) |
 Clinical Features: E T G H Co-segregation: mRNA study: Functional study: Comments: |
52309089 |
Exon 7 |
Duplication |
c.853dup |
p.Leu285Profs*107 |
Pathogenic |
|
Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309089 |
Exon 7 |
Missense |
c.853C>T |
p.Leu285Phe |
VUS |
|
Bayrak-Toydemir (2004) Lesca (2004) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309090 |
Exon 7 |
Missense |
c.854T>C |
p.Leu285Pro |
Pending classification |
|
Chida (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309094 |
Exon 7 |
Nonsense |
c.858C>G |
p.Tyr286* |
Pathogenic |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309094 |
Exon 7 |
Nonsense |
c.858C>A |
p.Tyr286* |
Pathogenic |
|
Olivieri (2002) Bayrak-Toydemir (2004) Letteoer (2005) Giordano (2006) Lenato (2006) Olivieri (2007) |
 Clinical Features: T P H Co-segregation: mRNA study: Functional study: Comments: |
52309099 |
Exon 7 |
Deletion |
c.863_909del |
p.Phe288Cysfs*88 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309100 |
Exon 7 |
Duplication |
c.864dup |
p.Leu289Serfs*103 |
Pathogenic |
|
Berg (1997) Bayrak-Toydemir (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309102 |
Exon 7 |
Missense |
c.866T>C |
p.Leu289Pro |
Pathogenic |
|
Bossler (2006) Reported by ARUP Laboratories |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: |
52309106 |
Exon 7 |
Deletion |
c.870del |
p.Arg291Aspfs*10 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309108 |
Exon 7 |
Deletion |
c.872_873del |
p.Arg291Thrfs*100 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Frameshift. Not previously reported (Edinburgh). |
52309110 |
Exon 7 |
Deletion |
c.874del |
p.Gln292Argfs*9 |
Pathogenic |
|
Torring (2014) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309110 |
Exon 7 |
Nonsense |
c.874C>T |
p.Gln292* |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309111 |
Exon 7 |
Missense |
c.875A>C |
p.Gln292Pro |
Pending classification |
|
Schulte (2005) Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309117 |
Exon 7 |
Missense |
c.881T>G |
p.Leu294Arg |
VUS |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309126 |
Exon 7 |
Missense |
c.890A>G |
p.His297Arg |
Suspected Benign |
|
Fernandez-L (2006) McDonald (2009) Reported by ARUP Laboratories |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52309141 |
Exon 7 |
Missense |
c.905T>G |
p.Leu302Arg |
Pending classification |
|
Schulte (2005) Lux (2013) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309149 |
Exon 7 |
Deletion |
c.913del |
p.Ser305Profs*49 |
Pathogenic |
|
Assis (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309149 |
Exon 7 |
Missense |
c.913T>C |
p.Ser305Pro |
Pathogenic |
|
Abdalla (2005) Reported by ARUP Laboratories |
 Clinical Features: E T P C Co-segregation: mRNA study: Functional study: Comments: |
52309150 |
Exon 7 |
Missense |
c.914C>T |
p.Ser305Phe |
Pathogenic |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309152 |
Exon 7 |
Missense |
c.916G>C |
p.Ala306Pro |
Pending classification |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309153 |
Exon 7 |
Missense |
c.917C>A |
p.Ala306Glu |
Pending classification |
|
Torring (2014) |
 Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: |
52309155 |
Exon 7 |
Missense |
c.919G>C |
p.Ala307Pro |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309157 |
Exon 7 |
Duplication |
c.921_927dup |
p.Leu310Metfs*84 |
Pathogenic |
|
Fontalba (2008) |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52309160 |
Exon 7 |
Nonsense |
c.924C>A |
p.Cys308* |
Pathogenic |
|
Berg (1997) Bayrak-Toydemir (2004) Lenato (2006) Olivieri (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309161 |
Exon 7 |
Missense |
c.925G>T |
p.Gly309Cys |
Pending classification |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309161 |
Exon 7 |
Missense |
c.925G>A |
p.Gly309Ser |
Pathogenic |
|
Letteoer (2005) Gedge (2007) McDonald (2011) Nishida (2012) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309167 |
Exon 7 |
Missense |
c.931G>A |
p.Ala311Thr |
VUS |
|
McDonald (2009) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309172 |
Exon 7 |
Missense |
c.936C>G |
p.His312Gln |
Pending classification |
|
Fujiwara (2008) Chida (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309176 |
Exon 7 |
Missense |
c.940C>T |
p.His314Tyr |
VUS |
|
Bayrak-Toydemir (2004) Lesca (2004) Schulte (2005) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309177 |
Exon 7 |
Deletion |
c.941_951del |
p.His314Leufs*74 |
Pathogenic |
|
Torring (2014) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309186 |
Exon 7 |
Missense |
c.950T>C |
p.Ile317Thr |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309186 |
Exon 7 |
Missense |
c.950T>A |
p.Ile317Asn |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309191 |
Exon 7 |
Missense |
c.955G>C |
p.Gly319Arg |
Pathogenic |
|
Machado (2015) Piao (2016) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309192 |
Exon 7 |
Missense |
c.956G>A |
p.Gly319Asp |
Pending classification |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309197 |
Exon 7 |
Nonsense |
c.961C>T |
p.Gln321* |
Pathogenic |
|
Letteoer (2005) Giordano (2006) Lenato (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309205 |
Exon 7 |
Duplication |
c.969dup |
p.Pro324Thrfs*68 |
Pathogenic |
|
Komiyama (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309208 |
Exon 7 |
Deletion |
c.972del |
p.Ala325Profs*29 |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309212 |
Exon 7 |
Missense |
c.976A>G |
p.Ile326Val |
Pending classification |
|
Assis (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309218 |
Exon 7 |
Missense |
c.982C>T |
p.His328Tyr |
VUS |
|
Gedge (2007) Komiyama (2014) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309219 |
Exon 7 |
Missense |
c.983A>C |
p.His328Pro |
Pending classification |
|
Fernandez-L (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309220 |
Exon 7 |
Missense |
c.984C>A |
p.His328Gln |
VUS |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309221 |
Exon 7 |
Missense |
c.985C>T |
p.Arg329Cys |
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309221 |
Exon 7 |
Missense |
c.985C>A |
p.Arg329Ser |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309222 |
Exon 7 |
Missense |
c.986G>A |
p.Arg329His |
Pathogenic |
|
Abdalla (2003) Bayrak-Toydemir (2004) Reported by ARUP Laboratories |
 Clinical Features: T P C Co-segregation: mRNA study: Functional study: Comments: |
52309224 |
Exon 7 |
Missense |
c.988G>T |
p.Asp330Tyr |
Pending classification |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2007) Fontalba (2008) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309224 |
Exon 7 |
Missense |
c.988G>C |
p.Asp330His |
Pending classification |
|
Torring (2014) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309224 |
Exon 7 |
Missense |
c.988G>A |
p.Asp330Asn |
Pending classification |
|
Letteoer (2005) Lenato (2006) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309227 |
Exon 7 |
Deletion |
c.991_1044del |
p.Phe331_Asp348del |
Pending classification |
|
Torring (2014) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309228 |
Exon 7 |
Missense |
c.992T>C |
p.Phe331Ser |
Pending classification |
|
Bossler (2006) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309229 |
Exon 7 |
Silent |
c.993C>T |
p.Phe331Phe |
Suspected Benign |
|
Lenato (2006) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309230 |
Exon 7 |
Insertion |
c.994_995insGACTTA |
p.Phe331_Lys332 insArgLeu |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309233 |
Exon 7 |
Missense |
c.997A>G |
p.Ser333Gly |
Pending classification |
|
Schulte (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309234 |
Exon 7 |
Missense |
c.998G>T |
p.Ser333Ile |
Pathogenic |
|
Berg (1997) Abdalla (2000) McDonald (2000) Abdalla (2003) Bayrak-Toydemir (2004) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F P H C G Co-segregation: mRNA study: Functional study: Comments: |
52309234 |
Exon 7 |
Missense |
c.998G>A |
p.Ser333Asn |
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309236 |
Exon 7 |
Deletion |
c.1000del |
p.Arg334Alafs*20 |
Pathogenic |
|
Canzonieri (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309236 |
Exon 7 |
Indel |
c.1000_1005delinsG |
p.Arg334Glyfs*56 |
Pathogenic |
|
Bayrak-Toydemir (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309239 |
Exon 7 |
Missense |
c.1003A>C |
p.Asn335His |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309240 |
Exon 7 |
Missense |
c.1004A>G |
p.Asn335Ser |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309242 |
Exon 7 |
Missense |
c.1006G>T |
p.Val336Leu |
Pending classification |
|
Olivieri (2002) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309243 |
Exon 7 |
Missense |
c.1007T>A |
p.Val336Glu |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: |
52309246 |
Exon 7 |
Duplication |
c.1010dup |
p.Val338Glyfs*54 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309246 |
Exon 7 |
Missense |
c.1010T>C |
p.Leu337Pro |
VUS |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309246 |
Exon 7 |
Deletion |
c.1010del |
p.Leu337Argfs*17 |
Pathogenic |
|
Lesca (2006) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309249 |
Exon 7 |
Missense |
c.1013T>A |
p.Val338Asp |
Pending classification |
|
Torring (2014) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309258 |
Exon 7 |
Missense |
c.1022A>T |
p.Asn341Ile |
Pending classification |
|
Torring (2014) |
 Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: |
52309259 |
Exon 7 |
Missense |
c.1023C>G |
p.Asn341Lys |
Pending classification |
|
Bayrak-Toydemir (2004) Bayrak-Toydemir (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309261 |
Exon 7 |
Missense |
c.1025T>C |
p.Leu342Pro |
VUS |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309263 |
Exon 7 |
Nonsense |
c.1027C>T |
p.Gln343* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309266 |
Exon 7 |
Missense |
c.1030T>C |
p.Cys344Arg |
Pathogenic |
|
Bayrak-Toydemir (2006) Bossler (2006) Gedge (2007) Fontalba (2008) McDonald (2009) Reported by ARUP Laboratories |
 Clinical Features: E T H F Co-segregation: mRNA study: Functional study: Comments: Affected mother, grandfather (McDonald 2009) |
52309267 |
Exon 7 |
Missense |
c.1031G>T |
p.Cys344Phe |
Pending classification |
|
Bayrak-Toydemir (2004) Olivieri (2007) |
 Clinical Features: P Co-segregation: mRNA study: Functional study: Comments: |
52309267 |
Exon 7 |
Missense |
c.1031G>A |
p.Cys344Tyr |
Pathogenic |
|
Abdalla (2000) Harrison (2003) Bayrak-Toydemir (2004) Schulte (2005) Wehner (2006) Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52309269 |
Exon 7 |
Missense |
c.1033T>C |
p.Cys345Arg |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309270 |
Exon 7 |
Missense |
c.1034G>A |
p.Cys345Tyr |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309273 |
Exon 7 |
Deletion |
c.1037_1039del |
p.Ile346_Ala347 delinsThr |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309275 |
Exon 7 |
Missense |
c.1039G>C |
p.Ala347Pro |
Pending classification |
|
Bayrak-Toydemir (2004) Lesca (2004) Ricard (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309276 |
Exon 7 |
Missense |
c.1040C>A |
p.Ala347Asp |
Pending classification |
|
Richards-Yutz (2010) Nishida (2012) |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: |
52309276 |
Exon 7 |
Deletion |
c.1040_1042del |
p.Ala347del |
Pending classification |
|
Sankelo (2008) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309278 |
Exon 7 |
Missense |
c.1042G>T |
p.Asp348Tyr |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309278 |
Exon 7 |
Deletion |
c.1042del |
p.Asp348Thrfs*6 |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309279 |
Exon 7 |
Duplication |
c.1043_1048+1dup |
p.Asp348Glufs*46 |
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: c.1048+6_1048+1dupACCTGGG |
52309282 |
Exon 7 |
Missense |
c.1046T>G |
p.Leu349Arg |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: |
52309282 |
Exon 7 |
Missense |
c.1046T>C |
p.Leu349Pro |
Pending classification |
|
Richards-Yutz (2010) Torring (2014) |
 Clinical Features: T P G Co-segregation: mRNA study: Functional study: Comments: |
52309284 |
Exon 7 |
Missense |
c.1048G>C |
p.Gly350Arg |
Pathogenic |
|
Letteoer (2005) Gedge (2007) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309284 |
Exon 7 |
Missense |
c.1048G>A |
p.Gly350Ser |
Pending classification |
|
Schulte (2005) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309285 |
Intron 7 |
Splice Site |
c.1048+1G>C |
|
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309285 |
Intron 7 |
Splice Site |
c.1048+1G>A |
|
Pathogenic |
|
Lesca (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309289 |
Intron 7 |
Splice Site |
c.1048+5G>T |
|
Pending classification |
|
Fontalba (2008) |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52309289 |
Intron 7 |
Splice Site |
c.1048+5G>A |
|
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309339 |
Intron 7 |
Intronic |
c.1048+55_1048+58del |
|
Benign |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309355 |
Intron 7 |
Intronic |
c.1048+71T>A |
|
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309367 |
Intron 7 |
Intronic |
c.1048+53G>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309756 |
Intron 7 |
Intronic |
c.1049-64C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309816 |
Intron 7 |
Splice Site |
c.1049-4_1051del |
|
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Destroys splice site (Edinburgh). |
52309816 |
Intron 7 |
Splice Site |
c.1049-4_1049-2delinsCC |
|
Pathogenic |
|
Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309819 |
Intron 7 |
Splice Site |
c.1049-1G>A |
|
Pathogenic |
|
Richards-Yutz (2010) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309820 |
Exon 8 |
Large Deletion |
EX8del |
|
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: c.1049-?_1246+? |
52309823 |
Exon 8 |
Missense |
c.1052T>C |
p.Leu351Pro |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309825 |
Exon 8 |
Missense |
c.1054G>C |
p.Ala352Pro |
Pending classification |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2007) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309826 |
Exon 8 |
Missense |
c.1055C>A |
p.Ala352Asp |
Pathogenic |
|
Prigoda (2006) McDonald (2011) Smoot (2009) Song (2016) Reported by ARUP Laboratories |
 Clinical Features: E F T P Co-segregation: mRNA study: Functional study: Comments: Reclassified December 2016. |
52309832 |
Exon 8 |
Deletion |
c.1061_1068del |
p.Met354Thrfs*35 |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309832 |
Exon 8 |
Missense |
c.1061T>A |
p.Met354Lys |
Pending classification |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309833 |
Exon 8 |
Duplication |
c.1062_1080dup |
p.Tyr361Alafs*37 |
Pathogenic |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2007) |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.1080_1099dupGCACTCACAGGGCAGCGAT |
52309840 |
Exon 8 |
Nonsense |
c.1069C>T |
p.Gln357* |
Pathogenic |
|
Abdalla (2005) |
 Clinical Features: E T P C Co-segregation: mRNA study: Functional study: Comments: |
52309844 |
Exon 8 |
Deletion |
c.1073del |
p.Gly358Alafs*57 |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309844 |
Exon 8 |
Duplication |
c.1073dup |
p.Ser359Glnfs*33 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Frameshift (Edinburgh). |
52309854 |
Exon 8 |
Nonsense |
c.1083C>A |
p.Tyr361* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309863 |
Exon 8 |
Silent |
c.1092C>T |
p.Ile364Ile |
Pending classification |
|
Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309873 |
Exon 8 |
Deletion |
c.1102_1105del |
p.Pro368Glufs*46 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309878 |
Exon 8 |
Deletion |
c.1107_1108del |
p.Arg369Serfs*22 |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309882 |
Exon 8 |
Missense |
c.1111G>A |
p.Gly371Ser |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: G F Co-segregation: mRNA study: Functional study: Comments: |
52309883 |
Exon 8 |
Missense |
c.1112G>T |
p.Gly371Val |
VUS |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309883 |
Exon 8 |
Duplication |
c.1112dup |
p.Thr372Hisfs*20 |
Pathogenic |
|
Abdalla (2003) Bayrak-Toydemir (2004) Lesca (2004) Lesca (2006) Ricard (2010) |
 Clinical Features: E T P G Co-segregation: mRNA study: Functional study: Comments: |
52309886 |
Exon 8 |
Missense |
c.1115C>T |
p.Thr372Ile |
Suspected Pathogenic |
3 |
Lenato (2006) Wehner (2006) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309889 |
Exon 8 |
Deletion |
c.1118del |
p.Lys373Serfs*42 |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309891 |
Exon 8 |
Missense |
c.1120C>T |
p.Arg374Trp |
Pathogenic |
|
Berg (1997) Kjeldsen (2001) Abdalla (2003) Harrison (2003) Abdalla (2004) Bayrak-Toydemir (2004) Sanz-Rodriguez (2004) Abdalla (2005) Fernandez-L (2005) Kuehl (2005) Letteoer (2005) Fernandez-L (2006) Lenato (2006) Lesca (2006) Wehner (2006) Gedge (2007) Olivieri (2007) Ricard (2010) McDonald (2011) Nishida (2012) Canzonieri (2014) Reported by ARUP Laboratories |
 Clinical Features: E T H C P G F Co-segregation: mRNA study: Functional study: Comments: |
52309891 |
Exon 8 |
Deletion |
c.1120_1137 |
p.Arg374_Glu379del |
Pending classification |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309891 |
Exon 8 |
Insertion |
c.1120_1121insCACGAGCAC |
p.Lys373_Arg374 insProArgAla |
Pending classification |
|
Kjeldsen (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309892 |
Exon 8 |
Missense |
c.1121G>A |
p.Arg374Gln |
Pathogenic |
|
Abdalla (2003) Harrison (2003) Bayrak-Toydemir (2004) Lesca (2004)Letteoer (2005) Gedge (2007) Olivieri (2007) Fontalba (2008) Ricard (2010) McDonald (2011) Chen (2013) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P H F G Co-segregation: mRNA study: Functional study: Comments: |
52309893 |
Exon 8 |
Duplication |
c.1122_1125dup |
p.Met376Valfs*17 |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309894 |
Exon 8 |
Missense |
c.1123T>C |
p.Tyr375His |
VUS |
|
Abdalla (2003) Bayrak-Toydemir (2004) Reported by ARUP Laboratories |
 Clinical Features: E T P H Co-segregation: mRNA study: Functional study: Comments: |
52309895 |
Exon 8 |
Missense |
c.1124A>G |
p.Tyr375Cys |
Pending classification |
|
Chen (2013) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309897 |
Exon 8 |
Missense |
c.1126A>G |
p.Met376Val |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) Gedge (2007) Olivieri (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309898 |
Exon 8 |
Missense |
c.1127T>G |
p.Met376Arg |
Pathogenic |
|
Johnson (1996) Berg (1997) Bayrak-Toydemir (2004) Wehner (2006) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52309898 |
Exon 8 |
Missense |
c.1127T>C |
p.Met376Thr |
Pending classification |
|
Fernandez-L (2006) |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52309898 |
Exon 8 |
Missense |
c.1127T>A |
p.Met376Lys |
Pending classification |
|
Olivieri (2006) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309900 |
Exon 8 |
Missense |
c.1129G>A |
p.Ala377Thr |
Pending classification |
|
Fernandez-L (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309901 |
Exon 8 |
Missense |
c.1130C>T |
p.Ala377Val |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309902 |
Exon 8 |
Silent |
c.1131A>G |
p.Ala377Ala |
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309903 |
Exon 8 |
Missense |
c.1132C>T |
p.Pro378Ser |
Suspected Pathogenic |
|
Richards-Yutz (2010) McDonald (2011) Komiyama (2014) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309904 |
Exon 8 |
Missense |
c.1133C>T |
p.Pro378Leu |
VUS |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2007)Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52309904 |
Exon 8 |
Missense |
c.1133C>A |
p.Pro378His |
Pending classification |
|
Abdalla (2005) |
 Clinical Features: E T G Co-segregation: mRNA study: Functional study: Comments: |
52309906 |
Exon 8 |
Missense |
c.1135G>A |
p.Glu379Lys |
Pathogenic |
|
Bayrak-Toydemir (2004) Brusgaard (2004) Lesca (2004) Kuehl (2005) Lenato (2006) Brakensiek (2008) Fontalba (2008) Nishida (2012) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52309910 |
Exon 8 |
Missense |
c.1139T>G |
p.Val380Gly |
Pending classification |
|
Letteoer (2005) Olivieri (2006) Olivieri (2007) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309913 |
Exon 8 |
Missense |
c.1142T>C |
p.Leu381Pro |
Pending classification |
|
Fujiwara (2008) Ricard (2010) Chida (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309915 |
Exon 8 |
Missense |
c.1144G>C |
p.Asp382His |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: p Co-segregation: mRNA study: Functional study: Comments: |
52309924 |
Exon 8 |
Duplication |
c.1153_1157dup |
p.Thr387Serfs*30 |
Pathogenic |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: c.1158_1162dupATCCG |
52309927 |
Exon 8 |
Missense |
c.1156C>T |
p.Arg386Cys |
Pending classification |
|
Ricard (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309928 |
Exon 8 |
Missense |
c.1157G>A |
p.Arg386His |
Pending classification |
|
Abdalla (2005) |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52309932 |
Exon 8 |
Silent |
c.1161G>A |
p.Thr387Thr |
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309942 |
Exon 8 |
Nonsense |
c.1171G>T |
p.Glu391* |
Pathogenic |
|
Abdalla (2003) Bayrak-Toydemir (2004) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309957 |
Exon 8 |
Missense |
c.1186A>G |
p.Thr396Ala |
Pending classification |
|
Pousada (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309958 |
Exon 8 |
Missense |
c.1187C>A |
p.Thr396Asn |
Suspected Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: |
52309960 |
Exon 8 |
Missense |
c.1189G>A |
p.Asp397Asn |
Pending classification |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309961 |
Exon 8 |
Missense |
c.1190A>G |
p.Asp397Gly |
Pending classification |
|
Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309961 |
Exon 8 |
Missense |
c.1190A>T |
p.Asp397Val |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309964 |
Exon 8 |
Missense |
c.1193T>A |
p.Ile398Asn |
Pending classification |
|
Kjeldsen (2001) Bayrak-Toydemir (2004) |
 Clinical Features: P G Co-segregation: mRNA study: Functional study: Comments: |
52309966 |
Exon 8 |
Missense |
c.1195T>C |
p.Trp399Arg |
Pending classification |
|
Chen (2013) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309966 |
Exon 8 |
Missense |
c.1195T>G |
p.Trp399Gly |
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309967 |
Exon 8 |
Missense |
c.1196G>C |
p.Trp399Ser |
Pending classification |
|
Harrison (2003) Bayrak-Toydemir (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309969 |
Exon 8 |
Missense |
c.1198G>A |
p.Ala400Thr |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309970 |
Exon 8 |
Missense |
c.1199C>A |
p.Ala400Asp |
Pathogenic |
|
Olivieri (2002) Bayrak-Toydemir (2004) Olivieri (2006) Olivieri (2007) Canzonieri (2014) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52309975 |
Exon 8 |
Missense |
c.1204G>A |
p.Gly402Ser |
Pathogenic |
|
Bayrak-Toydemir (2004) Bayrak-Toydemir (2006) Assis (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309976 |
Exon 8 |
Missense |
c.1205G>A |
p.Gly402Asp |
Pending classification |
|
Fontalba (2008) |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52309979 |
Exon 8 |
Missense |
c.1208T>C |
p.Leu403Pro |
Pending classification |
|
Argyriou (2006) Giordano (2006) Lenato (2006) |
 Clinical Features: E T H Co-segregation: mRNA study: Functional study: Comments: |
52309981 |
Exon 8 |
Missense |
c.1210G>T |
p.Val404Leu |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309985 |
Exon 8 |
Missense |
c.1214T>A |
p.Leu405Gln |
Suspected Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309985 |
Exon 8 |
Missense |
c.1214T>G |
p.Leu405Arg |
Pending classification |
1 |
Submitted by Dezan, M / Immunohematology Division, Fundação Pró-Sangue, Hemocentro de São Paulo |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52309986 |
Exon 8 |
Deletion |
c.1215del |
p.Trp406Glyfs*9 |
Pathogenic |
|
McDonald (2011) Submitted by Edinburgh Reported by ARUP Laboratories |
 Clinical Features: E G Co-segregation: mRNA study: Functional study: Comments: |
52309989 |
Exon 8 |
Missense |
c.1218G>T |
p.Try406Cys |
Pending classification |
|
Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309989 |
Exon 8 |
Missense |
c.1218G>C |
p.Trp406Cys |
Pending classification |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309990 |
Exon 8 |
Missense |
c.1219G>A |
p.Glu407Lys |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309991 |
Exon 8 |
Missense |
c.1220A>G |
p.Glu407Gly |
Pathogenic |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52309992 |
Exon 8 |
Missense |
c.1221G>T |
p.Glu407Asp |
Pathogenic |
|
Abdalla (2000) Abdalla (2003) Bayrak-Toydemir (2004) Kuehl (2005) Olivieri (2007) Brakensiek (2008) Canzonieri (2014) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52310002 |
Exon 8 |
Missense |
c.1231C>T |
p.Arg411Trp |
Pathogenic |
|
Trembath (2001) Abdalla (2003) Bayrak-Toydemir (2004) Lesca (2004) Zhang (2004) Abdalla (2005) Kuehl (2005) Letteoer (2005) Schulte (2005) Lenato (2006) Wehner (2006) Sankelo (2008) Ricard (2010) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T C P H G Co-segregation: mRNA study: Functional study: Comments: |
52310002 |
Exon 8 |
Silent |
c.1231C>A |
p.Arg411Arg |
Pending classification |
|
Abdalla (2003) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52310003 |
Exon 8 |
Missense |
c.1232G>A |
p.Arg411Gln |
Pathogenic |
|
Johnson (1996) Berg (1997) Lin (2001) Abdalla (2003) Harrison (2003) Bayrak-Toydemir (2004) Brusgaard (2004) Lesca (2004) Schulte (2005) Lenato (2006) Olivieri (2006) Gedge (2007) Olivieri (2007) Fontalba (2008) Ricard (2010) McDonald (2011) Mutize (2020) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P H F G Co-segregation: mRNA study: Functional study: Comments: Reported as c.1232C>A Abdalla (2003) |
52310003 |
Exon 8 |
Missense |
c.1232G>C |
p.Arg411Pro |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) Gedge (2007) Ricard (2010) Submitted by Edinburgh Reported by ARUP Laboratories |
 Clinical Features: P C H Co-segregation: mRNA study: Functional study: Comments: |
52310005 |
Exon 8 |
Indel |
c.1234_1235delinsCA |
p.Thr412His |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52310017 |
Exon 8 |
Splice Site |
c.1246G>A |
p.Gly416Ser |
Pathogenic |
|
Argyriou (2006) Lesca (2006) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: H P F E T Co-segregation: mRNA study: Functional study: Comments: |
52310018 |
Intron 8 |
Splice Site |
c.1246+1G>A |
|
Pathogenic |
|
Bossler (2006) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52310019 |
Intron 8 |
Splice Site |
c.1246+2T>C |
|
Pathogenic |
|
Richards-Yutz (2010) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52310026 |
Intron 8 |
Splice Site |
c.1246+9C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52310036 |
Intron 8 |
Intronic |
c.1246+19C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312683 |
Intron 8 |
Intronic |
c.1247-86_1247-84delinsTAT |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312754 |
Intron 8 |
Intronic |
c.1247-15A>G |
|
Benign |
|
Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312769 |
Exon 9-10 |
Large Deletion |
EX9-10del |
|
Pathogenic |
|
Prigoda (2006) |
 Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments: c.1247_1509del |
52312771 |
Exon 9 |
Missense |
c.1249A>T |
p.Ile417Phe |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: T Co-segregation: mRNA study: Functional study: Comments: |
52312772 |
Exon 9 |
Deletion |
c.1250_1269del |
p.Ile417Thrfs*4 |
Pathogenic |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312783 |
Exon 9 |
Missense |
c.1261T>G |
p.Tyr421Asp |
Pending classification |
|
Fontalba (2008) |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52312791 |
Exon 9 |
Deletion |
c.1269del |
p.Phe425Serfs*14 |
Pathogenic |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52312792 |
Exon 9 |
Deletion |
c.1270_1290del |
p.Pro424_Pro430del |
Pending classification |
|
Brakensiek (2008) |
 Clinical Features: H Co-segregation: mRNA study: Functional study: Comments: |
52312792 |
Exon 9 |
Missense |
c.1270C>A |
p.Pro424Thr |
Pending classification |
|
Berg (1997) Bayrak-Toydemir (2004) Fujiwara (2008) Chida (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312792 |
Exon 9 |
Missense |
c.1270C>T |
p.Pro424Ser |
Suspected Pathogenic |
|
Abdalla (2005) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52312793 |
Exon 9 |
Missense |
c.1271C>A |
p.Pro424His |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312793 |
Exon 9 |
Missense |
c.1271C>G |
p.Pro424Arg |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: F Co-segregation: mRNA study: Functional study: Comments: |
52312793 |
Exon 9 |
Missense |
c.1271C>T |
p.Pro424Leu |
Pathogenic |
|
Letteoer (2005) Jia (2012) Komiyama (2014) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312795 |
Exon 9 |
Missense |
c.1273T>C |
p.Phe425Leu |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312795 |
Exon 9 |
Missense |
c.1273T>G |
p.Phe425Val |
Pending classification |
|
Kuehl (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312796 |
Exon 9 |
Deletion |
c.1274_1276del |
p.Phe425del |
Pending classification |
|
Kuehl (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312797 |
Exon 9 |
Missense |
c.1275C>G |
p.Phe425Leu |
Pending classification |
|
Bayrak-Toydemir (2004) Lesca (2004) Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312799 |
Exon 9 |
Missense |
c.1277A>G |
p.Tyr426Cys |
Pending classification |
|
Bossler (2006) Nishida (2012) |
 Clinical Features: T A F Co-segregation: mRNA study: Functional study: Comments: Bossler (2006) reported mutation as c.1276A>G. This is incorrect. |
52312802 |
Exon 9 |
Missense |
c.1280A>T |
p.Asp427Val |
Pending classification |
|
Lenato (2006) Lesca (2006) Montani(2009) Girerd (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312819 |
Exon 9 |
Missense |
c.1297C>T |
p.Pro433Ser |
Pending classification |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312820 |
Exon 9 |
Missense |
c.1298C>A |
p.Pro433His |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312820 |
Exon 9 |
Missense |
c.1298C>G |
p.Pro433Arg |
Pending classification |
|
Bossler (2006) |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: |
52312821 |
Exon 9 |
Deletion |
c.1299del |
p.Ser434Alafs*5 |
Pathogenic |
|
Abdalla (2003) Bayrak-Toydemir (2004) Canzonieri (2014) |
 Clinical Features: E T C P H Co-segregation: mRNA study: Functional study: Comments: |
52312824 |
Exon 9 |
Indel |
c.1302_1303delinsA |
p.Ser434Argfs*5 |
Pathogenic |
|
Argyriou (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52312831 |
Exon 9 |
Deletion |
c.1309delG |
p.Asp437Thrfs*2 |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments: |
52312832 |
Exon 9 |
Missense |
c.1310A>G |
p.Asp437Gly |
VUS |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Detected in first-degree affected relative (McDonald 2011) |
52312835 |
Exon 9 |
Missense |
c.1313T>C |
p.Met438Thr |
Pathogenic |
|
Letteoer (2005) Submitted by Edinburgh Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312835 |
Exon 9 |
Missense |
c.1313T>G |
p.Met438Arg |
Pending classification |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T G F Co-segregation: mRNA study: Functional study: Comments: |
52312837 |
Exon 9 |
Nonsense |
c.1315A>T |
p.Lys439* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312840 |
Exon 9 |
Deletion |
c.1318_1320del |
p.Lys440del |
Pathogenic |
|
Bossler (2006) Reported by ARUP Laboratories |
 Clinical Features: E T A F Co-segregation: Variant was detected in three affected first degree relatives of proband mRNA study: Functional study: Comments: |
52312843 |
Exon 9 |
Missense |
c.1321G>A |
p.Val441Met |
Likely Pathogenic |
4 |
Abdalla (2005) Lenato (2006) Yuan (2015) Reported by ARUP Laboratories |
 Clinical Features: E T G H Co-segregation: mRNA study: Functional study: Comments: |
52312846 |
Exon 9 |
Deletion |
c.1324_1326del |
p.Val442del |
Pending classification |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312846 |
Exon 9 |
Missense |
c.1324G>A |
p.Val442Met |
Pending classification |
|
Girerd (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312847 |
Exon 9 |
Missense |
c.1325T>C |
p.Val442Ala |
VUS |
|
Brakensiek (2008) Reported by ARUP Laboratories |
 Clinical Features: H Co-segregation: mRNA study: Functional study: Comments: |
52312853 |
Exon 9 |
Duplication |
c.1331_1332dup |
p.Asp445Trpfs*21 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312857 |
Exon 9 |
Silent |
c.1335T>C |
p.Asp445Asp |
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312858 |
Exon 9 |
Nonsense |
c.1336C>T |
p.Gln446* |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Patient also had ENG p.Ser576Gly (McDonald 2011) |
52312867 |
Exon 9 |
Missense |
c.1345C>A |
p.Pro449Thr |
Pending classification |
|
Fontalba (2008) |
 Clinical Features: E T P H Co-segregation: mRNA study: Functional study: Comments: |
52312867 |
Exon 9 |
Missense |
c.1345C>T |
p.Pro449Ser |
VUS |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: T Co-segregation: mRNA study: Functional study: Comments: |
52312868 |
Exon 9 |
Missense |
c.1346C>T |
p.Pro449Leu |
Pending classification |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52312869 |
Exon 9 |
Duplication |
c.1347dup |
p.Thr450Hisfs*4 |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312870 |
Exon 9 |
Missense |
c.1348A>G |
p.Thr450Ala |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312876 |
Exon 9 |
Deletion |
c.1354_1355del |
p.Pro452* |
Pathogenic |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312877 |
Exon 9 |
Missense |
c.1355C>T |
p.Pro452Leu |
Pathogenic |
|
Abdalla (2005) McDonald (2009) McDonald (2011) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: PolyPhen2 Probably Damaging 0.963. In HHT database with 2 refs Abdalla 2005 and Bossler 2006. Described as pathogenic in McDonald et al 2009 (note that described in summary as ENG P452L not the correct ACVRL1 P452L) Classify as known pathogenic (Edinburgh). |
52312882 |
Exon 9 |
Missense |
c.1360C>T |
p.Arg454Trp |
Suspected Benign |
|
Ricard (2010) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Patient also has pathogenic ENG mutation (ARUP). |
52312883 |
Exon 9 |
Deletion |
c.1361_1375del |
p.Arg454_Asp458del |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312883 |
Exon 9 |
Missense |
c.1361G>A |
p.Arg454Gln |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312899 |
Exon 9 |
Silent |
c.1377G>A |
p.Pro459Pro |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312900 |
Intron 9 |
Splice Site |
c.1377+1G>A |
|
Pathogenic |
|
Kuehl (2005) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52312901 |
Intron 9 |
Splice Site |
c.1377+2T>G |
|
Pathogenic |
|
Lenato (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as 1376+2T>G Lenato (2006) |
52312944 |
Intron 9 |
Intronic |
c.1377+45T>C |
|
Benign |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312964 |
Intron 9 |
Intronic |
c.1377+65A>G |
|
Benign |
|
Simon (2006) Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52312987 |
Intron 9 |
Intronic |
c.1377+88G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314388 |
Intron 9 |
Intronic |
c.1378-155T>G |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314481 |
Intron 9 |
Intronic |
c.1378-62C>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314494 |
Intron 9 |
Intronic |
c.1378-49C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314513 |
Intron 9 |
Intronic |
c.1378-30T>C |
|
Benign |
|
Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314541 |
Intron 9 |
Splice Site |
c.1378-2A>G |
|
Pathogenic |
|
Wehner (2006) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52314542 |
Intron 9 |
Splice Site |
c.1378-1G>T |
|
Pathogenic |
|
Fontalba (2008) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52314543 |
Exon 10 |
Large Deletion |
EX10del |
|
Pathogenic |
|
Prigoda (2006) Richards-Yutz (2010) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T P G Co-segregation: mRNA study: Functional study: Comments: c.1378-?_1512+?, c.1378_1509del |
52314550 |
Exon 10 |
Nonsense |
c.1385C>G |
p.Ser462* |
Pathogenic |
|
Abdalla (2004) Olivieri (2007) |
 Clinical Features: E T P H G Co-segregation: mRNA study: Functional study: Comments: |
52314550 |
Exon 10 |
Nonsense |
c.1385C>A |
p.Ser462* |
Pathogenic |
1 |
Submitted by Dezan, M / Immunohematology Division, Fundação Pró-Sangue, Hemocentro de São Paulo |
 Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: |
52314553 |
Exon 10 |
Deletion |
c.1388del |
p.Gly463Alafs*2 |
Pathogenic |
|
Girerd (2010) Eyries (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314555 |
Exon 10 |
Deletion |
c.1390del |
p.Leu464* |
Pathogenic |
|
Eyries (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314561 |
Exon 10 |
Nonsense |
c.1396C>T |
p.Gln466* |
Pathogenic |
|
McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52314570 |
Exon 10 |
Missense |
c.1405C>T |
p.Arg469Trp |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52314573 |
Exon 10 |
Nonsense |
c.1408G>T |
p.Glu470* |
Pathogenic |
|
Letteoer (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314576 |
Exon 10 |
Missense |
c.1411T>C |
p.Cys471Arg |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314578 |
Exon 10 |
Nonsense |
c.1413C>A |
p.Cys471* |
Pathogenic |
|
Bossler (2006) Nishida (2012) Reported by ARUP Laboratories |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: |
52314579 |
Exon 10 |
Deletion |
c.1414_1419del |
p.Trp472_Tyr473del |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314592 |
Exon 10 |
Missense |
c.1427C>T |
p.Pro476Leu |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314593 |
Exon 10 |
Duplication |
c.1428dup |
p.Ser477Leufs*17 |
Pathogenic |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314598 |
Exon 10 |
Missense |
c.1433C>A |
p.Ala478Asp |
Pending classification |
|
Chida (2012) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314598 |
Exon 10 |
Missense |
c.1433C>T |
p.Ala478Val |
VUS |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314600 |
Exon 10 |
Nonsense |
c.1435C>T |
p.Arg479* |
Pathogenic |
|
Abdalla (2004) Bayrak-Toydemir (2004) Lesca (2004) Abdalla (2005) Letteoer (2005) Lenato (2006) Olivieri (2006) Yan (2006) Gedge (2007) Olivieri (2007) Fontalba (2008) McDonald (2011) Chen (2013) Canzonieri (2014) Komiyama (2014) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52314601 |
Exon 10 |
Deletion |
c.1436del |
p.Arg479Hisfs*23 |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: |
52314601 |
Exon 10 |
Missense |
c.1436G>A |
p.Arg479Gln |
Pathogenic |
|
Bayrak-Toydemir (2006) Lesca (2006) Gedge (2007) Fujiwara (2008) Ricard (2010) McDonald (2011) Chida (2012) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314601 |
Exon 10 |
Missense |
c.1436G>C |
p.Arg479Pro |
VUS |
|
Richards-Yutz (2010) Reported by ARUP Laboratories |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52314601 |
Exon 10 |
Missense |
c.1436G>T |
p.Arg479Leu |
Pending classification |
|
Bayrak-Toydemir (2004) Lesca (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314603 |
Exon 10 |
Missense |
c.1438C>T |
p.Leu480Phe |
VUS |
|
Olivieri (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314604 |
Exon 10 |
Deletion |
c.1439_1506del |
p.Leu480Profs*32 |
Pending classification |
|
Shoukier (2008) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Prigoda (2006) reported this mutation as Exon 10 deletion with p.V460_Q503del |
52314610 |
Exon 10 |
Missense |
c.1445C>A |
p.Ala482Glu |
VUS |
|
Olivieri (2007) McDonald (2011) Reported by ARUP Laboratories |
 Clinical Features: E T P H Co-segregation: mRNA study: Functional study: Comments: |
52314610 |
Exon 10 |
Missense |
c.1445C>T |
p.Ala482Val |
Benign |
|
D'Abronzo (1999) Bayrak-Toydemir (2004) Lesca (2004) Schulte (2005) McDonald (2009) Ricard (2010) Submitted by Edinburgh Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Found in sample that has c.1036_1044delATCGCCGAC (Edinburgh). |
52314610 |
Exon 10 |
Missense |
c.1450C>G |
p.Arg484Gly |
Pending classification |
|
Jones (2014) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314610 |
Exon 10 |
Missense |
c.1450C>T |
p.Arg484Trp |
Pathogenic |
|
Trembath (2001) Bayrak-Toydemir (2004) Lesca (2004) Letteoer (2005) Lenato (2006) Olivieri (2006) Olivieri (2007) Ricard (2010) Reported by ARUP Laboratories Submitted by Edinburgh |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52314615 |
Exon 10 |
Indel |
c.1450delinsTG |
p.Arg484Trpfs*10 |
Pathogenic |
|
Abdalla (2004) |
 Clinical Features: F E T Co-segregation: mRNA study: Functional study: Comments: |
52314616 |
Exon 10 |
Missense |
c.1451G>A |
p.Arg484Gln |
Pathogenic |
|
Olivieri (2007) Fujiwara (2008) Ricard (2010) Chida (2012) Chen (2013) Pfarr (2013) Sommer (2018) Reported by ARUP Laboratories |
 Clinical Features: HHT, pulmonary arterial hypertension (PAH) Co-segregation: mRNA study: Functional study: Comments: |
52314616 |
Exon 10 |
Missense |
c.1451G>T |
p.Arg484Leu |
Pending classification |
|
Brakensiek (2008) |
 Clinical Features: H Co-segregation: mRNA study: Functional study: Comments: |
52314617 |
Exon 10 |
Silent |
c.1452G>A |
p.Arg484Arg |
Pending classification |
|
Prigoda (2006) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314618 |
Exon 10 |
Missense |
c.1453A>T |
p.Ile485Phe |
Pending classification |
|
Ricard (2010) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314618 |
Exon 10 |
Duplication |
c.1453dup |
p.Ile485Asnfs*9 |
Pending classification |
|
Bossler (2006) |
 Clinical Features: E T A F Co-segregation: mRNA study: Functional study: Comments: |
52314619 |
Exon 10 |
Missense |
c.1454T>A |
p.Ile485Asn |
Pending classification |
|
Submitted by Edinburgh |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Not on HHT database but highly conserved. Likely pathogenic. SIFT = deleterious, Align GVGD = probably damaging, PolyPhen = C45. Likely pathogenic class 4 (Edinburgh). |
52314621 |
Exon 10 |
Missense |
c.1456A>G |
p.Lys486Glu |
Pending classification |
|
Richards-Yutz (2010) |
 Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: |
52314625 |
Exon 10 |
Deletion |
c.1460_1462del |
p.Lys487del |
VUS |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314625 |
Exon 10 |
Missense |
c.1460A>C |
p.Lys487Thr |
Pending classification |
|
Harrison (2003) Bayrak-Toydemir (2004) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314633 |
Exon 10 |
Nonsense |
c.1468C>T |
p.Gln490* |
Pathogenic |
|
Trembath (2001) Bayrak-Toydemir (2004) El-Harith (2006) Lenato (2006) |
 Clinical Features: F Co-segregation: mRNA study: Functional study: Comments: |
52314640 |
Exon 10 |
Missense |
c.1475T>A |
p.Ile492Asn |
Pending classification |
|
Kjeldsen (2005) |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314722 |
3'UTR |
Regulatory |
c.*39G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314722 |
3'UTR |
Regulatory |
c.*45del |
|
Suspected Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314735 |
3'UTR |
Regulatory |
c.*58G>A |
|
Benign |
|
Gedge (2007) Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314787 |
3'UTR |
Regulatory |
c.*110G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314796 |
3'UTR |
Regulatory |
c.*119C>T |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |
52314809 |
3'UTR |
Regulatory |
c.*132G>A |
|
Benign |
|
Reported by ARUP Laboratories |
 Clinical Features: Co-segregation: mRNA study: Functional study: Comments: |