ACVRL1 Database

  • Reference sequences were NC_00012.11 and NM_000020.2. cDNA number 1 is the "A" of the start codon.
  • Frameshift is noted by original amino acid and codon number followed by "fs" (ex. Leu159fs).
  • Click any Column Header to sort the display. See Comments for additional variant information.
  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , "2010" , etc...
  • Clinical features/diagnostic criteria are: epistaxis (E), telangiectasia oral/dermal (T), pulmonary AVM (P), cerebral AVM (C), hepatic involvement (H), GI telangiectasia (G) and family history (F).

Click for a detailed description of Classification


571 variants found

( *Independent Observations )

Genomic Position Location ▾ Mutation Type Nucleotide Change Protein Change Classification Ind * Obs References Comments
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
Exon 1 (5'UTR) Regulatory c.-52G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 1 (5'UTR) Regulatory c.-33C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 1 (5'UTR) Regulatory c.-23C>T Pending classification Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Exon 2-6 Large Deletion EX2-6del Pathogenic Shoukier (2008)
Clinical Features: E T H F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 2 Missense c.5C>T p.Thr2Ile VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 2 Missense c.24A>T p.Lys8Asn Pending classification Pousada (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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)
Exon 2 Deletion c.50_53del p.Leu17* Pathogenic Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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.
Intron 2 Splice Site c.61+1G>A Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 2 Splice Site c.61+10G>A Pending classification Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Intron 2 Intronic c.62-69G>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.65del p.Asp22Alafs*3 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.69del p.Val24* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.77C>T p.Pro26Leu VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Duplication c.81dup p.Arg28Serfs*10 Pathogenic Lee (2009)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Silent c.87C>T p.Gly29Gly Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Silent c.90G>A p.Pro30Pro Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.95T>G p.Val32Gly Pending classification Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.95T>A p.Val32Glu Pending classification Komiyama (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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)
Exon 3 Deletion c.100_115del p.Cys34Hisfs*15 Pathogenic Schulte (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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
Exon 3 Nonsense c.102C>A p.Cys34* Pathogenic Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.106T>C p.Cys36Arg VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.112A>T p.Ser38Cys Pending classification Richards-Yutz (2010)
Clinical Features: E F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Duplication c.115_118dup p.His40Profs*130 Pathogenic Lenato (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.121T>C p.Cys41Arg Pathogenic Lenato (2006)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.128_132del p.Gly43Aspfs*124 Pathogenic Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.129del p.Pro44Leufs*10 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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
Exon 3 Indel c.136_137delinsCT p.Cys46Leu Pending classification Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 3 Duplication c.139dup p.Arg47Profs*122 Pathogenic Bossler (2006)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.142G>A p.Gly48Arg Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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)
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:
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)
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)
Exon 3 Deletion c.147del p.Trp50Glyfs*4 Pathogenic Jia (2012)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.148T>G p.Trp50Gly Pending classification Argyriou (2006)
Clinical Features: E F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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).
Exon 3 Nonsense c.150G>A p.Trp50* Pathogenic Letteoer (2005)
Sankelo (2008)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.154A>G p.Thr52Ala Pending classification Bossler (2006)
Clinical Features: T A
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.154_169del p.Thr52Glyfs*65 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.155del p.Thr52Lysfs*2 Pathogenic Torring (2014)
Clinical Features: E T G F
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
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:
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:
Exon 3 Missense c.176A>T p.Glu59Val Pending classification Pousada (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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:
Exon 3 Nonsense c.193G>T p.Glu65* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 3 Missense c.199C>G p.Arg67Gly VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
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:
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
Exon 3 Deletion c.203del p.Gly68Alafs*54 Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Duplication c.205_209dup p.Asn71Alafs*53 Pathogenic Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.205T>C p.Cys69Arg Pending classification Argyriou (2006)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.206G>A p.Cys69Tyr Pending classification Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Silent c.207C>T p.Cys69Cys Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Nonsense c.207C>A p.Cys69* Pathogenic Richards-Yutz (2010)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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)
Exon 3 Deletion c.215del p.Leu72Cysfs*50 Pathogenic Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Insertion c.218_219insAA p.His73Glnfs*50 Pathogenic Lenato (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.229_240del p.Cys77_Arg80del Pending classification Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.230G>A p.Cys77Tyr Pending classification Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.235G>A p.Gly79Arg Pending classification Olivieri (2006)
Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.236G>A p.Gly79Glu VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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.
Exon 3 Duplication c.243dup p.Thr82Hisfs*87 Pathogenic Lesca (2004)
Bayrak-Toydemir (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.243del p.Thr82Profs*40 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.244_246del p.Thr82del Pending classification Fernandez-L (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.246del p.Glu83Serfs*39 Pathogenic Kuehl (2005)
Clinical Features: H
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Duplication c.252dup p.Val85Argfs*84 Pathogenic Kim (2011)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.253G>A p.Val85Ile VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Deletion c.259del p.His87Thrfs*35 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.263A>G p.Tyr88Cys Pathogenic Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Missense c.265T>C p.Cys89Arg Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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)
Exon 3 Missense c.269G>T p.Cys90Phe Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.270C>G p.Cys90Trp Pending classification Komiyama (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 3 Missense c.283T>C p.Cys95Arg Pending classification Lenato (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 3 Deletion c.289_295del p.His97Cysfs*23 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 3 Deletion c.298del p.Ser100Profs*22 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 3 Deletion c.301_307del p.Leu101Trpfs*19 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 3 Splice Site c.313+1G>A Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Intron 3 Intronic c.313+20C>A Pending classification Pousada (2015)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 3 Intronic c.314-65G>C Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 3 Intronic c.314-49G>C Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 3 Intronic c.314-49G>A Pending classification Gedge (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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+?
Exon 4 Deletion c.319del p.Gln107Asnfs*15 Pathogenic Argyriou (2006)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Deletion c.321del p.Gln107Hisfs*15 Pathogenic Olivieri (2006)
Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Missense c.321A>C p.Gln107His VUS Personal communication with Dr. Lena Samuelsson
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Nonsense c.329C>A p.Ser110* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Exon 4 Nonsense c.334C>T p.Gln112* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Nonsense c.352C>T p.Gln118* Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 4 Missense c.354G>C p.Gln118His Pending classification
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Deletion c.364del p.Ile122Serfs*43 Pathogenic Richards-Yutz (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Duplication c.374_375dup p.Val126Profs*40 Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Missense c.376G>A p.Val126Met VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Silent c.381G>A p.Leu127Leu Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Missense c.383C>A p.Ala128Asp Pending classification Abdalla (2005)
Clinical Features: E T G
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Deletion c.400del p.Ala134Profs*31 Pathogenic Klaus (1998)
Bayrak-Toydemir (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Missense c.401C>A p.Ala134Asp VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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:
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:
Exon 4 Duplication c.435dup p.Arg146Glufs*23 Pathogenic Bossler (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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).
Exon 4 Nonsense c.439C>T p.Gln147* Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Nonsense c.448C>T p.Gln150* Pathogenic Lenato (2006)
Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 4 Missense c.476A>T p.Glu159Val Pending classification Pousada (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 4 Duplication c.480_486dup p.Ile163Glnfs*8 Pathogenic Komiyama (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Deletion c.480_481del p.Leu162Hisfs*6 Pathogenic Schulte (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 4 Missense c.484C>T p.Leu162Phe Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Missense c.500C>G p.Ser167Cys Pending classification Gedge (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Nonsense c.505C>T p.Gln169* Pathogenic Komiyama (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Deletion c.510del p.Asp171Thrfs*87 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Duplication c.516dup p.Met173Hisfs*9 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 4 Deletion c.525_525+1del p.Asp176Thrfs*82 Pathogenic Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 4 Splice Site c.525+1G>C Pathogenic Komiyama (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Intron 4 Splice Site c.525+2T>G Pathogenic Richards-Yutz (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 4 Splice Site c.525+2T>C Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 4 Splice Site c.525+3A>T Pending classification Xie (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
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:
Intron 4 Splice Site c.526-7C>G Pending classification Argyriou (2006)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 4 Splice Site c.526-3C>G Pending classification Torring (2014)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 4 Splice Site c.526-1G>A Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.526G>T p.Asp176Tyr Pending classification Argyriou (2006)
Clinical Features: E T H
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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).
Exon 5 Missense c.536A>C p.Asp179Ala Pending classification Harrison (2003)
Ricard (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 5 Silent c.543C>T p.Asp181Asp Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Deletion c.550del p.Thr184Glnfs*74 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Deletion c.563del p.Ser188* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Clinical Features: C
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Deletion c.567del p.Leu190Serfs*68 Pathogenic Fontalba (2008)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Deletion c.573del p.Phe192Serfs*66 Pathogenic Schulte (2005)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.586A>G p.Arg196Gly Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.590C>A p.Thr197Lys Likely Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.590C>T p.Thr197Ile Pending classification Bossler (2006)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Silent c.591A>G p.Thr197Thr Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.593T>A p.Val198Glu Pending classification Chen (2013)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.595G>C p.Ala199Pro Pending classification 1 Greco (2018)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.598C>G p.Arg200Gly Pending classification Komiyama (2014)
Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 5 Missense c.602A>G p.Gln201Arg Pending classification Girerd (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 5 Missense c.614T>G p.Val205Gly VUS Komiyama (2014)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Missense c.617A>G p.Glu206Gly Pending classification Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Deletion c.617_625del p.Glu206_Val208del Pending classification Canzonieri (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Deletion c.620del p.Cys207Leufs*51 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Duplication c.623_624dup p.Gly209Trpfs*50 Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 5 Splice Site c.625G>C p.Gly209Arg Pending classification Richards-Yutz (2010)
Clinical Features: E
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Intron 5 Splice Site c.625+1delinsTTT Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Intron 5 Splice Site c.625+7_625+17del Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.625+41C>T Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments: Possible polymorphism (Edinburgh).
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).
Intron 5 Intronic c.625+56G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.625+108_625+109insATTCCATA Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.625+110_625+130del Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.625+146C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.625+164T>C Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.625+165T>C Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.626-176G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.626-78C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.626-60_626-59delinsT Benign Lenato (2006)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.626-58_626-60del Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.626-59del Pending classification Gedge (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.626-59_626-58insT Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Intronic c.626-57dup Pending classification Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Intron 5 Intronic c.626-30G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Splice Site c.626-9_629del Pathogenic Argyriou (2006)
Clinical Features: E T P F
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 5 Splice Site c.626-5_634del Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Exon 6 Missense c.632G>T p.Gly211Val Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 6 Nonsense c.639T>G p.Tyr213* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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).
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:
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:
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:
Exon 6 Nonsense c.650G>A p.Trp217* Pathogenic Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 6 Indel c.653_654delinsCC p.Arg218Pro Pending classification Chen (2013)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Missense c.656G>A p.Gly219Asp VUS Bossler (2006)
Lenato (2006)
Reported by ARUP Laboratories
Clinical Features: E A F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Missense c.661T>G p.Trp221Gly Suspected Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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))
Exon 6 Nonsense c.663G>A p.Trp221* Pathogenic Fontalba (2008)
Clinical Features: E T H
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Deletion c.664_668del p.His222* Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 6 Missense c.667G>C p.Gly223Arg Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Missense c.670G>A p.Glu224Lys VUS Lesca (2006)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Duplication c.673dup p.Ser225Lysfs*12 Pathogenic Richards-Yutz (2010)
Clinical Features: T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Missense c.673A>T p.Ser225Cys Pending classification Pousada (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
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:
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:
Exon 6 Deletion c.682del p.Val228Serfs*30 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 6 Missense c.686A>T p.Lys229Met Pending classification Giordano (2006)
Lenato (2006)
Clinical Features: F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Missense c.686A>G p.Lys229Arg Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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.
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)
Exon 6 Nonsense c.698C>A p.Ser233* Pathogenic Brakensiek (2008)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Deletion c.704del p.Asp235Valfs*23 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Nonsense c.709C>T p.Gln237* Pathogenic Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Missense c.709C>A p.Gln237Lys Pending classification Bossler (2006)
Clinical Features: A F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Nonsense c.716G>A p.Trp239* Pathogenic Prigoda (2006)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 6 Missense c.724G>A p.Glu242Lys Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 6 Missense c.758A>G p.His253Arg VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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.
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:
Intron 6 Splice Site c.772+3_772+4dup Pending classification Komiyama (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 6 Splice Site c.772+5G>A Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 6 Intronic c.772+21T>A Pending classification Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 6 Intronic c.772+24C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 6 Intronic c.772+27G>C Pending classification Yu (2013)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 6 Intronic c.773-59_773-58insT Pending classification Gedge (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 6 Splice Site c.773-3C>G VUS Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 7 Missense c.778A>C p.Ile260Leu Pending classification Bossler (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.793A>C p.Thr265Pro Pending classification Argyriou (2006)
Clinical Features: E P F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Deletion c.806_818del p.Ser269Cysfs*28 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments: Frameshift (Edinburgh).
Exon 7 Deletion c.807_810del p.Ser270Argfs*30 Pathogenic Richards-Yutz (2010)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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
Exon 7 Missense c.812C>A p.Thr271Lys VUS Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Silent c.817C>T p.Leu273Leu Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Duplication c.821_824dup p.Ile276Alafs*117 Pathogenic Olivieri (2006)
Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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).
Exon 7 Duplication c.829dup p.Thr277Asnfs*115 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.830C>A p.Thr277Lys Pending classification Richards-Yutz (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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
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).
Exon 7 Duplication c.835_837dup p.Tyr279dup Suspected Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.838C>G p.His280Asp Pending classification Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Deletion c.842del p.Glu281Glyfs*20 Pathogenic Schulte (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Duplication c.853dup p.Leu285Profs*107 Pathogenic Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.854T>C p.Leu285Pro Pending classification Chida (2012)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Nonsense c.858C>G p.Tyr286* Pathogenic Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Deletion c.863_909del p.Phe288Cysfs*88 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Duplication c.864dup p.Leu289Serfs*103 Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Deletion c.870del p.Arg291Aspfs*10 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Exon 7 Deletion c.874del p.Gln292Argfs*9 Pathogenic Torring (2014)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Nonsense c.874C>T p.Gln292* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.875A>C p.Gln292Pro Pending classification Schulte (2005)
Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 7 Missense c.905T>G p.Leu302Arg Pending classification Schulte (2005)
Lux (2013)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Deletion c.913del p.Ser305Profs*49 Pathogenic Assis (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.914C>T p.Ser305Phe Pathogenic Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.916G>C p.Ala306Pro Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.919G>C p.Ala307Pro VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Duplication c.921_927dup p.Leu310Metfs*84 Pathogenic Fontalba (2008)
Clinical Features: E T H
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.925G>T p.Gly309Cys Pending classification Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.931G>A p.Ala311Thr VUS McDonald (2009)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.936C>G p.His312Gln Pending classification Fujiwara (2008)
Chida (2012)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Deletion c.941_951del p.His314Leufs*74 Pathogenic Torring (2014)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.950T>C p.Ile317Thr VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.950T>A p.Ile317Asn Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.956G>A p.Gly319Asp Pending classification Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Duplication c.969dup p.Pro324Thrfs*68 Pathogenic Komiyama (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Deletion c.972del p.Ala325Profs*29 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.976A>G p.Ile326Val Pending classification Assis (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.983A>C p.His328Pro Pending classification Fernandez-L (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.985C>T p.Arg329Cys Suspected Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.985C>A p.Arg329Ser VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 7 Missense c.988G>C p.Asp330His Pending classification Torring (2014)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 7 Missense c.992T>C p.Phe331Ser Pending classification Bossler (2006)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Insertion c.994_995insGACTTA p.Phe331_Lys332
insArgLeu
Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.997A>G p.Ser333Gly Pending classification Schulte (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.998G>A p.Ser333Asn Suspected Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Deletion c.1000del p.Arg334Alafs*20 Pathogenic Canzonieri (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Indel c.1000_1005delinsG p.Arg334Glyfs*56 Pathogenic Bayrak-Toydemir (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.1004A>G p.Asn335Ser VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.1006G>T p.Val336Leu Pending classification Olivieri (2002)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Duplication c.1010dup p.Val338Glyfs*54 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.1010T>C p.Leu337Pro VUS Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 7 Missense c.1013T>A p.Val338Asp Pending classification Torring (2014)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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:
Exon 7 Nonsense c.1027C>T p.Gln343* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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)
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:
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:
Exon 7 Missense c.1033T>C p.Cys345Arg VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.1034G>A p.Cys345Tyr VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Deletion c.1037_1039del p.Ile346_Ala347
delinsThr
Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 7 Deletion c.1040_1042del p.Ala347del Pending classification Sankelo (2008)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Missense c.1042G>T p.Asp348Tyr VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 7 Deletion c.1042del p.Asp348Thrfs*6 Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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
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:
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:
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:
Exon 7 Missense c.1048G>A p.Gly350Ser Pending classification Schulte (2005)
Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Splice Site c.1048+1G>C Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Splice Site c.1048+1G>A Pathogenic Lesca (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Splice Site c.1048+5G>T Pending classification Fontalba (2008)
Clinical Features: E T P
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Splice Site c.1048+5G>A Suspected Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Intronic c.1048+55_1048+58del Benign Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Intronic c.1048+71T>A Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Intronic c.1048+53G>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Intronic c.1049-64C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
Intron 7 Splice Site c.1049-4_1049-2delinsCC Pathogenic Lenato (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 7 Splice Site c.1049-1G>A Pathogenic Richards-Yutz (2010)
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
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+?
Exon 8 Missense c.1052T>C p.Leu351Pro VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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.
Exon 8 Deletion c.1061_1068del p.Met354Thrfs*35 Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1061T>A p.Met354Lys Pending classification Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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
Exon 8 Nonsense c.1069C>T p.Gln357* Pathogenic Abdalla (2005)
Clinical Features: E T P C
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Deletion c.1073del p.Gly358Alafs*57 Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Duplication c.1073dup p.Ser359Glnfs*33 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments: Frameshift (Edinburgh).
Exon 8 Nonsense c.1083C>A p.Tyr361* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Silent c.1092C>T p.Ile364Ile Pending classification Lenato (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Deletion c.1102_1105del p.Pro368Glufs*46 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Deletion c.1107_1108del p.Arg369Serfs*22 Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 8 Missense c.1112G>T p.Gly371Val VUS Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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:
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:
Exon 8 Deletion c.1120_1137 p.Arg374_Glu379del Pending classification Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Insertion c.1120_1121insCACGAGCAC p.Lys373_Arg374
insProArgAla
Pending classification Kjeldsen (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 8 Duplication c.1122_1125dup p.Met376Valfs*17 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 8 Missense c.1124A>G p.Tyr375Cys Pending classification Chen (2013)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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:
Exon 8 Missense c.1127T>A p.Met376Lys Pending classification Olivieri (2006)
Olivieri (2007)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1129G>A p.Ala377Thr Pending classification Fernandez-L (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1130C>T p.Ala377Val VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Silent c.1131A>G p.Ala377Ala Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 8 Missense c.1133C>A p.Pro378His Pending classification Abdalla (2005)
Clinical Features: E T G
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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:
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:
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
Exon 8 Missense c.1156C>T p.Arg386Cys Pending classification Ricard (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1157G>A p.Arg386His Pending classification Abdalla (2005)
Clinical Features: E T P
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Silent c.1161G>A p.Thr387Thr Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 8 Missense c.1186A>G p.Thr396Ala Pending classification Pousada (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 8 Missense c.1189G>A p.Asp397Asn Pending classification Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1190A>G p.Asp397Gly Pending classification Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1190A>T p.Asp397Val Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 8 Missense c.1195T>C p.Trp399Arg Pending classification Chen (2013)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1195T>G p.Trp399Gly Suspected Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1196G>C p.Trp399Ser Pending classification Harrison (2003)
Bayrak-Toydemir (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1198G>A p.Ala400Thr Pending classification Richards-Yutz (2010)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 8 Missense c.1205G>A p.Gly402Asp Pending classification Fontalba (2008)
Clinical Features: E T P
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 8 Missense c.1210G>T p.Val404Leu VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1214T>A p.Leu405Gln Suspected Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 8 Missense c.1218G>T p.Try406Cys Pending classification Lenato (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1218G>C p.Trp406Cys Pending classification Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1219G>A p.Glu407Lys Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 8 Missense c.1220A>G p.Glu407Gly Pathogenic Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 8 Silent c.1231C>A p.Arg411Arg Pending classification Abdalla (2003)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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)
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)
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:
Exon 8 Indel c.1234_1235delinsCA p.Thr412His VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Intron 8 Splice Site c.1246+2T>C Pathogenic Richards-Yutz (2010)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 8 Splice Site c.1246+9C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 8 Intronic c.1246+19C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 8 Intronic c.1247-86_1247-84delinsTAT Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 8 Intronic c.1247-15A>G Benign Reported by ARUP Laboratories
Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9-10 Large Deletion EX9-10del Pathogenic Prigoda (2006)
Clinical Features: E F
Co-segregation:
mRNA study:
Functional study:
Comments: c.1247_1509del
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:
Exon 9 Deletion c.1250_1269del p.Ile417Thrfs*4 Pathogenic Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Missense c.1261T>G p.Tyr421Asp Pending classification Fontalba (2008)
Clinical Features: E T P
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Deletion c.1269del p.Phe425Serfs*14 Pathogenic Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Deletion c.1270_1290del p.Pro424_Pro430del Pending classification Brakensiek (2008)
Clinical Features: H
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 9 Missense c.1271C>A p.Pro424His Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Missense c.1271C>G p.Pro424Arg Pending classification Richards-Yutz (2010)
Clinical Features: F
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 9 Missense c.1273T>C p.Phe425Leu Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Missense c.1273T>G p.Phe425Val Pending classification Kuehl (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Deletion c.1274_1276del p.Phe425del Pending classification Kuehl (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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.
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:
Exon 9 Missense c.1297C>T p.Pro433Ser Pending classification Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Missense c.1298C>A p.Pro433His Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 9 Indel c.1302_1303delinsA p.Ser434Argfs*5 Pathogenic Argyriou (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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)
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:
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:
Exon 9 Nonsense c.1315A>T p.Lys439* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
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:
Exon 9 Missense c.1324G>A p.Val442Met Pending classification Girerd (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 9 Duplication c.1331_1332dup p.Asp445Trpfs*21 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Silent c.1335T>C p.Asp445Asp Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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)
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:
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:
Exon 9 Missense c.1346C>T p.Pro449Leu Pending classification Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Duplication c.1347dup p.Thr450Hisfs*4 Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Missense c.1348A>G p.Thr450Ala VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Deletion c.1354_1355del p.Pro452* Pathogenic Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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).
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).
Exon 9 Deletion c.1361_1375del p.Arg454_Asp458del VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Missense c.1361G>A p.Arg454Gln VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 9 Silent c.1377G>A p.Pro459Pro VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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)
Intron 9 Intronic c.1377+45T>C Benign Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Intron 9 Intronic c.1377+88G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 9 Intronic c.1378-155T>G Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 9 Intronic c.1378-62C>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 9 Intronic c.1378-49C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 9 Intronic c.1378-30T>C Benign Reported by ARUP Laboratories
Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 9 Splice Site c.1378-2A>G Pathogenic Wehner (2006)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Intron 9 Splice Site c.1378-1G>T Pathogenic Fontalba (2008)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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
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:
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:
Exon 10 Deletion c.1388del p.Gly463Alafs*2 Pathogenic Girerd (2010)
Eyries (2012)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Deletion c.1390del p.Leu464* Pathogenic Eyries (2012)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 10 Missense c.1405C>T p.Arg469Trp VUS Reported by ARUP Laboratories
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Nonsense c.1408G>T p.Glu470* Pathogenic Letteoer (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1411T>C p.Cys471Arg VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 10 Deletion c.1414_1419del p.Trp472_Tyr473del Pending classification Submitted by Edinburgh
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1427C>T p.Pro476Leu VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Duplication c.1428dup p.Ser477Leufs*17 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1433C>A p.Ala478Asp Pending classification Chida (2012)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1433C>T p.Ala478Val VUS Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 10 Deletion c.1436del p.Arg479Hisfs*23 Pending classification Richards-Yutz (2010)
Clinical Features: E T
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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:
Exon 10 Missense c.1436G>T p.Arg479Leu Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1438C>T p.Leu480Phe VUS Olivieri (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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
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:
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).
Exon 10 Missense c.1450C>G p.Arg484Gly Pending classification Jones (2014)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1450C>T p.Arg484Trp Pathogenic Trembath (2001)
Bayrak-Toydemir (2004)
Lesca (2004)
Letteoer (2005)
Lenato (2006)
Olivieri (2006)
Olivieri (2007)
Reported by ARUP Laboratories
Submitted by Edinburgh
Clinical Features: E T F
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Indel c.1450delinsTG p.Arg484Trpfs*10 Pathogenic Abdalla (2004)
Clinical Features: F E T
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1451G>A p.Arg484Gln Pathogenic Olivieri (2007)
Fujiwara (2008)
Ricard (2010)
Chida (2012)
Chen (2013)
Pfarr (2013)
Reported by ARUP Laboratories
Clinical Features: HHT, pulmonary arterial hypertension (PAH)
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1451G>T p.Arg484Leu Pending classification Brakensiek (2008)
Clinical Features: H
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Silent c.1452G>A p.Arg484Arg Pending classification Prigoda (2006)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1453A>T p.Ile485Phe Pending classification Ricard (2010)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
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).
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:
Exon 10 Deletion c.1460_1462del p.Lys487del VUS Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
Exon 10 Missense c.1460A>C p.Lys487Thr Pending classification Harrison (2003)
Bayrak-Toydemir (2004)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
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:
Exon 10 Missense c.1475T>A p.Ile492Asn Pending classification Kjeldsen (2005)
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
3'UTR Regulatory c.*39G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
3'UTR Regulatory c.*45del Suspected Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
3'UTR Regulatory c.*58G>A Benign Gedge (2007)
Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
3'UTR Regulatory c.*110G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
3'UTR Regulatory c.*119C>T Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments:
3'UTR Regulatory c.*132G>A Benign Reported by ARUP Laboratories
Clinical Features:
Co-segregation:
mRNA study:
Functional study:
Comments: