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


568 variants found

( *Independent Observations )

Location Mutation
Type
Nucleotide
Change
Protein
Change
Classification Ind * Obs References Comments
Whole gene Large Deletion Full Gene Deletion Pathogenic Shoukier (2008)
Exon 1 (5'UTR) Regulatory c.-52G>A Benign Reported by ARUP Laboratories
Exon 1 (5'UTR) Regulatory c.-33C>T Benign Reported by ARUP Laboratories
Exon 1 (5'UTR) Regulatory c.-23C>T Pending classification Olivieri (2007)
Intron 1 Intronic c.-5-38C>T Pending classification Abdalla (2003)
Lenato (2006)
Simon (2006)
Olivieri (2007)
Submitted by Edinburgh
Exon 2-6 Large Deletion EX2-6del Pathogenic Shoukier (2008)
Exon 2-7 Large Deletion EX2-7del Pathogenic Torring (2014)
Reported by ARUP Laboratories
Exon 2 Missense c.5C>T p.Thr2Ile VUS Reported by ARUP Laboratories
Exon 2 Missense c.24A>T p.Lys8Asn Pending classification Pousada (2014)
Exon 2 Deletion c.31_50del p.Leu11Glyfs*20 Pathogenic Gedge (2007)
Reported by ARUP Laboratories
Exon 2 Deletion c.37del p.Leu13Cysfs*2 Pathogenic Trembath (2001)
Bayrak-Toydemir (2004)
Lesca (2004)
Exon 2 Duplication c.50dup p.Leu17Phefs*21 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 2 Deletion c.50_53del p.Leu17* Pathogenic Olivieri (2007)
Exon 3-8 Large Deletion EX3-8del Pathogenic Prigoda (2006)
Richards-Yutz (2010)
Boeri (2013)
Intron 2 Splice Site c.61+1G>A Pathogenic Reported by ARUP Laboratories
Intron 2 Splice Site c.61+10G>A Pending classification Lesca (2004)
Intron 2 Intronic c.61+22A>G Benign Reported by ARUP Laboratories
Submitted by Edinburgh
Intron 2 Intronic c.62-69G>T Benign Reported by ARUP Laboratories
Exon 3 Deletion c.65del p.Asp22Alafs*3 Pathogenic Reported by ARUP Laboratories
Exon 3 Deletion c.69del p.Val24* Pathogenic Reported by ARUP Laboratories
Exon 3 Indel c.74_78delins176 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Missense c.77C>T p.Pro26Leu VUS Reported by ARUP Laboratories
Exon 3 Duplication c.81dup p.Arg28Serfs*10 Pathogenic Lee (2009)
Exon 3 Deletion c.86del p.Gly29Alafs*4 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Letteoer (2005)
Reported by ARUP Laboratories
Exon 3 Silent c.87C>T p.Gly29Gly Suspected Benign Reported by ARUP Laboratories
Exon 3 Missense c.88C>T p.Pro30Ser Pending classification Bossler (2006)
Exon 3 Silent c.90G>A p.Pro30Pro Suspected Benign Reported by ARUP Laboratories
Exon 3 Missense c.95T>G p.Val32Gly Pending classification Lesca (2006)
Exon 3 Missense c.95T>A p.Val32Glu Pending classification Komiyama (2014)
Exon 3 Duplication c.100dup p.Cys34Leufs*4 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Deletion c.100_115del p.Cys34Hisfs*15 Pathogenic Schulte (2005)
Exon 3 Missense c.101G>A p.Cys34Tyr Pending classification Bossler (2006)
Al-Saleh (2011)
Exon 3 Nonsense c.102C>A p.Cys34* Pathogenic Lesca (2006)
Exon 3 Missense c.106T>C p.Cys36Arg VUS Reported by ARUP Laboratories
Exon 3 Missense c.107G>A p.Cys36Tyr Pending classification Fernandez-L (2006)
Fontalba (2008)
Exon 3 Missense c.112A>T p.Ser38Cys Pending classification Richards-Yutz (2010)
Exon 3 Duplication c.115_118dup p.His40Profs*130 Pathogenic Lenato (2006)
Exon 3 Missense c.121T>C p.Cys41Arg Pathogenic Lenato (2006)
Reported by ARUP Laboratories
Exon 3 Deletion c.128_132del p.Gly43Aspfs*124 Pathogenic Wehner (2006)
Exon 3 Deletion c.129del p.Pro44Leufs*10 Pathogenic Reported by ARUP Laboratories
Exon 3 Missense c.136T>G p.Cys46Gly Pending classification Al-Saleh (2011)
Exon 3 Indel c.136_137delinsCT p.Cys46Leu Pending classification Wehner (2006)
Exon 3 Nonsense c.138C>A p.Cys46* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Insertion c.139_140insCG p.Arg47Profs*8 Pathogenic Torring (2014)
Exon 3 Duplication c.139dup p.Arg47Profs*122 Pathogenic Bossler (2006)
Exon 3 Missense c.140G>C p.Arg47Pro Suspected Pathogenic Fernandez-L (2006)
Wehner (2006)
Nishida (2012)
Reported by ARUP Laboratories
Exon 3 Missense c.142G>A p.Gly48Arg Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Exon 3 Missense c.143G>A p.Gly48Glu Pathogenic Brusgaard (2004)
Olivieri (2007)
McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Indel c.143_147delinsAGCCT p.Gly48_Ala49
delinsGluPro
Pending classification Abdalla (2000)
Bayrak-Toydemir (2004)
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
Exon 3 Deletion c.145del p.Ala49Profs*5 Pathogenic Olivieri (2002)
Olivieri (2007)
Reported by ARUP Laboratories
Exon 3 Deletion c.147del p.Trp50Glyfs*4 Pathogenic Jia (2012)
Exon 3 Missense c.148T>G p.Trp50Gly Pending classification Argyriou (2006)
Exon 3 Nonsense c.149G>A p.Trp50* Pathogenic Kuehl (2005)
Wehner (2006)
Exon 3 Missense c.150G>T p.Trp50Cys Pending classification Berg (1997)
Klaus (1998)
Abdalla (2000)
Abdalla (2003)
Bayrak-Toydemir (2004)
Submitted by Edinburgh
Exon 3 Nonsense c.150G>A p.Trp50* Pathogenic Letteoer (2005)
Sankelo (2008)
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
Exon 3 Missense c.154A>G p.Thr52Ala Pending classification Bossler (2006)
Exon 3 Deletion c.154_169del p.Thr52Glyfs*65 Pathogenic Submitted by Edinburgh
Exon 3 Deletion c.155del p.Thr52Lysfs*2 Pathogenic Torring (2014)
Exon 3 Missense c.164T>C p.Leu55Pro Pending classification Submitted by Edinburgh
Exon 3 Deletion c.164_169del p.Leu55_Val56del Pending classification Olivieri (2006)
Olivieri (2007)
Canzonieri (2014)
Exon 3 Nonsense c.172G>T p.Glu58* Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2006)
Olivieri (2007)
Exon 3 Missense c.176A>T p.Glu59Val Pending classification Pousada (2014)
Exon 3 Deletion c.183del p.Arg61Serfs*61 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Deletion c.190del p.Gln64Argfs*58 Pathogenic Letteoer (2005)
Schulte (2005)
Reported by ARUP Laboratories
Exon 3 Deletion c.191del p.Gln64Argfs*58 Pathogenic Bossler (2006)
Reported by ARUP Laboratories
Exon 3 Nonsense c.193G>T p.Glu65* Pathogenic Reported by ARUP Laboratories
Exon 3 Missense c.197A>C p.His66Pro Pending classification Argyriou (2006)
Lenato (2006)
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
Exon 3 Missense c.199C>G p.Arg67Gly VUS Reported by ARUP Laboratories
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
Exon 3 Missense c.202G>T p.Gly68Cys Pending classification Fernandez-L (2006)
Exon 3 Duplication c.203dup p.Cys69Leufs*100 Pathogenic Olivieri (2006)
Assis (2007)
Olivieri (2007)
Exon 3 Deletion c.203del p.Gly68Alafs*54 Pathogenic Letteoer (2005)
Exon 3 Duplication c.205_209dup p.Asn71Alafs*53 Pathogenic Olivieri (2007)
Exon 3 Missense c.205T>C p.Cys69Arg Pending classification Argyriou (2006)
Exon 3 Missense c.206G>T p.Cys69Phe Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Missense c.206G>A p.Cys69Tyr Pending classification Lesca (2006)
Exon 3 Silent c.207C>T p.Cys69Cys Benign Reported by ARUP Laboratories
Exon 3 Nonsense c.207C>A p.Cys69* Pathogenic Richards-Yutz (2010)
Exon 3 Missense c.208G>A p.Gly70Arg VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Deletion c.214_219del p.Leu72_His73del VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Deletion c.215del p.Leu72Cysfs*50 Pathogenic Wehner (2006)
Exon 3 Insertion c.218_219insAA p.His73Glnfs*50 Pathogenic Lenato (2006)
Exon 3 Deletion c.229_240del p.Cys77_Arg80del Pending classification Wehner (2006)
Exon 3 Missense c.230G>A p.Cys77Tyr Pending classification Olivieri (2007)
Exon 3 Missense c.231C>G p.Cys77Trp Pending classification Klaus (1998)
Bayrak-Toydemir (2004)
Ricard (2010)
Exon 3 Missense c.235G>A p.Gly79Arg Pending classification Olivieri (2006)
Olivieri (2007)
Exon 3 Missense c.236G>A p.Gly79Glu VUS Reported by ARUP Laboratories
Exon 3 Duplication c.237dup p.Arg80Alafs*89 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Exon 3 Duplication c.243dup p.Thr82Hisfs*87 Pathogenic Lesca (2004)
Bayrak-Toydemir (2004)
Exon 3 Deletion c.243del p.Thr82Profs*40 Pathogenic Submitted by Edinburgh
Exon 3 Deletion c.244_246del p.Thr82del Pending classification Fernandez-L (2006)
Exon 3 Deletion c.246del p.Glu83Serfs*39 Pathogenic Kuehl (2005)
Exon 3 Duplication c.252dup p.Val85Argfs*84 Pathogenic Kim (2011)
Exon 3 Missense c.253G>A p.Val85Ile VUS Reported by ARUP Laboratories
Exon 3 Missense c.259C>G p.His87Asp VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Deletion c.259del p.His87Thrfs*35 Pathogenic Submitted by Edinburgh
Exon 3 Missense c.263A>G p.Tyr88Cys Pathogenic Gedge (2007)
Reported by ARUP Laboratories
Exon 3 Missense c.265T>C p.Cys89Arg Pathogenic Reported by ARUP Laboratories
Exon 3 Missense c.266G>A p.Cys89Tyr Pending classification Olivieri (2007)
Exon 3 Missense c.269G>T p.Cys90Phe Pending classification Submitted by Edinburgh
Exon 3 Missense c.269G>A p.Cys90Tyr Pathogenic Lesca (2006)
Gedge (2007)
Reported by ARUP Laboratories
Exon 3 Missense c.270C>G p.Cys90Trp Pending classification Komiyama (2014)
Exon 3 Nonsense c.270C>A p.Cys90* Pathogenic McDonald (2009)
McDonald (2011)
Reported by ARUP Laboratories
Exon 3 Missense c.283T>C p.Cys95Arg Pending classification Lenato (2006)
Exon 3 Missense c.286A>G p.Asn96Asp Pending classification Klaus (1998)
Bayrak-Toydemir (2004)
Ricard (2010)
Exon 3 Missense c.287A>G p.Asn96Ser Pending classification Richards-Yutz (2010)
Jia (2012)
Exon 3 Deletion c.289_295del p.His97Cysfs*23 Pathogenic Reported by ARUP Laboratories
Exon 3 Deletion c.289_294del p.His97_Asn98del Pending classification Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2006)
Olivieri (2007)
Canzonieri (2014)
Exon 3 Missense c.293A>G p.Asn98Ser VUS Prigoda (2006)
Brakensiek (2008)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 3 Deletion c.298del p.Ser100Profs*22 Pathogenic Submitted by Edinburgh
Exon 3 Deletion c.301_307del p.Leu101Trpfs*19 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Intron 3 Splice Site c.313+1G>A Pathogenic Reported by ARUP Laboratories
Intron 3 Intronic c.313+11C>T Benign Lenato (2006)
Olivieri (2007)
Smoot (2009)
Reported by ARUP Laboratories
Submitted by Edinburgh
Intron 3 Intronic c.313+20C>A Pending classification Pousada (2015)
Intron 3 Intronic c.314-65G>C Benign Reported by ARUP Laboratories
Intron 3 Intronic c.314-49G>C Benign Reported by ARUP Laboratories
Intron 3 Intronic c.314-49G>A Pending classification Gedge (2007)
Intron 3 Intronic c.314-35A>G Benign Prigoda (2006)
Simon (2006)
Smoot (2009)
Pawlikowska (2005)
Reported by ARUP Laboratories
Intron 3 Splice Site c.314-3C>G Pending classification Prigoda (2006)
Olivieri (2007)
Exon 4 Large Deletion EX4del Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 4 Deletion c.319del p.Gln107Asnfs*15 Pathogenic Argyriou (2006)
Exon 4 Deletion c.321del p.Gln107Hisfs*15 Pathogenic Olivieri (2006)
Olivieri (2007)
Exon 4 Missense c.321A>C p.Gln107His VUS Personal communication with Dr. Lena Samuelsson
Exon 4 Nonsense c.329C>A p.Ser110* Pathogenic Reported by ARUP Laboratories
Exon 4 Silent c.330G>A p.Ser110Ser Benign Simon (2006)
Gedge (2007)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 4 Nonsense c.334C>T p.Gln112* Pathogenic Reported by ARUP Laboratories
Exon 4 Nonsense c.352C>T p.Gln118* Pathogenic Letteoer (2005)
Exon 4 Duplication c.353_360dup p.Leu121Serfs*4 Pathogenic Fontalba (2008)
Reported by ARUP Laboratories
Exon 4 Missense c.354G>C p.Gln118His Pending classification
Exon 4 Deletion c.364del p.Ile122Serfs*43 Pathogenic Richards-Yutz (2010)
Exon 4 Duplication c.374_375dup p.Val126Profs*40 Pathogenic Letteoer (2005)
Exon 4 Missense c.376G>A p.Val126Met VUS Reported by ARUP Laboratories
Exon 4 Silent c.381G>A p.Leu127Leu Benign Reported by ARUP Laboratories
Exon 4 Missense c.383C>A p.Ala128Asp Pending classification Abdalla (2005)
Exon 4 Deletion c.400del p.Ala134Profs*31 Pathogenic Klaus (1998)
Bayrak-Toydemir (2004)
Exon 4 Missense c.401C>A p.Ala134Asp VUS Reported by ARUP Laboratories
Exon 4 Deletion c.406_409del p.Gly136Serfs*28 Pathogenic Klaus (1998)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
Exon 4 Missense c.413T>C p.Leu138Pro Pending classification Richards-Yutz (2010)
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
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
Exon 4 Duplication c.435dup p.Arg146Glufs*23 Pathogenic Bossler (2006)
Exon 4 Deletion c.435del p.Arg146Glyfs*19 Pathogenic Fernandez-L (2005)
Fernandez-L (2006)
Olivieri (2007)
Exon 4 Indel c.438_439delinsTT p.Arg146_Gln503
delinsSer
Pending classification Submitted by Edinburgh
Exon 4 Nonsense c.439C>T p.Gln147* Pathogenic Letteoer (2005)
Exon 4 Nonsense c.448C>T p.Gln150* Pathogenic Lenato (2006)
Olivieri (2007)
Exon 4 Silent c.474A>T p.Gly158Gly Pending classification Bossler (2006)
Exon 4 Nonsense c.475G>T p.Glu159* Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 4 Missense c.476A>T p.Glu159Val Pending classification Pousada (2014)
Exon 4 Deletion c.476_477del p.Glu159Valfs*9 Pathogenic Olivieri (2007)
Reported by ARUP Laboratories
Exon 4 Duplication c.480_486dup p.Ile163Glnfs*8 Pathogenic Komiyama (2014)
Exon 4 Deletion c.480_481del p.Leu162Hisfs*6 Pathogenic Schulte (2005)
Exon 4 Missense c.481A>G p.Ser161Gly VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 4 Missense c.484C>T p.Leu162Phe Suspected Benign Reported by ARUP Laboratories
Exon 4 Missense c.500C>G p.Ser167Cys Pending classification Gedge (2007)
Exon 4 Nonsense c.505C>T p.Gln169* Pathogenic Komiyama (2014)
Exon 4 Deletion c.510del p.Asp171Thrfs*87 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Exon 4 Duplication c.516dup p.Met173Hisfs*9 Pathogenic Submitted by Edinburgh
Exon 4 Deletion c.525_525+1del p.Asp176Thrfs*82 Pathogenic Lesca (2006)
Intron 4 Splice Site c.525+1G>C Pathogenic Komiyama (2014)
Intron 4 Splice Site c.525+1G>A Pathogenic Gedge (2007)
Olivieri (2007)
Fontalba (2008)
Reported by ARUP Laboratories
Intron 4 Splice Site c.525+1del Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Intron 4 Splice Site c.525+2T>G Pathogenic Richards-Yutz (2010)
Intron 4 Splice Site c.525+2T>C VUS Reported by ARUP Laboratories
Intron 4 Splice Site c.525+3A>T Pending classification Xie (2007)
Intron 4 Splice Site c.525+3A>G Pathogenic Gedge (2007)
Bayrak-Toydemir (2008)
Reported by ARUP Laboratories
Submitted by Edinburgh
Intron 4 Intronic c.526-22A>G Benign Olivieri (2007)
Reported by ARUP Laboratories
Submitted by Edinburgh
Intron 4 Splice Site c.526-7C>G Pending classification Argyriou (2006)
Intron 4 Splice Site c.526-3C>G Pending classification Torring (2014)
Intron 4 Splice Site c.526-1G>A Pathogenic Reported by ARUP Laboratories
Exon 5 Missense c.526G>T p.Asp176Tyr Pending classification Argyriou (2006)
Exon 5 Deletion c.526del p.Asp176Thrfs*82 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 5 Missense c.536A>T p.Asp179Val Pending classification Submitted by Edinburgh
Exon 5 Missense c.536A>C p.Asp179Ala Pending classification Harrison (2003)
Ricard (2010)
Exon 5 Insertion c.540_541insA p.Asp181Argfs*44 Pathogenic Wehner (2006)
McDonald (2011)
Reported by ARUP Laboratories
Exon 5 Silent c.543C>T p.Asp181Asp Suspected Benign Reported by ARUP Laboratories
Exon 5 Deletion c.550del p.Thr184Glnfs*74 Pathogenic Submitted by Edinburgh
Exon 5 Deletion c.563del p.Ser188* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 5 Deletion c.567del p.Leu190Serfs*68 Pathogenic Fontalba (2008)
Exon 5 Deletion c.573del p.Phe192Serfs*66 Pathogenic Schulte (2005)
Reported by ARUP Laboratories
Exon 5 Missense c.586A>G p.Arg196Gly Pending classification Submitted by Edinburgh
Exon 5 Missense c.590C>A p.Thr197Lys Likely Pathogenic Reported by ARUP Laboratories
Exon 5 Missense c.590C>T p.Thr197Ile Pending classification Bossler (2006)
Exon 5 Silent c.591A>G p.Thr197Thr Suspected Benign Reported by ARUP Laboratories
Exon 5 Missense c.593T>A p.Val198Glu Pending classification Chen (2013)
Exon 5 Missense c.598C>G p.Arg200Gly Pending classification Komiyama (2014)
Submitted by Edinburgh
Exon 5 Nonsense c.601C>T p.Gln201* Pathogenic Richards-Yutz (2010)
McDonald (2011)
Reported by ARUP Laboratories
Exon 5 Missense c.601C>A p.Gln201Lys Pending classification Torring (2014)
Exon 5 Missense c.602A>G p.Gln201Arg Pending classification Girerd (2010)
Exon 5 Missense c.602A>C p.Gln201Pro VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 5 Missense c.611T>G p.Leu204Trp Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 5 Missense c.614T>G p.Val205Gly VUS Komiyama (2014)
Reported by ARUP Laboratories
Exon 5 Missense c.617A>G p.Glu206Gly Pending classification Olivieri (2007)
Exon 5 Deletion c.617_625del p.Glu206_Val208del Pending classification Canzonieri (2014)
Exon 5 Deletion c.620del p.Cys207Leufs*51 Pathogenic Reported by ARUP Laboratories
Exon 5 Duplication c.623_624dup p.Gly209Trpfs*50 Pathogenic Letteoer (2005)
Exon 5 Splice Site c.625G>C p.Gly209Arg Pending classification Richards-Yutz (2010)
Intron 5 Splice Site c.625+1G>C Pathogenic Bereczky (2015)
Intron 5 Splice Site c.625+1delinsTTT Pathogenic Submitted by Edinburgh
Intron 5 Splice Site c.625+4A>G Pending classification Submitted by Edinburgh
Intron 5 Splice Site c.625+7_625+17del Pending classification Submitted by Edinburgh
Intron 5 Intronic c.625+41C>T Pending classification Submitted by Edinburgh
Intron 5 Intronic c.625+41C>G Pending classification Submitted by Edinburgh
Intron 5 Intronic c.625+56G>A Benign Reported by ARUP Laboratories
Intron 5 Intronic c.625+108_625+109insATTCCATA Benign Reported by ARUP Laboratories
Intron 5 Intronic c.625+110_625+130del Benign Reported by ARUP Laboratories
Intron 5 Intronic c.625+146C>T Benign Reported by ARUP Laboratories
Intron 5 Intronic c.625+164T>C Benign Reported by ARUP Laboratories
Intron 5 Intronic c.625+165T>C Benign Reported by ARUP Laboratories
Intron 5 Intronic c.626-176G>A Benign Reported by ARUP Laboratories
Intron 5 Intronic c.626-78C>T Benign Reported by ARUP Laboratories
Intron 5 Intronic c.626-60_626-59delinsT Benign Lenato (2006)
Reported by ARUP Laboratories
Intron 5 Intronic c.626-58_626-60del Benign Reported by ARUP Laboratories
Intron 5 Intronic c.626-59del Pending classification Gedge (2007)
Intron 5 Intronic c.626-59_626-58insT Benign Reported by ARUP Laboratories
Intron 5 Intronic c.626-57dup Pending classification Olivieri (2007)
Intron 5 Intronic c.626-53C>T Benign Prigoda (2006)
Olivieri (2007)
Reported by ARUP Laboratories
Intron 5 Intronic c.626-30G>A Benign Reported by ARUP Laboratories
Intron 5 Splice Site c.626-9_629del Pathogenic Argyriou (2006)
Intron 5 Splice Site c.626-5_634del Pathogenic Letteoer (2005)
Intron 5 Splice Site c.626-3C>G Pathogenic Giordano (2006)
Lenato (2006)
McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 6 Missense c.632G>T p.Gly211Val Pending classification Submitted by Edinburgh
Exon 6 Missense c.632G>A p.Gly211Asp Pathogenic Harrison (2003)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 6 Nonsense c.639T>G p.Tyr213* Pathogenic Reported by ARUP Laboratories
Exon 6 Deletion c.641del p.Gly214Alafs*44 Pathogenic Richards-Yutz (2010)
Reported by ARUP Laboratories
Exon 6 Nonsense c.643G>T p.Glu215* Pathogenic Richards-Yutz (2010)
Submitted by Edinburgh
Exon 6 Missense c.643G>A p.Glu215Lys Suspected Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Reported by ARUP Laboratories
Exon 6 Missense c.647T>G p.Val216Gly VUS McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 6 Missense c.649T>G p.Trp217Gly Pending classification Richards-Yutz (2010)
Exon 6 Nonsense c.650G>A p.Trp217* Pathogenic Olivieri (2007)
Exon 6 Nonsense c.651G>A p.Trp217* Pathogenic Bossler (2006)
Reported by ARUP Laboratories
Exon 6 Indel c.653_654delinsCC p.Arg218Pro Pending classification Chen (2013)
Exon 6 Missense c.656G>A p.Gly219Asp VUS Bossler (2006)
Lenato (2006)
Reported by ARUP Laboratories
Exon 6 Missense c.661T>G p.Trp221Gly Suspected Pathogenic Reported by ARUP Laboratories
Exon 6 Nonsense c.662G>A p.Trp221* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 6 Nonsense c.663G>A p.Trp221* Pathogenic Fontalba (2008)
Exon 6 Deletion c.664_668del p.His222* Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Exon 6 Silent c.666C>T p.His222His Pending classification Prigoda (2006)
Exon 6 Missense c.667G>C p.Gly223Arg Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Exon 6 Missense c.670G>A p.Glu224Lys VUS Lesca (2006)
Reported by ARUP Laboratories
Exon 6 Duplication c.673dup p.Ser225Lysfs*12 Pathogenic Richards-Yutz (2010)
Exon 6 Missense c.673A>T p.Ser225Cys Pending classification Pousada (2014)
Exon 6 Deletion c.673_674del p.Ser225Cysfs*11 Pathogenic Fontalba (2008)
Submitted by Edinburgh
Exon 6 Missense c.676G>C p.Val226Leu Pending classification Torring (2014)
Exon 6 Missense c.677T>A p.Val226Glu Pending classification Richards-Yutz (2010)
Exon 6 Deletion c.682del p.Val228Serfs*30 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Exon 6 Missense c.683T>A p.Val228Asp VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 6 Missense c.686A>T p.Lys229Met Pending classification Giordano (2006)
Lenato (2006)
Exon 6 Missense c.686A>G p.Lys229Arg Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
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
Exon 6 Missense c.698C>T p.Ser233Leu Pathogenic Argyriou (2006)
McDonald (2009)McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 6 Nonsense c.698C>A p.Ser233* Pathogenic Brakensiek (2008)
Exon 6 Deletion c.704del p.Asp235Valfs*23 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Exon 6 Nonsense c.709C>T p.Gln237* Pathogenic Lesca (2006)
Exon 6 Missense c.709C>A p.Gln237Lys Pending classification Bossler (2006)
Exon 6 Nonsense c.716G>A p.Trp239* Pathogenic Prigoda (2006)
Exon 6 Missense c.724G>A p.Glu242Lys Pending classification Submitted by Edinburgh
Exon 6 Deletion c.743_744del p.Thr248Serfs*143 Pathogenic Wehner (2006)
Richards-Yutz (2010)
Exon 6 Silent c.747G>A p.Val249Val Benign Lenato (2006)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 6 Missense c.758A>G p.His253Arg VUS Reported by ARUP Laboratories
Exon 6 Deletion c.760_762del p.Asp254del Pathogenic Trembath (2001)
McDonald (2011)
Reported by ARUP Laboratories
Exon 6 Deletion c.759_761del p.Asp254del Pathogenic Bayrak-Toydemir (2004)
Gedge (2007)
Reported by ARUP Laboratories
Exon 6 Splice Site c.772G>A p.Gly258Ser Pending classification Richards-Yutz (2010)
Intron 6 Splice Site c.772+3_772+4dup Pending classification Komiyama (2014)
Intron 6 Splice Site c.772+5G>A Pathogenic Reported by ARUP Laboratories
Intron 6 Intronic c.772+21T>A Pending classification Lesca (2006)
Intron 6 Intronic c.772+24C>T Benign Reported by ARUP Laboratories
Intron 6 Intronic c.772+27G>C Pending classification Yu (2013)
Intron 6 Intronic c.773-59_773-58insT Pending classification Gedge (2007)
Intron 6 Splice Site c.773-3C>G VUS Gedge (2007)
Reported by ARUP Laboratories
Intron 6 Splice Site c.773-2A>G Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Fontalba (2008)
Intron 6 Splice Site c.773-2A>C Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Missense c.778A>C p.Ile260Leu Pending classification Bossler (2006)
Exon 7 Missense c.793A>C p.Thr265Pro Pending classification Argyriou (2006)
Exon 7 Deletion c.806_818del p.Ser269Cysfs*28 Pathogenic Submitted by Edinburgh
Exon 7 Deletion c.807_810del p.Ser270Argfs*30 Pathogenic Richards-Yutz (2010)
Exon 7 Deletion c.811_823del p.Thr271Serfs*26 Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
Exon 7 Missense c.812C>A p.Thr271Lys VUS Gedge (2007)
Reported by ARUP Laboratories
Exon 7 Silent c.817C>T p.Leu273Leu Benign Reported by ARUP Laboratories
Exon 7 Missense c.818T>C p.Leu273Pro VUS Abdalla (2005)
Westermann (2011)
Reported by ARUP Laboratories
Exon 7 Duplication c.821_824dup p.Ile276Alafs*117 Pathogenic Olivieri (2006)
Olivieri (2007)
Exon 7 Nonsense c.822G>A p.Trp274* Pathogenic Richards-Yutz (2010)
McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Missense c.827T>C p.Ile276Thr Pending classification Abdalla (2005)
Submitted by Edinburgh
Exon 7 Duplication c.829dup p.Thr277Asnfs*115 Pathogenic Submitted by Edinburgh
Exon 7 Missense c.830C>A p.Thr277Lys Pending classification Richards-Yutz (2010)
Exon 7 Silent c.831G>A p.Thr277Thr Pending classification Nishida (2012)
Exon 7 Duplication c.833_853dup p.His278_Ser284dup Pending classification Submitted by Edinburgh
Exon 7 Duplication c.835_837dup p.Tyr279dup Suspected Pathogenic Reported by ARUP Laboratories
Exon 7 Missense c.838C>G p.His280Asp Pending classification Lesca (2006)
Exon 7 Missense c.839A>G p.His280Arg Pending classification Richards-Yutz (2010)
Nishida (2012)
Komiyama (2014)
Exon 7 Deletion c.842del p.Glu281Glyfs*20 Pathogenic Schulte (2005)
Exon 7 Missense c.851C>T p.Ser284Phe Pending classification Abdalla (2005)
Exon 7 Duplication c.853dup p.Leu285Profs*107 Pathogenic Olivieri (2007)
Exon 7 Missense c.853C>T p.Leu285Phe VUS Bayrak-Toydemir (2004)
Lesca (2004)
McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Missense c.854T>C p.Leu285Pro Pending classification Chida (2012)
Exon 7 Nonsense c.858C>G p.Tyr286* Pathogenic Lesca (2006)
Exon 7 Nonsense c.858C>A p.Tyr286* Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Letteoer (2005)
Giordano (2006)
Lenato (2006)
Olivieri (2007)
Exon 7 Deletion c.863_909del p.Phe288Cysfs*88 Pathogenic Reported by ARUP Laboratories
Exon 7 Duplication c.864dup p.Leu289Serfs*103 Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Exon 7 Missense c.866T>C p.Leu289Pro Pathogenic Bossler (2006)
Reported by ARUP Laboratories
Exon 7 Deletion c.870del p.Arg291Aspfs*10 Pathogenic Reported by ARUP Laboratories
Exon 7 Deletion c.872_873del p.Arg291Thrfs*100 Pathogenic Submitted by Edinburgh
Exon 7 Deletion c.874del p.Gln292Argfs*9 Pathogenic Torring (2014)
Exon 7 Nonsense c.874C>T p.Gln292* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Missense c.875A>C p.Gln292Pro Pending classification Schulte (2005)
Lesca (2006)
Exon 7 Missense c.881T>G p.Leu294Arg VUS Richards-Yutz (2010)
Reported by ARUP Laboratories
Exon 7 Missense c.890A>G p.His297Arg Suspected Benign Fernandez-L (2006)
McDonald (2009)
Reported by ARUP Laboratories
Exon 7 Missense c.905T>G p.Leu302Arg Pending classification Schulte (2005)
Lux (2013)
Exon 7 Deletion c.913del p.Ser305Profs*49 Pathogenic Assis (2007)
Exon 7 Missense c.913T>C p.Ser305Pro Suspected Pathogenic Abdalla (2005)
Reported by ARUP Laboratories
Exon 7 Missense c.914C>T p.Ser305Phe Pathogenic Gedge (2007)
Reported by ARUP Laboratories
Exon 7 Missense c.916G>C p.Ala306Pro Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Exon 7 Missense c.917C>A p.Ala306Glu Pending classification Torring (2014)
Exon 7 Missense c.919G>C p.Ala307Pro VUS Reported by ARUP Laboratories
Exon 7 Duplication c.921_927dup p.Leu310Metfs*84 Pathogenic Fontalba (2008)
Exon 7 Nonsense c.924C>A p.Cys308* Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Lenato (2006)
Olivieri (2007)
Reported by ARUP Laboratories
Exon 7 Missense c.925G>T p.Gly309Cys Pending classification Lesca (2006)
Exon 7 Missense c.925G>A p.Gly309Ser Pathogenic Letteoer (2005)
Gedge (2007)
McDonald (2011)
Nishida (2012)
Reported by ARUP Laboratories
Exon 7 Missense c.931G>A p.Ala311Thr VUS McDonald (2009)
Reported by ARUP Laboratories
Exon 7 Missense c.936C>G p.His312Gln Pending classification Fujiwara (2008)
Chida (2012)
Exon 7 Missense c.940C>T p.His314Tyr VUS Bayrak-Toydemir (2004)
Lesca (2004)
Schulte (2005)
Reported by ARUP Laboratories
Exon 7 Deletion c.941_951del p.His314Leufs*74 Pathogenic Torring (2014)
Exon 7 Missense c.950T>C p.Ile317Thr VUS Reported by ARUP Laboratories
Exon 7 Missense c.950T>A p.Ile317Asn Pending classification Submitted by Edinburgh
Exon 7 Missense c.955G>C p.Gly319Arg VUS Reported by ARUP Laboratories
Exon 7 Missense c.956G>A p.Gly319Asp Pending classification Lesca (2006)
Exon 7 Nonsense c.961C>T p.Gln321* Pathogenic Letteoer (2005)
Giordano (2006)
Lenato (2006)
Exon 7 Duplication c.969dup p.Pro324Thrfs*68 Pathogenic Komiyama (2014)
Exon 7 Deletion c.972del p.Ala325Profs*29 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Exon 7 Missense c.976A>G p.Ile326Val Pending classification Assis (2007)
Exon 7 Missense c.982C>T p.His328Tyr VUS Gedge (2007)
Komiyama (2014)
Reported by ARUP Laboratories
Exon 7 Missense c.983A>C p.His328Pro Pending classification Fernandez-L (2006)
Exon 7 Missense c.984C>A p.His328Gln VUS Richards-Yutz (2010)
Reported by ARUP Laboratories
Exon 7 Missense c.985C>T p.Arg329Cys Suspected Pathogenic Reported by ARUP Laboratories
Exon 7 Missense c.985C>A p.Arg329Ser VUS Reported by ARUP Laboratories
Exon 7 Missense c.986G>A p.Arg329His Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
Exon 7 Missense c.988G>T p.Asp330Tyr Pending classification Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
Fontalba (2008)
Exon 7 Missense c.988G>C p.Asp330His Pending classification Torring (2014)
Exon 7 Missense c.988G>A p.Asp330Asn Pending classification Letteoer (2005)
Lenato (2006)
Olivieri (2007)
Exon 7 Deletion c.991_1044del p.Phe331_Asp348del Pending classification Torring (2014)
Exon 7 Missense c.992T>C p.Phe331Ser Pending classification Bossler (2006)
Exon 7 Silent c.993C>T p.Phe331Phe Suspected Benign Lenato (2006)
Reported by ARUP Laboratories
Exon 7 Insertion c.994_995insGACTTA p.Phe331_Lys332
insArgLeu
Pathogenic Reported by ARUP Laboratories
Exon 7 Missense c.997A>G p.Ser333Gly Pending classification Schulte (2005)
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
Exon 7 Missense c.998G>A p.Ser333Asn Suspected Pathogenic Reported by ARUP Laboratories
Exon 7 Deletion c.1000del p.Arg334Alafs*20 Pathogenic Canzonieri (2014)
Exon 7 Indel c.1000_1005delinsG p.Arg334Glyfs*56 Pathogenic Bayrak-Toydemir (2004)
Exon 7 Missense c.1003A>C p.Asn335His Pending classification Richards-Yutz (2010)
Exon 7 Missense c.1004A>G p.Asn335Ser VUS Reported by ARUP Laboratories
Exon 7 Missense c.1006G>T p.Val336Leu Pending classification Olivieri (2002)
Exon 7 Missense c.1007T>A p.Val336Glu VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Duplication c.1010dup p.Val338Glyfs*54 Pathogenic Reported by ARUP Laboratories
Exon 7 Missense c.1010T>C p.Leu337Pro VUS Bayrak-Toydemir (2004)
Lesca (2004)
Exon 7 Deletion c.1010del p.Leu337Argfs*17 Pathogenic Lesca (2006)
McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Missense c.1013T>A p.Val338Asp Pending classification Torring (2014)
Exon 7 Missense c.1022A>T p.Asn341Ile Pending classification Torring (2014)
Exon 7 Missense c.1023C>G p.Asn341Lys Pending classification Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
Exon 7 Missense c.1025T>C p.Leu342Pro VUS Richards-Yutz (2010)
Reported by ARUP Laboratories
Exon 7 Nonsense c.1027C>T p.Gln343* Pathogenic Reported by ARUP Laboratories
Exon 7 Missense c.1030T>C p.Cys344Arg Pathogenic Bayrak-Toydemir (2006)
Bossler (2006)
Gedge (2007)
Fontalba (2008)
McDonald (2009)
Reported by ARUP Laboratories
Exon 7 Missense c.1031G>T p.Cys344Phe Pending classification Bayrak-Toydemir (2004)
Olivieri (2007)
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
Exon 7 Missense c.1033T>C p.Cys345Arg VUS Reported by ARUP Laboratories
Exon 7 Missense c.1034G>A p.Cys345Tyr VUS Reported by ARUP Laboratories
Exon 7 Deletion c.1037_1039del p.Ile346_Ala347
delinsThr
Pending classification Submitted by Edinburgh
Exon 7 Missense c.1039G>C p.Ala347Pro Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Ricard (2010)
Exon 7 Missense c.1040C>A p.Ala347Asp Pending classification Richards-Yutz (2010)
Nishida (2012)
Exon 7 Deletion c.1040_1042del p.Ala347del Pending classification Sankelo (2008)
Exon 7 Missense c.1042G>T p.Asp348Tyr VUS Reported by ARUP Laboratories
Exon 7 Deletion c.1042del p.Asp348Thrfs*6 Pathogenic Letteoer (2005)
Exon 7 Duplication c.1043_1048+1dup p.Asp348Glufs*46 Suspected Pathogenic Reported by ARUP Laboratories
Exon 7 Missense c.1046T>G p.Leu349Arg VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Missense c.1046T>C p.Leu349Pro Pending classification Richards-Yutz (2010)
Torring (2014)
Exon 7 Missense c.1048G>C p.Gly350Arg Pathogenic Letteoer (2005)
Gedge (2007)
McDonald (2011)
Reported by ARUP Laboratories
Exon 7 Missense c.1048G>A p.Gly350Ser Pending classification Schulte (2005)
Olivieri (2007)
Intron 7 Splice Site c.1048+1G>C Pathogenic Reported by ARUP Laboratories
Intron 7 Splice Site c.1048+1G>A Pathogenic Lesca (2006)
Intron 7 Splice Site c.1048+5G>T Pending classification Fontalba (2008)
Intron 7 Splice Site c.1048+5G>A Suspected Pathogenic Reported by ARUP Laboratories
Intron 7 Intronic c.1048+55_1048+58del Benign Gedge (2007)
Reported by ARUP Laboratories
Intron 7 Intronic c.1048+71T>A Suspected Benign Reported by ARUP Laboratories
Intron 7 Intronic c.1048+53G>T Benign Reported by ARUP Laboratories
Intron 7 Intronic c.1049-64C>T Benign Reported by ARUP Laboratories
Intron 7 Splice Site c.1049-4_1051del Pathogenic Submitted by Edinburgh
Intron 7 Splice Site c.1049-4_1049-2delinsCC Pathogenic Lenato (2006)
Intron 7 Splice Site c.1049-1G>A Pathogenic Richards-Yutz (2010)
Exon 8 Large Deletion EX8del Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 8 Missense c.1052T>C p.Leu351Pro VUS Reported by ARUP Laboratories
Exon 8 Missense c.1054G>C p.Ala352Pro Pending classification Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
Exon 8 Missense c.1055C>A p.Ala352Asp Pathogenic Prigoda (2006)
McDonald (2011)
Smoot (2009)
Song (2016)
Reported by ARUP Laboratories
Exon 8 Deletion c.1061_1068del p.Met354Thrfs*35 Pathogenic Letteoer (2005)
Exon 8 Missense c.1061T>A p.Met354Lys Pending classification Wehner (2006)
Exon 8 Duplication c.1062_1080dup p.Tyr361Alafs*37 Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
Exon 8 Nonsense c.1069C>T p.Gln357* Pathogenic Abdalla (2005)
Exon 8 Deletion c.1073del p.Gly358Alafs*57 Pathogenic Letteoer (2005)
Exon 8 Duplication c.1073dup p.Ser359Glnfs*33 Pathogenic Submitted by Edinburgh
Exon 8 Nonsense c.1083C>A p.Tyr361* Pathogenic Reported by ARUP Laboratories
Exon 8 Silent c.1092C>T p.Ile364Ile Pending classification Lenato (2006)
Exon 8 Deletion c.1102_1105del p.Pro368Glufs*46 Pathogenic Reported by ARUP Laboratories
Exon 8 Deletion c.1107_1108del p.Arg369Serfs*22 Pathogenic Letteoer (2005)
Exon 8 Missense c.1111G>A p.Gly371Ser VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 8 Missense c.1112G>T p.Gly371Val VUS Gedge (2007)
Reported by ARUP Laboratories
Exon 8 Duplication c.1112dup p.Thr372Hisfs*20 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Lesca (2004)
Lesca (2006)
Ricard (2010)
Exon 8 Missense c.1115C>T p.Thr372Ile Pending classification Lenato (2006)
Wehner (2006)
Exon 8 Deletion c.1118del p.Lys373Serfs*42 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
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
Exon 8 Deletion c.1120_1137 p.Arg374_Glu379del Pending classification Letteoer (2005)
Exon 8 Insertion c.1120_1121insCACGAGCAC p.Lys373_Arg374
insProArgAla
Pending classification Kjeldsen (2005)
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
Exon 8 Duplication c.1122_1125dup p.Met376Valfs*17 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Exon 8 Missense c.1123T>C p.Tyr375His VUS Abdalla (2003)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
Exon 8 Missense c.1124A>G p.Tyr375Cys Pending classification Chen (2013)
Exon 8 Missense c.1126A>G p.Met376Val Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Gedge (2007)
Olivieri (2007)
Reported by ARUP Laboratories
Exon 8 Missense c.1127T>G p.Met376Arg Pathogenic Johnson (1996)
Berg (1997)
Bayrak-Toydemir (2004)
Wehner (2006)
McDonald (2011)
Reported by ARUP Laboratories
Exon 8 Missense c.1127T>C p.Met376Thr Pending classification Fernandez-L (2006)
Exon 8 Missense c.1127T>A p.Met376Lys Pending classification Olivieri (2006)
Olivieri (2007)
Exon 8 Missense c.1129G>A p.Ala377Thr Pending classification Fernandez-L (2006)
Exon 8 Missense c.1130C>T p.Ala377Val VUS Reported by ARUP Laboratories
Exon 8 Silent c.1131A>G p.Ala377Ala Benign Reported by ARUP Laboratories
Exon 8 Missense c.1132C>T p.Pro378Ser Suspected Pathogenic Richards-Yutz (2010)
McDonald (2011)
Komiyama (2014)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 8 Missense c.1133C>T p.Pro378Leu VUS Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 8 Missense c.1133C>A p.Pro378His Pending classification Abdalla (2005)
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
Exon 8 Missense c.1139T>G p.Val380Gly Pending classification Letteoer (2005)
Olivieri (2006)
Olivieri (2007)
Exon 8 Missense c.1142T>C p.Leu381Pro Pending classification Fujiwara (2008)
Ricard (2010)
Chida (2012)
Exon 8 Missense c.1144G>C p.Asp382His VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 8 Duplication c.1153_1157dup p.Thr387Serfs*30 Pathogenic Richards-Yutz (2010)
Reported by ARUP Laboratories
Exon 8 Missense c.1156C>T p.Arg386Cys Pending classification Ricard (2010)
Exon 8 Missense c.1157G>A p.Arg386His Pending classification Abdalla (2005)
Exon 8 Silent c.1161G>A p.Thr387Thr Suspected Benign Reported by ARUP Laboratories
Exon 8 Nonsense c.1171G>T p.Glu391* Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Exon 8 Missense c.1186A>G p.Thr396Ala Pending classification Pousada (2014)
Exon 8 Missense c.1187C>A p.Thr396Asn Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 8 Missense c.1189G>A p.Asp397Asn Pending classification Letteoer (2005)
Exon 8 Missense c.1190A>G p.Asp397Gly Pending classification Lesca (2004)
Exon 8 Missense c.1190A>T p.Asp397Val Pending classification Submitted by Edinburgh
Exon 8 Missense c.1193T>A p.Ile398Asn Pending classification Kjeldsen (2001)
Bayrak-Toydemir (2004)
Exon 8 Missense c.1195T>C p.Trp399Arg Pending classification Chen (2013)
Exon 8 Missense c.1195T>G p.Trp399Gly Suspected Pathogenic Reported by ARUP Laboratories
Exon 8 Missense c.1196G>C p.Trp399Ser Pending classification Harrison (2003)
Bayrak-Toydemir (2004)
Exon 8 Missense c.1198G>A p.Ala400Thr Pending classification Richards-Yutz (2010)
Exon 8 Missense c.1199C>A p.Ala400Asp Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2006)
Olivieri (2007)
Canzonieri (2014)
Reported by ARUP Laboratories
Exon 8 Missense c.1204G>A p.Gly402Ser Pathogenic Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
Assis (2007)
Reported by ARUP Laboratories
Exon 8 Missense c.1205G>A p.Gly402Asp Pending classification Fontalba (2008)
Exon 8 Missense c.1208T>C p.Leu403Pro Pending classification Argyriou (2006)
Giordano (2006)
Lenato (2006)
Exon 8 Missense c.1210G>T p.Val404Leu VUS Reported by ARUP Laboratories
Exon 8 Missense c.1214T>A p.Leu405Gln Suspected Pathogenic Reported by ARUP Laboratories
Exon 8 Deletion c.1215del p.Trp406Glyfs*9 Pathogenic McDonald (2011)
Submitted by Edinburgh
Reported by ARUP Laboratories
Exon 8 Missense c.1218G>T p.Try406Cys Pending classification Lenato (2006)
Exon 8 Missense c.1218G>C p.Trp406Cys Pending classification Letteoer (2005)
Exon 8 Missense c.1219G>A p.Glu407Lys Pathogenic Reported by ARUP Laboratories
Exon 8 Missense c.1220A>G p.Glu407Gly Pathogenic Gedge (2007)
Reported by ARUP Laboratories
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
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
Exon 8 Silent c.1231C>A p.Arg411Arg Pending classification Abdalla (2003)
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
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
Exon 8 Indel c.1234_1235delinsCA p.Thr412His VUS Reported by ARUP Laboratories
Exon 8 Splice Site c.1246G>A p.Gly416Ser Pathogenic Argyriou (2006)
Lesca (2006)
McDonald (2011)
Reported by ARUP Laboratories
Intron 8 Splice Site c.1246+1G>A Pathogenic Bossler (2006)
Reported by ARUP Laboratories
Intron 8 Splice Site c.1246+2T>C Pathogenic Richards-Yutz (2010)
Intron 8 Splice Site c.1246+9C>T Benign Reported by ARUP Laboratories
Intron 8 Intronic c.1246+19C>T Benign Reported by ARUP Laboratories
Intron 8 Intronic c.1247-86_1247-84delinsTAT Benign Reported by ARUP Laboratories
Intron 8 Intronic c.1247-15A>G Benign Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 9-10 Large Deletion EX9-10del Pathogenic Prigoda (2006)
Exon 9 Missense c.1249A>T p.Ile417Phe VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 9 Deletion c.1250_1269del p.Ile417Thrfs*4 Pathogenic Submitted by Edinburgh
Exon 9 Missense c.1261T>G p.Tyr421Asp Pending classification Fontalba (2008)
Exon 9 Deletion c.1269del p.Phe425Serfs*14 Pathogenic Wehner (2006)
Exon 9 Deletion c.1270_1290del p.Pro424_Pro430del Pending classification Brakensiek (2008)
Exon 9 Missense c.1270C>A p.Pro424Thr Pending classification Berg (1997)
Bayrak-Toydemir (2004)
Fujiwara (2008)
Chida (2012)
Exon 9 Missense c.1270C>T p.Pro424Ser Suspected Pathogenic Abdalla (2005)
Reported by ARUP Laboratories
Exon 9 Missense c.1271C>A p.Pro424His Pending classification Submitted by Edinburgh
Exon 9 Missense c.1271C>G p.Pro424Arg Pending classification Richards-Yutz (2010)
Exon 9 Missense c.1271C>T p.Pro424Leu Pathogenic Letteoer (2005)
Jia (2012)
Komiyama (2014)
Reported by ARUP Laboratories
Exon 9 Missense c.1273T>C p.Phe425Leu Pathogenic Reported by ARUP Laboratories
Exon 9 Missense c.1273T>G p.Phe425Val Pending classification Kuehl (2005)
Exon 9 Deletion c.1274_1276del p.Phe425del Pending classification Kuehl (2005)
Exon 9 Missense c.1275C>G p.Phe425Leu Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Lenato (2006)
Exon 9 Missense c.1277A>G p.Tyr426Cys Pending classification Bossler (2006)
Nishida (2012)
Exon 9 Missense c.1280A>T p.Asp427Val Pending classification Lenato (2006)
Lesca (2006)
Montani(2009)
Girerd (2010)
Exon 9 Missense c.1297C>T p.Pro433Ser Pending classification Letteoer (2005)
Exon 9 Missense c.1298C>A p.Pro433His Pending classification Submitted by Edinburgh
Exon 9 Missense c.1298C>G p.Pro433Arg Pending classification Bossler (2006)
Exon 9 Deletion c.1299del p.Ser434Alafs*5 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Canzonieri (2014)
Exon 9 Indel c.1302_1303delinsA p.Ser434Argfs*5 Pathogenic Argyriou (2006)
Exon 9 Deletion c.1309delG p.Asp437Thrfs*2 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 9 Missense c.1310A>G p.Asp437Gly VUS McDonald (2011)
Reported by ARUP Laboratories
Exon 9 Missense c.1313T>C p.Met438Thr Pathogenic Letteoer (2005)
Submitted by Edinburgh
Reported by ARUP Laboratories
Exon 9 Missense c.1313T>G p.Met438Arg Pending classification McDonald (2011)
Reported by ARUP Laboratories
Exon 9 Nonsense c.1315A>T p.Lys439* Pathogenic Reported by ARUP Laboratories
Exon 9 Deletion c.1318_1320del p.Lys440del VUS Bossler (2006)
Reported by ARUP Laboratories
Exon 9 Missense c.1321G>A p.Val441Met Pending classification Abdalla (2005)
Lenato (2006)
Exon 9 Deletion c.1324_1326del p.Val442del Pending classification McDonald (2011)
Reported by ARUP Laboratories
Exon 9 Missense c.1324G>A p.Val442Met Pending classification Girerd (2010)
Exon 9 Missense c.1325T>C p.Val442Ala VUS Brakensiek (2008)
Reported by ARUP Laboratories
Exon 9 Duplication c.1331_1332dup p.Asp445Trpfs*21 Pathogenic Reported by ARUP Laboratories
Exon 9 Silent c.1335T>C p.Asp445Asp Suspected Benign Reported by ARUP Laboratories
Exon 9 Nonsense c.1336C>T p.Gln446* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 9 Missense c.1345C>A p.Pro449Thr Pending classification Fontalba (2008)
Exon 9 Missense c.1345C>T p.Pro449Ser VUS Richards-Yutz (2010)
Reported by ARUP Laboratories
Exon 9 Missense c.1346C>T p.Pro449Leu Pending classification Wehner (2006)
Exon 9 Duplication c.1347dup p.Thr450Hisfs*4 Pathogenic Reported by ARUP Laboratories
Exon 9 Missense c.1348A>G p.Thr450Ala VUS Reported by ARUP Laboratories
Exon 9 Deletion c.1354_1355del p.Pro452* Pathogenic Reported by ARUP Laboratories
Exon 9 Missense c.1355C>T p.Pro452Leu Pathogenic Abdalla (2005)
McDonald (2009)
McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
Exon 9 Missense c.1360C>T p.Arg454Trp Suspected Benign Ricard (2010)
Reported by ARUP Laboratories
Exon 9 Deletion c.1361_1375del p.Arg454_Asp458del VUS Reported by ARUP Laboratories
Exon 9 Missense c.1361G>A p.Arg454Gln VUS Reported by ARUP Laboratories
Exon 9 Silent c.1377G>A p.Pro459Pro VUS Reported by ARUP Laboratories
Intron 9 Splice Site c.1377+1G>A Pathogenic Kuehl (2005)
McDonald (2011)
Reported by ARUP Laboratories
Intron 9 Splice Site c.1377+2T>G Pathogenic Lenato (2006)
Intron 9 Intronic c.1377+45T>C Benign Gedge (2007)
Reported by ARUP Laboratories
Intron 9 Intronic c.1377+65A>G Benign Simon (2006)
Gedge (2007)
Reported by ARUP Laboratories
Intron 9 Intronic c.1377+88G>A Benign Reported by ARUP Laboratories
Intron 9 Intronic c.1378-155T>G Benign Reported by ARUP Laboratories
Intron 9 Intronic c.1378-62C>A Benign Reported by ARUP Laboratories
Intron 9 Intronic c.1378-49C>T Benign Reported by ARUP Laboratories
Intron 9 Intronic c.1378-30T>C Benign Reported by ARUP Laboratories
Submitted by Edinburgh
Intron 9 Splice Site c.1378-2A>G Pathogenic Wehner (2006)
Intron 9 Splice Site c.1378-1G>T Pathogenic Fontalba (2008)
Exon 10 Large Deletion EX10del Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 10 Nonsense c.1385C>G p.Ser462* Pathogenic Abdalla (2004)
Olivieri (2007)
Exon 10 Deletion c.1388del p.Gly463Alafs*2 Pathogenic Girerd (2010)
Eyries (2012)
Exon 10 Deletion c.1390del p.Leu464* Pathogenic Eyries (2012)
Exon 10 Nonsense c.1396C>T p.Gln466* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Exon 10 Missense c.1405C>T p.Arg469Trp VUS Fontalba (2008)
Reported by ARUP Laboratories
Exon 10 Nonsense c.1408G>T p.Glu470* Pathogenic Letteoer (2005)
Exon 10 Missense c.1411T>C p.Cys471Arg VUS Reported by ARUP Laboratories
Exon 10 Nonsense c.1413C>A p.Cys471* Pathogenic Bossler (2006)
Nishida (2012)
Reported by ARUP Laboratories
Exon 10 Deletion c.1414_1419del p.Trp472_Tyr473del Pending classification Submitted by Edinburgh
Exon 10 Missense c.1427C>T p.Pro476Leu VUS Reported by ARUP Laboratories
Exon 10 Duplication c.1428dup p.Ser477Leufs*17 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Exon 10 Missense c.1433C>A p.Ala478Asp Pending classification Chida (2012)
Exon 10 Missense c.1433C>T p.Ala478Val VUS Reported by ARUP Laboratories
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
Exon 10 Deletion c.1436del p.Arg479Hisfs*23 Pending classification Richards-Yutz (2010)
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
Exon 10 Missense c.1436G>C p.Arg479Pro VUS Richards-Yutz (2010)
Reported by ARUP Laboratories
Exon 10 Missense c.1436G>T p.Arg479Leu Pending classification Bayrak-Toydemir (2004)
Lesca (2004)
Exon 10 Missense c.1438C>T p.Leu480Phe VUS Olivieri (2007)
Reported by ARUP Laboratories
Exon 10 Deletion c.1439_1506del p.Leu480Profs*32 Pending classification Shoukier (2008)
Exon 10 Missense c.1445C>A p.Ala482Glu VUS Olivieri (2007)
McDonald (2011)
Reported by ARUP Laboratories
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
Exon 10 Missense c.1450C>G p.Arg484Gly Pending classification Jones (2014)
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
Exon 10 Indel c.1450delinsTG p.Arg484Trpfs*10 Pathogenic Abdalla (2004)
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
Exon 10 Missense c.1451G>T p.Arg484Leu Pending classification Brakensiek (2008)
Exon 10 Silent c.1452G>A p.Arg484Arg Pending classification Prigoda (2006)
Exon 10 Missense c.1453A>T p.Ile485Phe Pending classification Ricard (2010)
Exon 10 Duplication c.1453dup p.Ile485Asnfs*9 Pending classification Bossler (2006)
Exon 10 Missense c.1454T>A p.Ile485Asn Pending classification Submitted by Edinburgh
Exon 10 Missense c.1456A>G p.Lys486Glu Pending classification Richards-Yutz (2010)
Exon 10 Deletion c.1460_1462del p.Lys487del VUS Gedge (2007)
Reported by ARUP Laboratories
Exon 10 Missense c.1460A>C p.Lys487Thr Pending classification Harrison (2003)
Bayrak-Toydemir (2004)
Exon 10 Nonsense c.1468C>T p.Gln490* Pathogenic Trembath (2001)
Bayrak-Toydemir (2004)
El-Harith (2006)
Lenato (2006)
Exon 10 Missense c.1475T>A p.Ile492Asn Pending classification Kjeldsen (2005)
3'UTR Regulatory c.*39G>A Benign Reported by ARUP Laboratories
3'UTR Regulatory c.*45del Suspected Benign Reported by ARUP Laboratories
3'UTR Regulatory c.*58G>A Benign Gedge (2007)
Reported by ARUP Laboratories
3'UTR Regulatory c.*110G>A Benign Reported by ARUP Laboratories
3'UTR Regulatory c.*119C>T Benign Reported by ARUP Laboratories
3'UTR Regulatory c.*132G>A Benign Reported by ARUP Laboratories