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


572 variants found

( *Independent Observations )

Genomic Position Location Mutation
Type
Nucleotide
Change
Protein
Change
Classification Ind * Obs References Comments
52301202 Whole gene Deletion c.? p.0 Pathogenic Shoukier (2008)
52301433 Exon 1 (5'UTR) Missense c.-52G>A p.? Benign Reported by ARUP Laboratories
52301452 Exon 1 (5'UTR) Missense c.-33C>T p.? Benign Reported by ARUP Laboratories
52301462 Exon 1 (5'UTR) Missense c.-23C>T p.? VUS Olivieri (2007)
52306216 Intron 1 Missense c.-5-38C>T p.? Pending Classification Abdalla (2003)
Lenato (2006)
Simon (2006)
Olivieri (2007)
Submitted by Edinburgh
52306259 Exon 2 Large Deletion ex. 2-7 p.? VUS Tørring (2014)
52306263 Exon 2 Missense c.5C>T p.Thr2Ile VUS Reported by ARUP Laboratories
52306282 Exon 2 Missense c.24A>T p.Lys8Ans Suspected Pathogenic Pousada (2014)
52306289 Exon 2 Deletion c.31_50del p.Leu11Glyfs*20 Pathogenic Gedge (2007)
Reported by ARUP Laboratories
52306295 Exon 2 Deletion c.37del p.Leu13Cysfs*2 Pathogenic Trembath (2001)
Bayrak-Toydemir (2004)
Lesca (2004)
52306308 Exon 2 Duplication c.50dup p.Leu17Phefs*21 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52306308 Exon 2 Deletion c.50_53del p.Leu*17 Pathogenic Olivieri (2007)
52306319 Exon 2 Large Deletion c.61_1247del p.Gly21Hisfs*6 Pending Classification Prigoda (2006)
Richards-Yutz (2010)
Boeri (2013)
52306320 Intron 2 Missense c.61+1G>A p.? Pathogenic Reported by ARUP Laboratories
52306329 Intron 2 Splice Site c.61+10G>A p.? Pathogenic Lesca (2004)
52306341 Intron 2 Splice Site c.61+22A>G p.? Benign Reported by ARUP Laboratories
Submitted by Edinburgh
52306814 Intron 2 Missense c.62-69G>T p.? Benign Reported by ARUP Laboratories
52306886 Exon 3 Deletion c.65del p.Asp22Alafs*3 Pathogenic Reported by ARUP Laboratories
52306890 Exon 3 Deletion c.69del p.Val24* Pathogenic Reported by ARUP Laboratories
52306895 Exon 3 Delins c.74_78delins176 p.? Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52306898 Exon 3 Missense c.77 C>T p.Pro26Leu VUS Reported by ARUP Laboratories
52306902 Exon 3 Duplication c.81dup p.Arg28Serfs*10 Pathogenic Lee (2009)
52306907 Exon 3 Deletion c.86del p.Gly29Alafs*4 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Letteoer (2005)
52306908 Exon 3 Missense c.87C>T p.Gly29Gly Suspected Benign Reported by ARUP Laboratories
52306909 Exon 3 Missense c.88C>T p.Pro30Ser Pathogenic Bossler (2006)
52306911 Exon 3 Missense c.90G>A p.Pro30Pro Suspected Benign Reported by ARUP Laboratories
52306916 Exon 3 Missense c.95T>G p.Val32Gly Suspected Pathogenic Lesca (2006)
52306916 Exon 3 Missense c.95T>A p.Val32Glu VUS Komiyama (2014)
52306921 Exon 3 Duplication c.100dup p.Cys34Leufs*4 Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52306921 Exon 3 Deletion c.100_115del p.Cys34Hisfs*15 Pathogenic Schulte (2005)
52306922 Exon 3 Missense c.101G>A p.Cys34Tyr Pathogenic Bossler (2006)
Al-Saleh (2011)
52306923 Exon 3 Missense c.102C>A p.Cys34* Pathogenic Lesca (2006)
52306927 Exon 3 Missense c.106T>C p.Cys36Arg Pathogenic Reported by ARUP Laboratories
52306928 Exon 3 Missense c.107G>A p.Cys36Tyr Pathogenic Fernandez-L (2006)
Fontabla (2008)
52306933 Exon 3 Missense c.112A>T p.Ser38Cys VUS Richards-Yutz (2010)
52306936 Exon 3 Duplication c.115_118dup p.His40Profs*130 Pathogenic Lenato (2006)
52306942 Exon 3 Missense c.121T>C p.Cys41Arg Pathogenic Lenato (2006)
Reported by ARUP Laboratories
52306949 Exon 3 Deletion c.128_132del p.Gly43Aspfs*124 Pathogenic Wehner (2006)
52306950 Exon 3 Deletion c.129del p.Pro44Leufs*10 Pathogenic Reported by ARUP Laboratories
52306957 Exon 3 Missense c.136T>G p.Cys46Gly VUS Al-Saleh (2011)
52306957 Exon 3 Delins c.136_137delinsCT p.Cys46Leu Pathogenic Wehner (2006)
52306959 Exon 3 Missense c.138C>A p.Cys46* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52306960 Exon 3 Insertion c.139_140insCG p.Arg47Profs*8 Pathogenic Tørring (2014)
52306960 Exon 3 Duplication c.139dup p.Arg47Profs*122 Pathogenic Bossler (2006)
52306961 Exon 3 Missense c.140G>C p.Arg47Pro Pathogenic Fernandez-L (2006)
Wehner (2006)
Nishida (2012)
Reported by ARUP Laboratories
52306963 Exon 3 Missense c.142G>A p.Gly48Arg Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52306964 Exon 3 Missense c.143G>A p.Gly48Glu Pathogenic Brusgaard (2004)
Olivieri (2007)
McDonald (2011)
Reported by ARUP Laboratories
52306964 Exon 3 Delins c.143_147delinsAGCCT p.Gly48_Ala49
delinsGluPro
Pathogenic Abdalla (2000)
Bayrak-Toydemir (2004)
52306966 Exon 3 Duplication c.145dup p.Ala49Glyfs*120 Pathogenic Klaus (1998)
Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
Fontabla (2008)
McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
52306966 Exon 3 Deletion c.145del p.Ala49Profs*5 Pathogenic Olivieri (2002)
Olivieri (2007)
Reported by ARUP Laboratories
52306968 Exon 3 Deletion c.147del p.Trp50Glyfs*4 Pathogenic Jia  (2012)
52306969 Exon 3 Missense c.148T>G p.Trp50Gly Pathogenic Argyriou (2006)
52306970 Exon 3 Missense c.149G>A p.Trp50* Pathogenic Kuehl (2005)
Wehner (2006)
52306971 Exon 3 Missense c.150G>T p.Trp50Cys Pathogenic Berg (1997)
Klaus (1998)
Abdalla (2000)
Abdalla (2003)
Bayrak-Toydemir (2004)
Submitted by Edinburgh
52306971 Exon 3 Missense c.150G>A p.Trp50* Pathogenic Letteoer (2005)
Sankelo (2008)
52306973 Exon 3 Missense c.152G>A p.Cys51Tyr Pathogenic Klaus (1998)
Olivieri (2002)
Bayrak-Toydemir (2004)
Giordano (2006)
Lenato (2006)
Olivieri (2006)
Olivieri (2007)
Ricard (2010)
Canzonieri (2014)
Reported by ARUP Laboratories
52306975 Exon 3 Missense c.154A>G p.Thr52Ala Pathogenic Bossler (2006)
52306975 Exon 3 Deletion c.154_169del p.Thr52Glyfs*65 VUS Submitted by Edinburgh
52306976 Exon 3 Deletion c.155del p.Thr52Lysfs*2 Pathogenic Tørring (2014)
52306985 Exon 3 Missense c.164T>C p.Leu55Pro VUS Submitted by Edinburgh
52306985 Exon 3 Deletion c.164_169del p.Leu55_Val56del Pathogenic Olivieri (2006)
Olivieri (2007)
Canzonieri (2014)
52306993 Exon 3 Missense c.172G>T p.Glu58* Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2006)
Olivieri (2007)
52306997 Exon 3 Missense c.176A>T p.Glu59Val VUS Pousada (2014)
52307004 Exon 3 Deletion c.183del p.Arg61Serfs*61 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307011 Exon 3 Deletion c.190del p.Gln64Argfs*58 Pathogenic Letteoer (2005)
Schulte (2005)
Reported by ARUP Laboratories
52307012 Exon 3 Deletion c.191del p.Gln64Argfs*58 Pathogenic Bossler (2006)
Reported by ARUP Laboratories
52307014 Exon 3 Missense c.193G>T p.Glu65* Pathogenic Reported by ARUP Laboratories
52307018 Exon 3 Missense c.197A>C p.His66Pro Pathogenic Argyriou (2006)
Lenato (2006)
52307020 Exon 3 Missense c.199C>T p.Arg67Trp Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Abdalla (2005)
Kuehl (2005)
Olivieri (2007)
Chen (2013)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307020 Exon 3 Missense c.199C>G p.Arg67Gly VUS Reported by ARUP Laboratories
52307021 Exon 3 Missense c.200G>A p.Arg67Gln Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Schulte (2005)
Giordano (2006)
Lenato (2006)
Olivieri (2007)
Brakensiek (2008)
Canzonieri (2014)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307023 Exon 3 Missense c.202G>T p.Gly68Cys Pathogenic Fernandez-L (2006)
52307024 Exon 3 Duplication c.203dup p.Cys69Leufs*100 Pathogenic Olivieri (2006)
Assis (2007)
Olivieri (2007)
52307024 Exon 3 Deletion c.203del p.Gly68Alafs*54 Pathogenic Letteoer (2005)
52307026 Exon 3 Duplication c.205_209dup p.Asn71Alafs*53 Pathogenic Olivieri (2007)
52307026 Exon 3 Missense c.205T>C p.Cys69Arg Pathogenic Argyriou (2006)
52307027 Exon 3 Missense c.206G>T p.Cys69Phe Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307027 Exon 3 Missense c.206G>A p.Cys69Tyr Pathogenic Lesca (2006)
52307028 Exon 3 Missense c.207C>T p.Cys68Cys Benign Reported by ARUP Laboratories
52307028 Exon 3 Missense c.207C>A p.Cys69* VUS Richards-Yutz (2010)
52307029 Exon 3 Missense c.208G>A p.Gly70Arg Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307035 Exon 3 Deletion c.214_219del p.Leu72_His73del Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307036 Exon 3 Deletion c.215del p.Leu72Cysfs*50 Pathogenic Wehner (2006)
52307039 Exon 3 Insertion c.218_219insAA p.His73Glnfs*50 Pathogenic Lenato (2006)
52307050 Exon 3 Deletion c.229_240del p.Cys77_Arg80del Pathogenic Wehner (2006)
52307051 Exon 3 Missense c.230G>A p.Cys77Tyr Pathogenic Olivieri (2007)
52307052 Exon 3 Missense c.231C>G p.Cys77Trp Pathogenic Klaus (1998)
Bayrak-Toydemir (2004)
Ricard (2010)
52307056 Exon 3 Missense c.235G>A p.Gly79Arg Pathogenic Olivieri (2006)
Olivieri (2007)
52307057 Exon 3 Missense c.236G>A p.Gly79Glu VUS Reported by ARUP Laboratories
52307058 Exon 3 Duplication c.237dup p.Arg80Alafs*89 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
52307064 Exon 3 Duplication c.243dup p.Thr82Hisfs*87 Pathogenic Lesca (2004)
Bayrak-Toydemir (2004)
52307064 Exon 3 Deletion c.243del p.Thr82Profs*40 VUS Submitted by Edinburgh
52307065 Exon 3 Deletion c.244_246del p.Thr82del Pathogenic Fernandez-L (2006)
52307067 Exon 3 Deletion c.246del p.Glu83Serfs*39 Pathogenic Kuehl (2005)
52307073 Exon 3 Duplication c.252dup p.Val85Argfs*84 Pathogenic Kim (2011)
52307074 Exon 3 Missense c.253G>A p.Val85Ile VUS Reported by ARUP Laboratories
52307080 Exon 3 Missense c.259C>G p.His87Asp Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307080 Exon 3 Deletion c.259del p.His87Thrfs*35 VUS Submitted by Edinburgh
52307084 Exon 3 Missense c.263A>G p.Tyr88Cys Pathogenic Gedge (2007)
Reported by ARUP Laboratories
52307086 Exon 3 Missense c.265T>C p.Cys89Arg Pathogenic Reported by ARUP Laboratories
52307087 Exon 3 Missense c.266G>A p.Cys89Tyr Pathogenic Olivieri (2007)
52307090 Exon 3 Missense c.269G>T p.Cys90Phe VUS Submitted by Edinburgh
52307090 Exon 3 Missense c.269G>A p.Cys90Tyr Pathogenic Lesca (2006)
Gedge (2007)
Reported by ARUP Laboratories
52307091 Exon 3 Missense c.270C>G p.Cys90Trp Pathogenic Komiyama (2014)
52307091 Exon 3 Missense c.270C>A p.Cys90* Pathogenic McDonald (2009)
McDonald (2011)
Reported by ARUP Laboratories
52307104 Exon 3 Missense c.283T>C p.Cys95Arg Pathogenic Lenato (2006)
52307107 Exon 3 Missense c.286A>G p.Asn96Asp Pathogenic Klaus (1998)
Bayrak-Toydemir (2004)
Ricard (2010)
52307108 Exon 3 Missense c.287A>G p.Asn96Ser Pathogenic Richards-Yutz (2010)
Jia  (2012)
52307110 Exon 3 Deletion c.289_295del p.His97Cysfs*23 Pathogenic Reported by ARUP Laboratories
52307110 Exon 3 Deletion c.289_294del p.His97_Ans98del Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2006)
Olivieri (2007)
Canzonieri (2014)
52307114 Exon 3 Missense c.293A>G p.Asn98Ser Pathogenic Prigoda (2006)
Brakensiek (2008)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307119 Exon 3 Deletion c.298del p.Ser100Profs*22 VUS Submitted by Edinburgh
52307122 Exon 3 Deletion c.301_307del p.Leu101Trpfs*19 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52307135 Intron 3 Missense c.313+1G>A p.? Pathogenic Reported by ARUP Laboratories
52307145 Intron 3 Splice Site c.313+11C>T p.? Benign Lenato (2006)
Olivieri (2007)
Smoot (2009)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307154 Intron 3 Missense c.313+20C>A p.? VUS Pousada (2015)
52307278 Intron 3 Missense c.314-65G>C p.? Benign Reported by ARUP Laboratories
52307294 Intron 3 Missense c.314-49G>C p.? Benign Reported by ARUP Laboratories
52307294 Intron 3 Missense c.314-49G>A p.? VUS Gedge (2007)
52307308 Intron 3 Missense c.314-35A>G p.? Benign Prigoda (2006)
Simon (2006)
Smoot (2009)
Pawlikowska (2005)
Reported by ARUP Laboratories
52307340 Intron 3 Splice Site c.314-3C>G p.? Pathogenic Prigoda (2006)
Olivieri (2007)
52307343 Exon 4 Large Deletion c.314-?_525+? p.? VUS McDonald (2011)
52307348 Exon 4 Deletion c.319del p.Gln107Asnfs*15 Pathogenic Argyriou (2006)
52307350 Exon 4 Deletion c.321del p.Gln107Hisfs*15 Pathogenic Olivieri (2006)
Olivieri (2007)
52307358 Exon 4 Missense c.329C>A p.Ser110* Pathogenic Reported by ARUP Laboratories
52307359 Exon 4 Missense c.330G>A p.Ser110Ser Benign Simon (2006)
Gedge (2007)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307363 Exon 4 Missense c.334C>T p.Gln112* Pathogenic Reported by ARUP Laboratories
52307381 Exon 4 Missense c.352C>T p.Gln118* Pathogenic Letteoer (2005)
52307382 Exon 4 Duplication c.353_360dup p.Leu121Serfs*4 Pathogenic Fontabla (2008)
52307383 Exon 4 Missense c.354G>C p.Gln118His Benign Reported by ARUP Laboratories
52307393 Exon 4 Deletion c.364del p.Ile122Serfs*43 VUS Richards-Yutz (2010)
52307403 Exon 4 Duplication c.374_375dup p.Val126Profs*40 Pathogenic Letteoer (2005)
52307405 Exon 4 Missense c.376G>A p.Val126Met VUS Reported by ARUP Laboratories
52307410 Exon 4 Missense c.381G>A p.Leu127Leu Benign Reported by ARUP Laboratories
52307412 Exon 4 Missense c.383C>A p.Ala128Asp Pathogenic Abdalla (2005)
52307429 Exon 4 Deletion c.400del p.Ala134Profs*31 Pathogenic Klaus (1998)
Bayrak-Toydemir (2004)
52307430 Exon 4 Missense c.401C>A p.Ala134Asp VUS Reported by ARUP Laboratories
52307435 Exon 4 Deletion c.406_409del p.Gly136Serfs*28 Pathogenic Klaus (1998)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
52307442 Exon 4 Missense c.413T>C p.Leu138Pro VUS Richards-Yutz (2010)
52307452 Exon 4 Missense c.423G>A p.Trp141* Pathogenic Berg (1997)
Abdalla (2003)
Bayrak-Toydemir (2004)
McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307459 Exon 4 Missense 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
52307464 Exon 4 Duplication c.435dup p.Arg146Glufs*23 Pathogenic Bossler (2006)
52307464 Exon 4 Deletion c.435del p.Arg146Glyfs*19 Pathogenic Fernandez-L (2005)
Fernandez-L (2006)
Olivieri (2007)
52307467 Exon 4 Delins c.438_439delinsTT p.Arg146_Gln503
delinsSer
VUS Submitted by Edinburgh
52307468 Exon 4 Missense c.439C>T p.Gln147* Pathogenic Letteoer (2005)
52307477 Exon 4 Missense c.448C>T p.Gln150* Pathogenic Lenato (2006)
Olivieri (2007)
52307503 Exon 4 Missense c.474A>T p.Gly158Gly Suspected Pathogenic Bossler (2006)
52307504 Exon 4 Missense c.475G>T p.Glu159* Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307505 Exon 4 Missense c.476A>T p.Glu159Val VUS Pousada (2014)
52307505 Exon 4 Deletion c.476_477del p.Glu159Valfs*9 Pathogenic Olivieri (2007)
Reported by ARUP Laboratories
52307509 Exon 4 Duplication c.480_486dup p.Ile163Glnfs*8 Pathogenic Komiyama (2014)
52307509 Exon 4 Deletion c.480_481del p.Leu162Hisfs*6 Pathogenic Schulte (2005)
52307510 Exon 4 Missense c.481A>G p.Ser161Gly Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307513 Exon 4 Missense c.484C>T p.Leu162Phe Suspected Benign Reported by ARUP Laboratories
52307529 Exon 4 Missense c.500C>G p.Ser167Cys VUS Gedge (2007)
52307534 Exon 4 Missense c.505C>T p.Gln169* Pathogenic Komiyama (2014)
52307539 Exon 4 Deletion c.510del p.Asp171Thrfs*87 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52307545 Exon 4 Duplication c.516dup p.Met173Hisfs*9 VUS Submitted by Edinburgh
52307554 Exon 4 Deletion c.525_525+1del p.Asp176Thrfs*82 Suspected Pathogenic Lesca (2006)
52307555 Intron 4 Splice Site c.525+1G>C p.? Pathogenic Komiyama (2014)
52307555 Intron 4 Splice Site c.525+1G>A p.? Pathogenic Gedge (2007)
Olivieri (2007)
Fontabla (2008)
Reported by ARUP Laboratories
52307555 Intron 4 Deletion c.525+1del p.? Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307556 Intron 4 Missense c.525+2T>G p.? VUS Richards-Yutz (2010)
52307556 Intron 4 Missense c.525+2T>C p.? VUS Reported by ARUP Laboratories
52307557 Intron 4 Splice Site c.525+3A>G p.? Pathogenic Gedge (2007)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307557 Intron 4 Splice Site c.525+3A>T p.? Pathogenic Xie (2007)
52307736 Intron 4 Splice Site c.526-22A>G p.? Benign Olivieri (2007)
Reported by ARUP Laboratories
Submitted by Edinburgh
52307751 Intron 4 Splice Site c.526-7C>G p.? Pathogenic Argyriou (2006)
52307755 Intron 4 Splice Site c.526-3C>G p.? Pathogenic Tørring (2014)
52307757 Intron 4 Missense c.526-1G>A p.? Pathogenic Reported by ARUP Laboratories
52307758 Exon 5 Missense c.526G>T p.Asp176Tyr Pathogenic Argyriou (2006)
52307758 Exon 5 Deletion c.526del p.Asp176Thrfs*82 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307768 Exon 5 Missense c.536A>T p.Asp179Val VUS Submitted by Edinburgh
52307768 Exon 5 Missense c.536A>C p.Asp179Ala Pathogenic Harrison (2003)
Ricard (2010)
52307772 Exon 5 Insertion c.540_541insA p.Asp181Argfs*44 Pathogenic Wehner (2006)
McDonald (2011)
Reported by ARUP Laboratories
52307775 Exon 5 Missense c.543C>T p.Asp181Asp Suspected Benign Reported by ARUP Laboratories
52307782 Exon 5 Deletion c.550del p.Thr184Glnfs*74 VUS Submitted by Edinburgh
52307795 Exon 5 Deletion c.563del p.Ser188* Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307799 Exon 5 Deletion c.567del p.Leu190Serfs*68 Pathogenic Fontabla (2008)
52307805 Exon 5 Deletion c.573del p.Phe192Serfs*66 Pathogenic Schulte (2005)
Reported by ARUP Laboratories
52307818 Exon 5 Missense c.586A>G p.Arg196Gly VUS Submitted by Edinburgh
52307822 Exon 5 Missense c.590C>T p.Thr197Ile Pathogenic Bossler (2006)
52307823 Exon 5 Missense c.591A>G p.Thr197Thr Suspected Benign Reported by ARUP Laboratories
52307825 Exon 5 Missense c.593T>A p.Val198Glu Pathogenic Chen (2013)
52307830 Exon 5 Missense c.598C>G p.Arg200Gly Pathogenic Komiyama (2014)
Submitted by Edinburgh
52307833 Exon 5 Missense c.601C>T p.Gln201* Pathogenic Richards-Yutz (2010)
McDonald (2011)
Reported by ARUP Laboratories
52307833 Exon 5 Missense c.601C>A p.Gln201Lys Pathogenic Tørring (2014)
52307834 Exon 5 Missense c.602A>G p.Gln201Arg Pathogenic Girerd (2010)
52307834 Exon 5 Missense c.602A>C p.Gln201Pro Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307843 Exon 5 Missense c.611T>G p.Leu204Trp Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52307846 Exon 5 Missense c.614T>G p.Val205Gly Pathogenic Komiyama (2014)
Reported by ARUP Laboratories
52307849 Exon 5 Missense c.617A>G p.Glu206Gly Pathogenic Olivieri (2007)
52307849 Exon 5 Deletion c.617_625del p.Glu206_Val208del Pathogenic Canzonieri (2014)
52307852 Exon 5 Deletion c.620del p.Cys207Leufs*51 Pathogenic Reported by ARUP Laboratories
52307855 Exon 5 Duplication c.623_624dup p.Gly209Trpfs*50 Pathogenic Letteoer (2005)
52307857 Exon 5 Spice Site c.625G>C p.Gly209Arg VUS Richards-Yutz (2010)
52307858 Intron 5 Missense c.625+1G>C p.? VUS Bereczky (2015)
52307858 Intron 5 Delins c.625+1delinsTTT p.? VUS Submitted by Edinburgh
52307861 Intron 5 Missense c.625+4A>G p.? VUS Submitted by Edinburgh
52307864 Intron 5 Deletion c.625+7_625+17del p.? VUS Submitted by Edinburgh
52307898 Intron 5 Missense c.625+41C>T p.? VUS Submitted by Edinburgh
52307898 Intron 5 Missense c.625+41C>G p.? VUS Submitted by Edinburgh
52307913 Intron 5 Missense c.625+56G>A p.? Benign Reported by ARUP Laboratories
52307965 Intron 5 Insertion c.625+108_625+109insATTCCATA p.? Benign Reported by ARUP Laboratories
52307967 Intron 5 Deletion c.625+110_625+130del none Benign Reported by ARUP Laboratories
52308003 Intron 5 Missense c.625+146C>T p.? Benign Reported by ARUP Laboratories
52308021 Intron 5 Missense c.625+164T>C p.? Benign Reported by ARUP Laboratories
52308022 Intron 5 Missense c.625+165T>C p.? Benign Reported by ARUP Laboratories
52308047 Intron 5 Missense c.626-176G>A p.? Benign Reported by ARUP Laboratories
52308145 Intron 5 Missense c.626-78C>T p.? Benign Reported by ARUP Laboratories
52308163 Intron 5 Delins c.626-60_626-59delinsT p.? Benign Lenato (2006)
Reported by ARUP Laboratories
52308163 Intron 5 Deletion c.626-58_626-60del p.? Benign Reported by ARUP Laboratories
52308164 Intron 5 Insertion c.626-59_626-58insT p.? Benign Reported by ARUP Laboratories
52308164 Intron 5 Deletion c.626-59del p.? VUS Gedge (2007)
52308166 Intron 5 Missense c.626-57dup p.? VUS Olivieri (2007)
52308170 Intron 5 Missense c.626-53C>T p.? Benign Prigoda (2006)
Olivieri (2007)
Reported by ARUP Laboratories
52308193 Intron 5 Missense c.626-30G>A p.? Benign Reported by ARUP Laboratories
52308214 Intron 5 Deletion c.626-9_629del p.? Pathogenic Argyriou (2006)
52308219 Intron 5 Deletion c.626-5_634del p.? Pathogenic Letteoer (2005)
52308220 Intron 5 Splice Site c.626-3C>G p.? Pathogenic Giordano (2006)
Lenato (2006)
McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
52308229 Exon 6 Missense c.632G>T p.Gly211Val VUS Submitted by Edinburgh
52308229 Exon 6 Missense c.632G>A p.Gly211Asp Pathogenic Harrison (2003)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
Submitted by Edinburgh
52308236 Exon 6 Missense c.639T>G p.Tyr213* Pathogenic Reported by ARUP Laboratories
52308238 Exon 6 Deletion c.641del p.Gly214Alafs*44 Pathogenic Richards-Yutz (2010)
Reported by ARUP Laboratories
52308240 Exon 6 Missense c.643G>T p.Glu215* Pending Classification Richards-Yutz (2010)
Submitted by Edinburgh
52308240 Exon 6 Missense c.643G>A p.Glu215Lys Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Reported by ARUP Laboratories
52308244 Exon 6 Missense c.647T>G p.Val216Gly Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
52308246 Exon 6 Missense c.649T>G p.Trp217Gly Pathogenic Richards-Yutz (2010)
52308247 Exon 6 Missense c.650G>A p.Trp217* Pathogenic Olivieri (2007)
52308248 Exon 6 Missense c.651G>A p.Trp217* Pathogenic Bossler (2006)
Reported by ARUP Laboratories
52308250 Exon 6 Delins c.653_654delinsCC p.Arg218Pro Pathogenic Chen (2013)
52308253 Exon 6 Missense c.656G>A p.Gly219Asp Pathogenic Bossler (2006)
Lenato (2006)
52308258 Exon 6 Missense c.661T>G p.Trp221Gly Suspected Pathogenic Reported by ARUP Laboratories
52308259 Exon 6 Missense c.662G>A p.Trp221* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52308260 Exon 6 Missense c.663G>A p.Trp221* Pathogenic Fontabla (2008)
52308261 Exon 6 Deletion c.664_668del p.His222* Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52308263 Exon 6 Missense c.666C>T p.His222His VUS Prigoda (2006)
52308264 Exon 6 Missense c.667G>C p.Gly223Arg Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52308267 Exon 6 Missense c.670G>A p.Glu224Lys Pathogenic Lesca (2006)
Reported by ARUP Laboratories
52308270 Exoin 6 Duplication c.673dup p.Ser225Lysfs*12 VUS Richards-Yutz (2010)
52308270 Exon 6 Missense c.673A>T p.Ser225Cys Pathogenic Pousada (2014)
52308270 Exon 6 Deletion c.673_674del p.Ser225Cysfs*11 Pathogenic Fontabla (2008)
Submitted by Edinburgh
52308273 Exon 6 Missense c.676G>C p.Val226Leu Pathogenic Tørring (2014)
52308274 Exon 6 Missense c.677T>A p.Val226Glu Pathogenic Richards-Yutz (2010)
52308279 Exon 6 Deletion c.682del p.Val228Serfs*30 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52308280 Exon 6 Missense c.683T>A p.Val228Asp Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52308283 Exon 6 Missense c.686A>T p.Lys229Met Pathogenic Giordano (2006)
Lenato (2006)
52308283 Exon 6 Missense c.686A>G p.Lys229Arg Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52308293 Exon 6 Deletion c.696_698del p.Ser233del Pathogenic Johnson (1995)
Berg (1997)
Abdalla (2000)
Bayrak-Toydemir (2004)
Lesca (2004)
Bossler (2006)
McDonald (2011)
Reported by ARUP Laboratories
52308295 Exon 6 Missense c.698C>T p.Ser233Leu Pathogenic Argyriou (2006)
McDonald (2009)McDonald (2011)

Reported by ARUP Laboratories
Submitted by Edinburgh
52308295 Exon 6 Missense c.698C>A p.Ser233* Pathogenic Brakensiek (2008)
52308301 Exon 6 Deletion c.704del p.Asp235Valfs*23 Pathogenic LBayrak-Toydemir (2004)
esca (2004)
52308306 Exon 6 Missense c.709C>T p.Gln237* Pathogenic Lesca (2006)
52308306 Exon 6 Missense c.709C>A p.Gln237Lys VUS Bossler (2006)
52308313 Exon 6 Missense c.716G>A p.Trp239* Pathogenic Prigoda (2006)
52308321 Exon 6 Missense c.724G>A p.Glu242Lys VUS Submitted by Edinburgh
52308340 Exon 6 Deletion c.743_744del p.Thr248Serfs*143 Pathogenic Wehner (2006)
Richards-Yutz (2010)
52308344 Exon 6 Missense c.747G>A p.Val249Val Benign Lenato (2006)
Reported by ARUP Laboratories
Submitted by Edinburgh
52308355 Exon 6 Missense c.758A>G p.His253Arg VUS Reported by ARUP Laboratories
52308357 Exon 6 Deletion c.760_762del p.Asp254del Pathogenic Trembath (2001)
McDonald (2011)
Reported by ARUP Laboratories
52308357 Exon 6 Deletion c.759_761del p.Asp254del Pathogenic Bayrak-Toydemir (2004)
Gedge (2007)
Reported by ARUP Laboratories
52308369 Exon 6 Splice Site c.772G>A p.Gly258Ser VUS Richards-Yutz (2010)
52308372 Intron 6 Duplication c.772+3_772+4dup p.? Pathogenic Komiyama (2014)
52308374 Intron 6 Missense c.772+5G>A p.? Pathogenic Reported by ARUP Laboratories
52308390 Intron 6 Splice Site c.772+21T>A p.? Suspected Pathogenic Lesca (2006)
52308393 Intron 6 Missense c.772+24C>T p.? Benign Reported by ARUP Laboratories
52308396 Intron 6 Missense c.772+27G>C p.? VUS Yu (2013)
52308950 Intron 6 Insertion c.773-59_773-58insT p.? VUS Gedge (2007)
52309006 Intron 6 Missense c.773-3C>G p.? VUS Gedge (2007)
Reported by ARUP Laboratories
52309007 Intron 6 Splice Site c.773-2A>G p.? Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Fontabla (2008)
52309007 Intron 6 Splice Site c.773-2A>C p.? Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52309014 Exon 7 Missense c.778A>C p.Ile260Leu Pathogenic Bossler (2006)
52309029 Exon 7 Missense c.793A>C p.Thr265Pro Pathogenic Argyriou (2006)
52309042 Exon 7 Deletion c.806_818del p.Ser269Cysfs*28 VUS Submitted by Edinburgh
52309043 Exon 7 Deletion c.807_810del p.Ser270Argfs*30 VUS Richards-Yutz (2010)
52309047 Exon 7 Deletion c.811_823del p.Thr271Serfs*26 Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
52309048 Exon 7 Missense c.812C>A p.Thr271Lys VUS Gedge (2007)
Reported by ARUP Laboratories
52309053 Exon 7 Missense c.817C>T p.Leu273Leu Benign Reported by ARUP Laboratories
52309054 Exon 7 Missense c.818T>C p.Leu273Pro Pathogenic Abdalla (2005)
Westermann (2011)
Reported by ARUP Laboratories
52309057 Exon 7 Duplication c.821_824dup p.Ile276Alafs*117 Pathogenic Olivieri (2006)
Olivieri (2007)
52309058 Exon 7 Missense c.822G>A p.Trp274* Pathogenic Richards-Yutz (2010)
McDonald (2011)
Reported by ARUP Laboratories
52309063 Exon 7 Missense c.827T>C p.Ile276Thr Pathogenic Abdalla (2005)
Submitted by Edinburgh
52309065 Exon 7 Duplication c.829dup p.Thr277Asnfs*115 VUS Submitted by Edinburgh
52309066 Exon 7 Missense c.830C>A p.Thr277Lys VUS Richards-Yutz (2010)
52309067 Exon 7 Missense c.831G>A p.Thr277Thr VUS Nishida (2012)
52309069 Exon 7 Duplication c.833_853dup p.His278_Ser284dup VUS Submitted by Edinburgh
52309071 Exon 7 Duplication c.835_837dup p.Tyr279dup Suspected Pathogenic Reported by ARUP Laboratories
52309074 Exon 7 Missense c.838C>G p.His280Asp Pathogenic Lesca (2006)
52309075 Exon 7 Missense c.839A>G p.His280Arg Pathogenic Richards-Yutz (2010)
Nishida (2012)
Komiyama (2014)
52309078 Exon 7 Deletion c.842del p.Glu281Glyfs*20 Pathogenic Schulte (2005)
52309087 Exon 7 Missense c.851C>T p.Ser284Phe Pathogenic Abdalla (2005)
52309089 Exon 7 Duplication c.853dup p.Leu285Profs*107 Pathogenic Olivieri (2007)
52309089 Exon 7 Missense c.853C>T p.Leu285Phe Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
McDonald (2011)
Reported by ARUP Laboratories
52309090 Exon 7 Missense c.854T>C p.Leu285Pro Pathogenic Chida (2012)
52309094 Exon 7 Missense c.858C>G p.Tyr286* Pathogenic Lesca (2006)
52309094 Exon 7 Missense c.858C>A p.Tyr286* Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Letteoer (2005)
Giordano (2006)
Lenato (2006)
Olivieri (2007)
52309099 Exon 7 Deletion c.863_909del p.Phe288Cysfs*88 Pathogenic Reported by ARUP Laboratories
52309100 Exon 7 Duplication c.864dup p.Leu289Serfs*103 Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
52309102 Exon 7 Missense c.866T>C p.Leu289Pro Pathogenic Bossler (2006)
Reported by ARUP Laboratories
52309106 Exon 7 Deletion c.870del p.Arg219Aspfs*10 Pathogenic Reported by ARUP Laboratories
52309108 Exon 7 Deletion c.872_873del p.Arg291Thrfs*100 VUS Submitted by Edinburgh
52309110 Exon 7 Deletion c.874del p.Gln292Argfs*9 Pathogenic Tørring (2014)
52309110 Exon 7 Missense c.874C>T p.Gln292* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52309111 Exon 7 Missense c.875A>C p.Gln292Pro Pathogenic Schulte (2005)
Lesca (2006)
52309117 Exon 7 Missense c.881T>G p.Leu294Arg Pathogenic Richards-Yutz (2010)
Reported by ARUP Laboratories
52309126 Exon 7 Missense c.890A>G p.His297Arg Benign Fernandez-L (2006)
McDonald (2009)
Reported by ARUP Laboratories
52309141 Exon 7 Missense c.905T>G p.Leu302Arg Pathogenic Schulte (2005)
52309149 Exon 7 Missense c.913T>C p.Ser305Pro Pathogenic Abdalla (2005)
Reported by ARUP Laboratories
52309149 Exon 7 Deletion c.913del p.Ser305Profs*49 Pathogenic Assis (2007)
52309150 Exon 7 Missense c.914C>T p.Ser305Phe Pathogenic Gedge (2007)
Reported by ARUP Laboratories
52309152 Exon 7 Missense c.916G>C p.Ala306Pro Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52309153 Exon 7 Missense c.917C>A p.Ala306Glu Pathogenic Tørring (2014)
52309155 Exon 7 Missense c.919G>C p.Ala307Pro VUS Reported by ARUP Laboratories
52309157 Exon 7 Duplication c.921_927dup p.Leu310Metfs*84 Pathogenic Fontabla (2008)
52309160 Exon 7 Missense c.924C>A p.Cys308* Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Lenato (2006)
Olivieri (2007)
Reported by ARUP Laboratories
52309161 Exon 7 Missense c.925G>T p.Gly309Cys Pathogenic Lesca (2006)
52309161 Exon 7 Missense c.925G>A p.Gly309Ser Pathogenic Letteoer (2005)
Gedge (2007)
McDonald (2011)
Nishida (2012)
Reported by ARUP Laboratories
52309167 Exon 7 Missense c.931G>A p.Ala311Thr VUS McDonald (2009)
Reported by ARUP Laboratories
52309172 Exon 7 Missense c.936C>G p.His312Gln Pathogenic Fujiwara (2008)
Chida (2012)
52309176 Exon 7 Missense c.940C>T p.His314Tyr Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Schulte (2005)
Reported by ARUP Laboratories
52309177 Exon 7 Deletion c.941_951del p.His314Leufs*74 Pathogenic Tørring (2014)
52309186 Exon 7 Missense c.950T>C p.Ile317Thr Pathogenic Reported by ARUP Laboratories
52309186 Exon 7 Missense c.950T>A p.Ile317Asn VUS Submitted by Edinburgh
52309191 Exon 7 Missense c.955G>C p.Gly319Arg VUS Reported by ARUP Laboratories
52309192 Exon 7 Missense c.956G>A p.Gly319Asp Pathogenic Lesca (2006)
52309197 Exon 7 Missense c.961C>T p.Gln321* Pathogenic Letteoer (2005)
Giordano (2006)
Lenato (2006)
52309205 Exon 7 Duplication c.969dup p.Pro324Thrfs*68 Pathogenic Komiyama (2014)
52309208 Exon 7 Deletion c.972del p.Ala325Profs*29 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52309212 Exon 7 Missense c.976A>G p.Ile326Val Pathogenic Assis (2007)
52309218 Exon 7 Missense c.982C>T p.His328Tyr Pathogenic Gedge (2007)
Komiyama (2014)
Reported by ARUP Laboratories
52309219 Exon 7 Missense c.983A>C p.His328Pro Pathogenic Fernandez-L (2006)
52309220 Exon 7 Missense c.984C>A p.His328Gln VUS Richards-Yutz (2010)
Reported by ARUP Laboratories
52309221 Exon 7 Missense c.985C>A p.Arg329Ser VUS Reported by ARUP Laboratories
52309221 Exon 7 Missense c.985C>T p.Arg329Cys Suspected Pathogenic Reported by ARUP Laboratories
52309222 Exon 7 Missense c.986G>A p.Arg329His Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
52309224 Exon 7 Missense c.988G>T p.Asp330Tyr Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
Fontabla (2008)
52309224 Exon 7 Missense c.988G>C p.Asp330His Pathogenic Tørring (2014)
52309224 Exon 7 Missense c.988G>A p.Asp330Asn Pathogenic Letteoer (2005)
Lenato (2006)
Olivieri (2007)
52309227 Exon 7 Missense C.991_1044del p.Phe331_Asp348
del54bp
Pathogenic Tørring (2014)
52309228 Exon 7 Missense c.992T>C p.Phe331Ser Pathogenic Bossler (2006)
52309229 Exon 7 Missense c.993C>T p.Phe331Phe Suspected Benign Lenato (2006)
Reported by ARUP Laboratories
52309230 Exon 7 Insertion c.994_995insGACTTA p.Phe331_Lys332
insArgLeu
Pathogenic Reported by ARUP Laboratories
52309233 Exon 7 Missense c.997A>G p.Ser333Gly Pathogenic Schulte (2005)
52309234 Exon 7 Missense c.998G>T p.Ser333Ile Pathogenic Berg (1997)
Abdalla (2000)
McDonald (2000)
Abdalla (2003)
Bayrak-Toydemir (2004)
McDonald (2011)
Reported by ARUP Laboratories
52309234 Exon 7 Missense c.998G>A p.Ser333Asn Suspected Pathogenic Reported by ARUP Laboratories
52309236 Exon 7 Deletion c.1000del p.Arg334Alafs*20 Pathogenic Canzonieri (2014)
52309236 Exon 7 Delins c.1000_1005delinsG p.Arg334Glyfs*56 Pathogenic Bayrak-Toydemir (2004)
52309239 Exon 7 Missense c.1003A>C p.Asn335His Pathogenic Richards-Yutz (2010)
52309240 Exon 7 Missense c.1004A>G p.Asn335Ser VUS Reported by ARUP Laboratories
52309242 Exon 7 Missense c.1006G>T p.Val336Leu VUS Olivieri (2002)
52309243 Exon 7 Missense c.1007T>A p.Val336Glu VUS McDonald (2011)
Reported by ARUP Laboratories
52309246 Exon 7 Duplication c.1010dup p.Val338Glyfs*54 Pathogenic Reported by ARUP Laboratories
52309246 Exon 7 Missense c.1010T>C p.Leu337Pro Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52309246 Exon 7 Deletion c.1010del p.Leu337Argfs*17 Suspected Pathogenic Lesca (2006)
McDonald (2011)
Reported by ARUP Laboratories
52309249 Exon 7 Missense c.1013T>A p.Val338Asp Pathogenic Tørring (2014)
52309258 Exon 7 Missense c.1022A>T p.Asn341Ile Pathogenic Tørring (2014)
52309259 Exon 7 Missense c.1023C>G p.Asn341Lys Pathogenic Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
52309261 Exon 7 Missense c.1025T>C p.Leu342Pro VUS Richards-Yutz (2010)
Reported by ARUP Laboratories
52309263 Exon 7 Missense c.1027C>T p.Gln343* Pathogenic Reported by ARUP Laboratories
52309266 Exon 7 Missense c.1030T>C p.Cys344Arg Pathogenic Bayrak-Toydemir (2006)
Bossler (2006)
Gedge (2007)
Fontabla (2008)
McDonald (2009)
Reported by ARUP Laboratories
52309267 Exon 7 Missense c.1031G>T p.Cys344Phe Pathogenic Bayrak-Toydemir (2004)
Olivieri (2007)
52309267 Exon 7 Missense c.1031G>A p.Cys344Tyr Pathogenic Abdalla (2000)
Harrison (2003)
Bayrak-Toydemir (2004)
Schulte (2005)
Wehner (2006)
Gedge (2007)
Reported by ARUP Laboratories
52309269 Exon 7 Missense c.1033T>C p.Cys345Arg VUS Reported by ARUP Laboratories
52309270 Exon 7 Missense c.1034G>A p.Cys345Tyr VUS Reported by ARUP Laboratories
52309273 Exon 7 Deletion c.1037_1039del p.Ile346_Ala347
delinsThr
VUS Submitted by Edinburgh
52309275 Exon 7 Missense c.1039G>C p.Ala347Pro Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Ricard (2010)
52309276 Exon 7 Missense c.1040C>A p.Ala347Asp Pathogenic Richards-Yutz (2010)
Nishida (2012)
52309276 Exon 7 Deletion c.1040_1042del p.Ala347del Pathogenic Sankelo (2008)
52309278 Exon 7 Missense c.1042G>T p.Asp348Tyr VUS Reported by ARUP Laboratories
52309278 Exon 7 Deletion c.1042del p.Asp348Thrsf*6 Pathogenic Letteoer (2005)
52309279 Intron 7 Insertion c.1043_1048+1dup p.? Suspected Pathogenic Reported by ARUP Laboratories
52309282 Exon 7 Missense c.1046T>G p.Leu349Arg VUS McDonald (2011)
Reported by ARUP Laboratories
52309282 Exon 7 Missense c.1046T>C p.Leu349Pro Pathogenic Richards-Yutz (2010)
Tørring (2014)
52309284 Exon 7 Missense c.1048G>C p.Gly350Arg Pathogenic Letteoer (2005)
Gedge (2007)
McDonald (2011)
Reported by ARUP Laboratories
52309284 Exon 7 Missense c.1048G>A p.Gly350Ser Pathogenic Schulte (2005)
Olivieri (2007)
52309285 Intron 7 Missense c.1048+1G>C p.? Suspected Pathogenic Reported by ARUP Laboratories
52309285 Intron 7 Splice Site c.1048+1G>A p.? Pathogenic Lesca (2006)
52309289 Intron 7 Splice Site c.1048+5G>T p.? Pathogenic Fontabla (2008)
52309289 Intron 7 Missense c.1048+5G>A p.? Suspected Pathogenic Reported by ARUP Laboratories
52309339 Intron 7 Deletion c.1048+55_1048+58del p.? Benign Gedge (2007)
Reported by ARUP Laboratories
52309355 Intron 7 Missense c.1048+71T>A p.? Benign Reported by ARUP Laboratories
52309367 Intron 7 Missense c.1048+53G>T p.? Benign Reported by ARUP Laboratories
52309756 Intron 7 Missense c.1049-64C>T p.? Benign Reported by ARUP Laboratories
52309816 Intron 7 Deletion c.1049-4_1051del p.? VUS Submitted by Edinburgh
52309816 Intron 7 Delins c.1049-4_1049-2delinsCC p.? Pathogenic Lenato (2006)
52309819 Intron 7 Missense c.1049-1G>A p.? VUS Richards-Yutz (2010)
52309820 Exon 8 Large Deletion c.1049-?_1246+? p.? VUS McDonald (2011)
52309823 Exon 8 Missense c.1052T>C p.Leu351Pro VUS Reported by ARUP Laboratories
52309825 Exon 8 Missense c.1054G>C p.Ala352Pro Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
52309826 Exon 8 Missense c.1055C>A p.Ala352Asp Suspected Pathogenic Prigoda (2006)
McDonald (2011)
Reported by ARUP Laboratories
52309832 Exon 8 Missense c.1061T>A p.Met354Lys Pathogenic Wehner (2006)
52309832 Exon 8 Deletion c.1061_1068del p.Met354Thrfs*35 Pathogenic Letteoer (2005)
52309833 Exon 8 Duplication c.1062_1080dup p.Try361Alafs*37 Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)
52309840 Exon 8 Missense c.1069C>T p.Gln357* Pathogenic Abdalla (2005)
52309844 Exon 8 Deletion c.1073del p.Gly358Alafs*57 Pathogenic Letteoer (2005)
52309844 Exon 8 Duplication c.1073dup p.Ser359Glnfs*33 VUS Submitted by Edinburgh
52309854 Exon 8 Missense c.1083C>A p.Tyr361* Pathogenic Reported by ARUP Laboratories
52309863 Exon 8 Missense c.1092C>T p.Ile364Ile VUS Lenato (2006)
52309873 Exon 8 Deletion c.1102_1105del p.Pro368Glufs*46 Pathogenic Reported by ARUP Laboratories
52309878 Exon 8 Deletion c.1107_1108del p.Arg369Serfs*22 Pathogenic Letteoer (2005)
52309882 Exon 8 Missense c.1111G>A p.Gly371Ser Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52309883 Exon 8 Missense c.1112G>T p.Gly371Val VUS Gedge (2007)
Reported by ARUP Laboratories
52309883 Exon 8 Duplication c.1112dup p.Thr372Hisfs*20 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Lesca (2004)
Lesca (2006)
Ricard (2010)
52309886 Exon 8 Missense c.1115C>T p.Thr372Ile Pathogenic Lenato (2006)
Wehner (2006)
52309889 Exon 8 Deletion c.1118del p.Lys373Serfs*42 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52309891 Exon 8 Missense c.1120C>T p.Arg374Trp Pathogenic Berg (1997)
Kjeldsen (2001)
Abdalla (2003)
Harrison (2003)
Abdalla (2004)
Bayrak-Toydemir (2004)
Sanz-Rodriguez (2004)
Abdalla (2005)
Fernandez-L (2005)
Kuehl (2005)
Letteoer (2005)
Fernandez-L (2006)
Lenato (2006)
Lesca (2006)
Wehner (2006)
Gedge (2007)
Olivieri (2007)
Ricard (2010)
McDonald (2011)
Nishida (2012)
Canzonieri (2014)
Reported by ARUP Laboratories
52309891 Exon 8 Deletion c.1120_1137 p.Arg374_Glu379del Pathogenic Letteoer (2005)
52309891 Exon 8 Insertion c.1120_1121insCACGAGCAC p.Lys373_Arg374
insProArgAla
VUS Kjeldsen (2005)
52309892 Exon 8 Missense c.1121G>A p.Arg374Gln Pathogenic Abdalla (2003)
Harrison (2003)
Bayrak-Toydemir (2004)
Lesca (2004)Letteoer (2005)
Gedge (2007)
Olivieri (2007)
Fontabla (2008)
Ricard (2010)
McDonald (2011)
Chen (2013)
Reported by ARUP Laboratories
Submitted by Edinburgh
52309893 Exon 8 Duplication c.1122_1125dup p.Met376Valfs*17 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52309894 Exon 8 Missense c.1123T>C p.Tyr375His Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Reported by ARUP Laboratories
52309895 Exon 8 Missense c.1124A>G p.Tyr375Cys Pathogenic Chen (2013)
52309897 Exon 8 Missense c.1126A>G p.Met376Val Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Gedge (2007)
Olivieri (2007)
Reported by ARUP Laboratories
52309898 Exon 8 Missense c.1127T>G p.Met376Arg Pathogenic Johnson (1996)
Berg (1997)
Bayrak-Toydemir (2004)
Wehner (2006)
McDonald (2011)
Reported by ARUP Laboratories
52309898 Exon 8 Missense c.1127T>A p.Met376Lys Pathogenic Olivieri (2006)
Olivieri (2007)
52309898 Exon 8 Missense c.1127T>C p.Met376Thr Pathogenic Fernandez-L (2006)
52309900 Exon 8 Missense c.1129G>A p.Ala377Thr Pathogenic Fernandez-L (2006)
52309901 Exon 8 Missense c.1130C>T p.Ala37Val VUS Reported by ARUP Laboratories
52309902 Exon 8 Missense c.1131A>G p.Ala377Ala Suspected Benign Reported by ARUP Laboratories
52309903 Exon 8 Missense c.1132C>T p.Pro378Ser Suspected Pathogenic Richards-Yutz (2010)
McDonald (2011)
Komiyama (2014)
Reported by ARUP Laboratories
Submitted by Edinburgh
52309904 Exon 8 Missense c.1133C>T p.Pro378Leu VUS Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2007)Reported by ARUP Laboratories
Submitted by Edinburgh
52309904 Exon 8 Missense c.1133C>A p.Pro378His Pathogenic Abdalla (2005)
52309906 Exon 8 Missense c.1135G>A p.Glu379Lys Pathogenic Bayrak-Toydemir (2004)
Brusgaard (2004)
Lesca (2004)
Kuehl (2005)
Lenato (2006)
Brakensiek (2008)
Fontabla (2008)
Nishida (2012)
Reported by ARUP Laboratories
Submitted by Edinburgh
52309910 Exon 8 Missense c.1139T>G p.Val380Gly Pathogenic Letteoer (2005)
Olivieri (2006)
Olivieri (2007)
52309913 Exon 8 Missense c.1142T>C p.Leu381Pro Pathogenic Fujiwara (2008)
Ricard (2010)
Chida (2012)
52309915 Exon 8 Missense c.1144G>C p.Asp382His Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52309924 Exon 8 Duplication c.1153_1157dup p.Thr387Serfs*30 Pathogenic Richards-Yutz (2010)
Reported by ARUP Laboratories
52309927 Exon 8 Missense c.1156C>T p.Arg386Cys VUS Ricard (2010)
52309928 Exon 8 Missense c.1157G>A p.Arg386His Pathogenic Abdalla (2005)
52309932 Exon 8 Missense c.1161G>A p.Thr387Thr Suspected Benign Reported by ARUP Laboratories
52309942 Exon 8 Missense c.1171G>T p.Glu391* Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
52309957 Exon 8 Missense c.1186A>G p.Thr396Ala VUS Pousada (2014)
52309958 Exon 8 Missense c.1187C>A p.Thr396Asn Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52309960 Exon 8 Missense c.1189G>A p.Asp397Asn Pathogenic Letteoer (2005)
52309961 Exon 8 Missense c.1190A>G p.Asp397Gly Pathogenic Lesca (2004)
52309961 Exon 8 Missense c.1190A>T p.Asp397Val VUS Submitted by Edinburgh
52309964 Exon 8 Missense c.1193T>A p.Ile398Asn Pathogenic Kjeldsen (2001)
Bayrak-Toydemir (2004)
52309966 Exon 8 Missense c.1195T>C p.Trp399Arg Pathogenic Chen (2013)
52309966 Exon 8 Missense c.1195T>G p.Trp399Gly Suspected Pathogenic Reported by ARUP Laboratories
52309967 Exon 8 Missense c.1196G>C p.Trp399Ser Pathogenic Harrison (2003)
Bayrak-Toydemir (2004)
52309969 Exon 8 Missense c.1198G>A p.Ala400Thr VUS Richards-Yutz (2010)
52309970 Exon 8 Missense c.1199C>A p.Ala400Asp Pathogenic Olivieri (2002)
Bayrak-Toydemir (2004)
Olivieri (2006)
Olivieri (2007)
Canzonieri (2014)
Reported by ARUP Laboratories
52309975 Exon 8 Missense c.1204G>A p.Gly402Ser Pathogenic Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
Assis (2007)
Reported by ARUP Laboratories
52309976 Exon 8 Missense c.1205G>A p.Gly402Asp Pathogenic Fontabla (2008)
52309979 Exon 8 Missense c.1208T>C p.Leu403Pro Pathogenic Argyriou (2006)
Giordano (2006)
Lenato (2006)
52309981 Exon 8 Missense c.1210G>T p.Val404Leu Benign Reported by ARUP Laboratories
52309985 Exon 8 Missense c.1214T>A p.Leu405Gln Suspected Pathogenic Reported by ARUP Laboratories
52309986 Exon 8 Deletion c.1215del p.Trp406Glyfs*9 Pathogenic McDonald (2011)
Submitted by Edinburgh
Reported by ARUP Laboratories
52309989 Exon 8 Missense c.1218G>C p.Trp406Cys Pathogenic Letteoer (2005)
52309989 Exon 8 Missense c.1218G>T p.Try406Cys VUS Lenato (2006)
52309990 Exon 8 Missense c.1219G>A p.Glu407Lys Pathogenic Reported by ARUP Laboratories
52309991 Exon 8 Missense c.1220A>G p.Glu407Gly Pathogenic Gedge (2007)
Reported by ARUP Laboratories
52309992 Exon 8 Missense c.1221G>T p.Glu407Asp Pathogenic Abdalla (2000)
Abdalla (2003)
Bayrak-Toydemir (2004)
Kuehl (2005)
Olivieri (2007)
Brakensiek (2008)
Canzonieri (2014)
Reported by ARUP Laboratories
52310002 Exon 8 Missense c.1231C>A p.Arg411Arg VUS Abdalla (2003)
52310002 Exon 8 Missense c.1231C>T p.Arg411Trp Pathogenic Trembath (2001)
Abdalla (2003)
Bayrak-Toydemir (2004)
Lesca (2004)
Zhang (2004)
Abdalla (2005)
Kuehl (2005)
Letteoer (2005)
Schulte (2005)
Lenato (2006)
Wehner (2006)
Sankelo (2008)
Ricard (2010)
Reported by ARUP Laboratories
Submitted by Edinburgh
52310003 Exon 8 Missense c.1232G>C p.Arg411Pro Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Gedge (2007)
Ricard (2010)
Submitted by Edinburgh
52310003 Exon 8 Missense c.1232G>A p.Arg411Gln Pathogenic Johnson (1996)
Berg (1997)
Lin (2001)
Abdalla (2003)
Harrison (2003)
Bayrak-Toydemir (2004)
Brusgaard (2004)
Lesca (2004)
Schulte (2005)
Lenato (2006)
Olivieri (2006)
Gedge (2007)
Olivieri (2007)
Fontabla (2008)
Ricard (2010)
McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
52310005 Exon 8 Missense c.1234_1235delinsCA p.Thr412His VUS Reported by ARUP Laboratories
52310017 Exon 8 Splice Site c.1246G>A p.Gly416Ser Pathogenic Argyriou (2006)
Lesca (2006)
McDonald (2011)
Reported by ARUP Laboratories
52310018 Intron 8 Splice Site c.1246+1G>A p.? Pathogenic Bossler (2006)
Reported by ARUP Laboratories
52310019 Intron 8 Splice Site c.1246+2T>C p.? VUS Richards-Yutz (2010)
52310026 Intron 8 Missense c.1246+9C>T p.? VUS Reported by ARUP Laboratories
52310036 Intron 8 Missense c.1246+19C>T p.? VUS Reported by ARUP Laboratories
52312683 Intron 8 Missense c.1247-86_1247-84delinsTAT p.? Benign Reported by ARUP Laboratories
52312754 Intron 8 Splice Site c.1247-15A>G p.? Benign Reported by ARUP Laboratories
Submitted by Edinburgh
52312769 Exon 9 Large Deletion c.1247_1509del p.Gly416Valfs*31 VUS Prigoda (2006)
52312771 Exon 9 Missense c.1249A>T p.Ile417Phe Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52312772 Exon 9 Deletion c.1250_1269del p.Ile417Thrfs*4 VUS Submitted by Edinburgh
52312783 Exon 9 Missense c.1261T>G p.Tyr421Asp Pathogenic Fontabla (2008)
52312791 Exon 9 Deletion c.1269del p.Phe425Serfs*14 Pathogenic Wehner (2006)
52312792 Exon 9 Deletion c.1270_1290del p.Pro424_Pro430
del21
VUS Brakensiek (2008)
52312792 Exon 9 Missense c.1270C>A p.Pro424Thr Pathogenic Berg (1997)
Bayrak-Toydemir (2004)
Fujiwara (2008)
Chida (2012)
52312792 Exon 9 Missense c.1270C>T p.Pro424Ser Pathogenic Abdalla (2005)
52312793 Exon 9 Missense c.1271C>A p.Pro424His VUS Submitted by Edinburgh
52312793 Exon 9 Missense c.1271C>G p.Pro424Arg Pathogenic Richards-Yutz (2010)
52312793 Exon 9 Missense c.1271C>T p.Pro424Leu Pathogenic Letteoer (2005)
Jia  (2012)
Komiyama (2014)
Reported by ARUP Laboratories
52312795 Exon 9 Missense c.1273T>C p.Phe425Leu Pathogenic Reported by ARUP Laboratories
52312795 Exon 9 Missense c.1273T>G p.Phe425Val Pathogenic Kuehl (2005)
52312796 Exon 9 Deletion c.1274_1276del p.Phe425del Pathogenic Kuehl (2005)
52312797 Exon 9 Missense c.1275C>G p.Phe425Leu Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
Lenato (2006)
52312799 Exon 9 Missense c.1277A>G p.Tyr426Cys Pathogenic Bossler (2006)
Nishida (2012)
52312802 Exon 9 Missense c.1280A>T p.Asp427Val Pathogenic Lenato (2006)
Lesca (2006)
Montani(2009)
Girerd (2010)
52312819 Exon 9 Missense c.1297C>T p.Pro433Ser Pathogenic Letteoer (2005)
52312820 Exon 9 Missense c.1298C>A p.Pro433His VUS Submitted by Edinburgh
52312820 Exon 9 Missense c.1298C>G p.Pro433Arg Pathogenic Bossler (2006)
52312821 Exon 9 Deletion c.1299del p.Ser434Alafs*5 Pathogenic Abdalla (2003)
Bayrak-Toydemir (2004)
Canzonieri (2014)
52312824 Exon 9 Delins c.1302_1303delinsA p.Ser434Argfs*5 Pathogenic Argyriou (2006)
52312831 Exon 9 Deletion c.1309delG p.Asp437Thrfs*2 Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52312832 Exon 9 Missense c.1310A>G p.Asp437Gly Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52312835 Exon 9 Missense c.1313T>C p.Met438Thr Pathogenic Letteoer (2005)
Submitted by Edinburgh
52312835 Exon 9 Missense c.1313T>G p.Met438Arg Suspected Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52312837 Exon 9 Missense c.1315A>T p.Lys439* Pathogenic Reported by ARUP Laboratories
52312840 Exon 9 Deletion c.1318_1320del p.Lys440del Pathogenic Bossler (2006)
Reported by ARUP Laboratories
52312843 Exon 9 Missense c.1321G>A p.Val441Met Pathogenic Abdalla (2005)
Lenato (2006)
52312846 Exon 9 Deletion c.1324_1326del p.Val442del Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52312846 Exon 9 Missense c.1324G>A p.Val442Met Pathogenic Girerd (2010)
52312847 Exon 9 Missense c.1325T>C p.Val442Ala Pathogenic Brakensiek (2008)
Reported by ARUP Laboratories
52312853 Exon 9 Duplication c.1331_1332dup p.Asp445Trpfs*21 Pathogenic Reported by ARUP Laboratories
52312857 Exon 9 Missense c.1335T>C p.Asp445Asp Suspected Benign Reported by ARUP Laboratories
52312858 Exon 9 Missense c.1336C>T p.Gln446* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52312867 Exon 9 Missense c.1345C>A p.Pro449Thr Pathogenic Fontabla (2008)
52312867 Exon 9 Missense c.1345C>T p.Pro449Ser Pathogenic Richards-Yutz (2010)
Reported by ARUP Laboratories
52312868 Exon 9 Missense c.1346C>T p.Pro449Leu Pathogenic Wehner (2006)
52312869 Exon 9 Duplication c.1347dup p.Thr450Hisfs*4 Pathogenic Reported by ARUP Laboratories
52312870 Exon 9 Missense c.1348A>G p.Thr450Ala VUS Reported by ARUP Laboratories
52312876 Exon 9 Deletion c.1354_1355del p.Pro452* Pathogenic Reported by ARUP Laboratories
52312877 Exon 9 Missense c.1355C>T p.Pro452Leu Pathogenic Abdalla (2005)
McDonald (2009)
McDonald (2011)
Reported by ARUP Laboratories
Submitted by Edinburgh
52312882 Exon 9 Missense c.1360C>T p.Arg454Trp VUS Ricard (2010)
52312883 Exon 9 Deletion c.1361_1375del p.Arg454_Asp458del VUS Reported by ARUP Laboratories
52312883 Exon 9 Missense c.1361G>A p.Arg454Gln VUS Reported by ARUP Laboratories
52312899 Exon 9 Missense c.1377G>A p.Pro459Pro VUS Reported by ARUP Laboratories
52312900 Intron 9 Splice Site c.1377+1G>A p.? Pathogenic Kuehl (2005)
McDonald (2011)
Reported by ARUP Laboratories
52312901 Intron 9 Splice Site c.1377+2T>G p.? VUS Lenato (2006)
52312944 Intron 9 Missense c.1377+45T>C p.? Benign Gedge (2007)
Reported by ARUP Laboratories
52312964 Intron 9 Missense c.1377+65A>G p.? Benign Simon (2006)
Gedge (2007)
Reported by ARUP Laboratories
52312987 Intron 9 Missense c.1377+88G>A p.? Benign Reported by ARUP Laboratories
52314388 Intron 9 Missense c.1378-155T>G p.? Benign Reported by ARUP Laboratories
52314481 Intron 9 Missense c.1378-62C>A p.? Benign Reported by ARUP Laboratories
52314494 Intron 9 Missense c.1378-49C>T p.? Benign Reported by ARUP Laboratories
52314513 Intron 9 Splice Site c.1378-30T>C p.? Benign Reported by ARUP Laboratories
Submitted by Edinburgh
52314541 Intron 9 Splice Site c.1378-2A>G p.? Pathogenic Wehner (2006)
52314542 Intron 9 Splice Site c.1378-1G>T p.? Pathogenic Fontabla (2008)
52314543 Exon 10 Large Deletion c.1378-?_1512+? p.? VUS McDonald (2011)
52314543 Exon 10 Large Deletion c.1378_1509del p.Val460* Pending Classification Prigoda (2006)
Richards-Yutz (2010)
52314550 Exon 10 Missense c.1385C>G p.Ser462* Pathogenic Abdalla (2004)
Olivieri (2007)
52314553 Exon 10 Deletion c.1388del p.Gly463Alafs*2 Pathogenic Girerd (2010)
Eyries (2012)
52314555 Exon 10 Deletion c.1390del p.Leu464* Pathogenic Eyries (2012)
52314561 Exon 10 Missense c.1396C>T p.Gln466* Pathogenic McDonald (2011)
Reported by ARUP Laboratories
52314570 Exon 10 Missense c.1405C>T p.Arg469Trp VUS Fontabla (2008)
Reported by ARUP Laboratories
52314573 Exon 10 Missense c.1408G>T p.Glu470* Pathogenic Letteoer (2005)
52314576 Exon 10 Missense c.1411T>C p.Cys471Arg VUS Reported by ARUP Laboratories
52314578 Exon 10 Missense c.1413C>A p.Cys471* Pathogenic Bossler (2006)
Nishida (2012)
Reported by ARUP Laboratories
52314579 Exon 10 Deletion c.1414_1419del p.Trp472_Tyr473del VUS Submitted by Edinburgh
52314592 Exon 10 Missense c.1427C>T p.Pro476Leu VUS Reported by ARUP Laboratories
52314593 Exon 10 Duplication c.1428dup p.Ser477Leufs*17 Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52314598 Exon 10 Missense c.1433C>A p.Ala478Asp Pathogenic Chida (2012)
52314598 Exon 10 Missense c.1433C>T p.Ala478Val VUS Reported by ARUP Laboratories
52314600 Exon 10 Missense 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)
Fontabla (2008)
McDonald (2011)
Chen (2013)
Canzonieri (2014)
Komiyama (2014)
Reported by ARUP Laboratories
Submitted by Edinburgh
52314601 Exon 10 Deletion c.1436del p.Arg479Hisfs*23 VUS Richards-Yutz (2010)
52314601 Exon 10 Missense c.1436G>A p.Arg479Gln Pathogenic Bayrak-Toydemir (2006)
Lesca (2006)
Gedge (2007)
Fujiwara (2008)
Ricard (2010)
McDonald (2011)
Chida (2012)
Reported by ARUP Laboratories
Submitted by Edinburgh
52314601 Exon 10 Missense c.1436G>C p.Arg479Pro Pathogenic Richards-Yutz (2010)
Reported by ARUP Laboratories
52314601 Exon 10 Missense c.1436G>T p.Arg479Leu Pathogenic Bayrak-Toydemir (2004)
Lesca (2004)
52314603 Exon 10 Missense c.1438C>T p.Leu480Phe Pathogenic Olivieri (2007)
Reported by ARUP Laboratories
52314604 Exon 10 Deletion c.1439_1506del VUS Shoukier (2008)
52314610 Exon 10 Missense c.1445C>A p.Ala482Glu VUS Olivieri (2007)
McDonald (2011)
Reported by ARUP Laboratories
52314610 Exon 10 Missense c.1445C>T p.Ala482Val Benign D'Abronzo (1999)
Bayrak-Toydemir (2004)
Lesca (2004)
Schulte (2005)
McDonald (2009)
Ricard (2010)
Submitted by Edinburgh
Reported by ARUP Laboratories
52314610 Exon 10 Missense c.1450C>G p.Arg484Gly Pathogenic Jones (2014)
52314610 Exon 10 Missense c.1450C>T p.Arg484Trp Pathogenic Trembath (2001)
Bayrak-Toydemir (2004)
Lesca (2004)
Letteoer (2005)
Lenato (2006)
Olivieri (2006)
Olivieri (2007)
Reported by ARUP Laboratories
Submitted by Edinburgh
52314615 Exon 10 Delins c.1450delinsTG p.Arg484Trpfs*10 Pathogenic Abdalla (2004)
52314616 Exon 10 Missense c.1451G>A p.Arg484Gln Pathogenic Olivieri (2007)
Fujiwara (2008)
Ricard (2010)
Chida (2012)
Chen (2013)
Reported by ARUP Laboratories
52314616 Exon 10 Missense c.1451G>T p.Arg484Leu Pathogenic Brakensiek (2008)
52314617 Exon 10 Missense c.1452G>A p.Arg484Arg VUS Prigoda (2006)
52314618 Exon 10 Missense c.1453A>T p.Ile485Phe VUS Ricard (2010)
52314618 Exon 10 Duplication c.1453dup p.Ile484Asnfs*9 VUS Bossler (2006)
52314619 Exon 10 Missense c.1454T>A p.Ile485Asn VUS Submitted by Edinburgh
52314621 Exon 10 Missense C.1456A>G p.Lys486Glu VUS Richards-Yutz (2010)
52314625 Exon 10 Deletion c.1460_1462del p.Lys487del VUS Gedge (2007)
Reported by ARUP Laboratories
52314625 Exon 10 Missense c.1460A>C p.Lys487Thr Pathogenic Harrison (2003)
Bayrak-Toydemir (2004)
52314633 Exon 10 Missense c.1468C>T p.Gln490* Pathogenic Trembath (2001)
Bayrak-Toydemir (2004)
El-Harith (2006)
Lenato (2006)
52314640 Exon 10 Missense c.1475T>A p.Ile492Asn Pathogenic Kjeldsen (2005)
52314722 3'UTR Missense c.*39G>A p.? Benign Reported by ARUP Laboratories
52314722 3'UTR Deletion c.*45del none Suspected Benign Reported by ARUP Laboratories
52314735 3'UTR Missense c.*58G>A p.? Benign Gedge (2007)
Reported by ARUP Laboratories
52314787 3'UTR Missense c.*110G>A p.? Benign Reported by ARUP Laboratories
52314796 3'UTR Missense c.*119C>T p.? Benign Reported by ARUP Laboratories
52314809 3'UTR Missense c.*132G>A p.? Benign Reported by ARUP Laboratories