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


375 variants found

( *Independent Observations )

Genomic Position Location Mutation
Type
Nucleotide
Change
Protein
Change
Classification Ind * Obs References Comments
52306216 Intron 1 Intronic SNV c.-34C>T Benign 3 Lesca (2004)
ARUP Laboratories
52306221 Intron 1 Intronic SNV c.-38C>T Benign 4 Abdalla (2003)
Lenato (2006)
Simon (2006)
ARUP Laboratories
52306289 Exon 2 Deletion/Frameshift c.31_50del20bp p.Leu11fs Pathogenic 1 ARUP Laboratories
52306295 Exon 2 Deletion/Frameshift c.37delC p.Leu13fs Pathogenic 3 Trembath (2001)
Harrison (2003)
Lesca (2004)
52306308 Exon 2 Deletion/Frameshift c.50_53delTGGT p.Leu17fs Pathogenic 1 Olivieri (2007)
52306308 Exon 2 Insertion/Frameshift c.50-51insT p.Leu17fs Pathogenic 1 ARUP Laboratories
52306329 Intron 2 Intronic SNV/Splice Site c.61+10G>A 2 Trembath (2001)
Lesca (2004)
 
52306341 Intron 2 Intronic SNV c.61+22A>G Benign 5 ARUP Laboratories
52306894 Exon 3 InDel/Frameshift c.74_78delAGCCGins176bp p.Lys25fs Pathogenic 3 ARUP Laboratories
52306895 Exon 3-8 Large Deletion c.61-?_1049+?del Deletion Exons 3-8 Pathogenic 1 Prigoda (2006)
52306898 Exon 3 Missense c.77C>T p.Pro26Leu Uncertain 2 ARUP Laboratories
52306904 Exon 3 Deletion/Frameshift c.83delG p.Arg28fs Pathogenic 1 Letteboer (2005)
52306907 Exon 3 Deletion/Frameshift c.86delG p.Gly29fs Pathogenic 1 Abdalla (2003)
Abdalla (2003)
52306909 Exon 3 Missense c.88C>T p.Pro30Ser 1 Bossler (2006)  
52306916 Exon 3 Missense c.95T>G p.Val32Gly 1 Lesca (2006)  
52306921 Exon 3 Deletion/Frameshift c.100_115del16 p.Cys34fs Pathogenic 1 Schulte (2005)
52306921 Exon 3 Insertion/Frameshift c.100_101insT p.Cys34fs Pathogenic 2 ARUP Laboratories
52306922 Exon 3 Missense c.101G>A p.Cys34Tyr 1 Bossler (2006)  
52306923 Exon 3 Nonsense c.102C>A p.Cys34X Pathogenic 1 Lesca (2006)
52306927 Exon 3 Missense c.106T>C p.Cys36Arg 1 ARUP Laboratories  
52306928 Exon 3 Missense c.107G>A p.Cys36Tyr 1 Fernandez (2006)  
52306936 Exon 3 Insertion/Frameshift c.115_118dupCCAC p.His40fs Pathogenic 1 Lenato (2006)
52306942 Exon 3 Missense c.121T>C p.Cys41Arg Pathogenic 2 Lenato (2006)
ARUP Laboratories
52306949 Exon 3 Deletion/Frameshift c.128_132delGGCCT p.Gly43fs Pathogenic 1 Wehner (2006)
52306950 Exon 3 Deletion/Frameshift c.129delG p.Pro44fs Pathogenic 2 ARUP Laboratories
52306957 Exon 3 InDel/Frameshift c.136_137delTGinsCT p.Cys46Leu 1 Wehner (2006)  
52306959 Exon 3 Nonsense c.138C>A p.Cys46X Pathogenic 1 ARUP Laboratories
52306960 Exon 3 Insertion/Frameshift c.139dupC p.Arg47fs Pathogenic 1 Bossler (2006)
52306960 Exon 3 Insertion/Frameshift c.139_140dupCG p.Arg47ProfsX7 Pathogenic 1 ARUP Laboratories
52306960 Exon 3 Insertion/Frameshift c.139_140insG p.Gly48fs Pathogenic 1 Klaus (1998)
52306961 Exon 3 Missense c.140G>C p.Arg47Pro 2 Fernandez (2006)
Wehner (2006)
 
52306963 Exon 3 Missense c.142G>A p.Gly48Arg Pathogenic 1 Lesca (2004)
52306964 Exon 3 Complex c.143G>A145
delG146_147insT
p.Gly48Glu, Ala49Pro Pathogenic 1 Abdalla (2000)
52306964 Exon 3 Missense c.143G>A p.Gly48Glu Pathogenic 2 Brusgaard (2004)
ARUP Laboratories
52306965 Exon 3 Insertion/Frameshift c.144_145insG p.Ala49fs Pathogenic 4 Klaus (1998)
Olivieri (2002)
ARUP Laboratories
52306966 Exon 3 Deletion/Frameshift c.145delG p.Ala49fs Pathogenic 2 Olivieri (2002)
Bossler (2006)
52306969 Exon 3 Missense c.148T>G p.Trp50Gly 1 Argyriou (2006)  
52306970 Exon 3 Nonsense c.149G>A p.Trp50X Pathogenic 2 Kuehl (2005)
Wehner (2006)
52306971 Exon 3 Missense c.150G>T p.Trp50Cys Pathogenic 3 Klaus (1998)
Abdalla (2000)
Berg (1997)
Abdalla (2003)
52306971 Exon 3 Nonsense c.150G>A p.Trp50X Pathogenic 1 Letteboer (2005)
52306973 Exon 3 Missense c.152G>A p.Cys51Tyr Pathogenic 5 Klaus (1998)
Olivieri (2002)
Lenato (2006)
Olivieri (2006)
ARUP Laboratories
52306975 Exon 3 Missense c.154A>G p.Thr52Ala 1 Bossler (2006)  
52306985 Exon 3 Deletion/InFrame c.164_169delTGGTGC p.Leu55_Val56del Pathogenic 1 Olivieri (2006)
52306993 Exon 3 Nonsense c.172G>T p.Glu58X Pathogenic 2 Olivieri (2002)
Bossler (2006)
Olivieri (2006)
52307004 Exon 3 Deletion/Frameshift c.183delG p.Arg61fs Pathogenic 1 ARUP Laboratories
52307011 Exon 3 Deletion/Frameshift c.190delC p.Gln64fs Pathogenic 2 Letteboer (2005)
Schulte (2005)
52307012 Exon 3 Deletion/Frameshift c.191delA p.Gln64fs Pathogenic 1 Bossler (2006)
52307018 Exon 3 Missense c.197A>C p.His66Pro 2 Lenato (2006)
Argyriou(2006)
 
52307020 Exon 3 Missense c.199C>T p.Arg67Trp Pathogenic 6 Olivieri (2002)
Abdalla (2005)
Kuehl (2005)
Bossler (2006)
Argyriou(2006)
ARUP Laboratories
52307021 Exon 3 Missense c.200G>A p.Arg67Gln Pathogenic 5 Berg (1997)
Schulte (2005)
Lenato (2006)
Bossler (2006)
Giordano (2006)
52307023 Exon 3 Missense c.202G>T p.Gly68Cys 1 Fernandez (2006)  
52307024 Exon 3 Deletion/Frameshift c.203delG p.Gly68fs Pathogenic 1 Letteboer (2005)
52307024 Exon 3 Insertion/Frameshift c.203_204insG p.Gly68fs Pathogenic 1 Olivieri (2006)
52307026 Exon 3 Insertion/Frameshift c.205_209dupTGCGG p.Gly70fs Pathogenic 1 Olivieri (2007)
52307026 Exon 3 Missense c.205T>C p.Cys69Arg 1 Argyriou (2006)  
52307027 Exon 2 Missense c.206G>T p.Cys69Phe Pathogenic 3 ARUP Laboratories
52307027 Exon 3 Missense c.206G>A p.Cys69Tyr 1 Lesca (2006)  
52307028 Exon 3 Silent c.207C>T p.Cys69Cys Benign 1 ARUP Laboratories
52307029 Exon 3 Missense c.208G>A p.Gly70Arg 3 ARUP Laboratories  
52307035 Exon 3 Deletion/InFrame c.214_219delTTGCAC p.72_73delLeuHis Suspected Pathogenic 2 ARUP Laboratories
52307036 Exon 3 Deletion/Frameshift c.215delT p.Leu72fs Pathogenic 1 Wehner (2006)
52307039 Exon 3 Insertion/Frameshift c.218_219insAA p.His73Gln fs Pathogenic 1 Lenato (2006)
52307050 Exon 3 Deletion/InFrame c.229_240del
TGCAGGGGGCGC
p.Cys77_Arg80del Suspected Pathogenic 1 Wehner (2006)
52307051 Exon 3 Missense c.230G>A p.Cys77Tyr 1 ARUP Laboratories  
52307052 Exon 3 Missense c.231C>G p.Cys77Trp 1 Klaus (1998)  
52307056 Exon 3 Missense c.235G>A p.Gly79Arg 1 Olivieri (2006)  
52307058 Exon 3 Insertion/Frameshift c.237_238insG p.Arg80fs Pathogenic 1 Abdalla (2003)
52307064 Exon 3 Deletion/Frameshift c.243delC p.Pro81fs Pathogenic 1 ARUP Laboratories
52307064 Exon 3 Insertion/Frameshift c.243_244dupC p.Thr82fs Pathogenic 1 Lesca (2004)
52307065 Exon 3 Deletion/InFrame c.244_246delACC p.Thr82del Suspected Pathogenic 1 Fernandez (2006)
52307067 Exon 3 Deletion/Frameshift c.246delC p.Thr82fs Pathogenic 1 Kuehl (2005)
52307080 Exon 3 Missense c.259C>G p.His87Asp 2 ARUP Laboratories  
52307084 Exon 3 Missense c.263A>G p.Tyr88Cys 1 Gedge (2007)  
52307086 Exon 3 Missense c.265T>C p.Cys89Arg Uncertain 1 ARUP Laboratories
52307090 Exon 3 Missense c.266G>A p.Cys89Tyr 3 Lesca(2006)
Gedge(2007)
ARUP Laboratories
 
52307104 Exon 3 Nonsense c.270C>A p.Cys90X Pathogenic 2 Lenato (2006)
ARUP Laboratories
52307107 Exon 3 Missense c.283T>C p.Cys95Arg 1 Klaus (1998)  
52307110 Exon 3 Missense c.286A>G p.Asn96Asp 1 Olivieri (2002)
Olivieri (2006)
 
52307114 Exon 3 Deletion/InFrame c.289_294delCACAAC p.His97_Asn98del Pathogenic 1 Prigoda (2006)
52307122 Exon 3 Missense c.293A>G p.Asn98Ser 1 Prigoda(2006)
 
52307145 Exon 3 Deletion/Frameshift c.301_307delCTGGTGC p.Leu101fs Pathogenic 1 ARUP Laboratories
52307145 Exon 3 Intronic SNV c.313+40G>C Benign 2 ARUP Laboratories
52307145 Intron 3 Intronic SNV c.313+11C>T Benign 1 ARUP Laboratories
52307145 Intron 3 Intronic SNV c.313+40G>A Benign 2 ARUP Laboratories
52307308 Intron 3 Splice Defect c.313+1G>A Pathogenic 3 Prigoda (2006)
Simon(2006)
ARUP Laboratories
52307308 Intron 3 Intronic SNV c.314-35A>G Benign 1 Gedge (2007)
52307308 Intron 3 Intronic SNV c.314-49G>A Benign 1 ARUP Laboratories
52307308 Intron 3 Intronic SNV c.314-49G>C Benign 1 Prigoda (2006)
52307348 Intron 3 Splice Defect c.314-3C>G 1 Argyriou (2006)  
52307350 Exon 4 Large Deletion EX4del Deletion Exon 4 Pathogenic 1 ARUP Laboratories
52307350 Exon 4 Deletion/Frameshift c.319delC p.Gln107fs Pathogenic 1 Olivieri (2006)
52307359 Exon 4 Deletion/Frameshift c.321delA p.Glu107fs Pathogenic 1 ARUP Laboratories
52307359 Exon 4 Silent c.330G>A p.Ser110Ser Benign 7 Letteboer (2005)
Simon (2006)
Gedge(2007)
ARUP Laboratories
52307382 Exon 4 Nonsense c.352C>T p.Gln118X Pathogenic 2 ARUP Laboratories
52307382 Exon 4 Insertion/Frameshift c.353_360dupAGCTGGCC p.Leu121fs Pathogenic 2 Fontalba(2008)
ARUP Laboratories
52307410 Exon 4 Insertion/Frameshift c.372_373insCC p.Pro125fs Pathogenic 2 ARUP Laboratories
52307412 Exon 4 Missense c.381G>A p.Leu127Leu Benign 2 Abdalla (2005)
ARUP Laboratories
52307429 Exon 4 Missense c.383C>A p.Ala128Asp 1 Klaus (1998)  
52307430 Exon 4 Deletion/Frameshift c.400delG p.Ala134fs Pathogenic 1 ARUP Laboratories
52307435 Exon 4 Missense c.401C>A p.Ala134Asp Uncertain 1 Klaus (1998)
52307452 Exon 4 Deletion/Frameshift c.406_409delGGTG p.Gly136fs Pathogenic 2 ARUP Laboratories
52307452 Exon 4 Nonsense c.423G>A p.Trp141X Pathogenic 2 Abdalla (2003)
ARUP Laboratories
52307459 Exon 4 Nonsense c.430C>T p.Arg144X Pathogenic 7 Paquet (2001)
Abdalla (2003)
Lesca (2004)
Schulte (2005)
Kjeldsen (2005)
Lenato (2006)
Giordano (2006)
Olivieri (2006)
Fernandez (2005)
Fernandez (2006)
52307465 Exon 4 Deletion/Frameshift c.434delG p.Arg145fs Pathogenic 1 Bossler (2006)
52307468 Exon 4 Insertion/Frameshift c.436dupG p.Arg146fs Pathogenic 1 Letteboer (2005)
52307477 Exon 4 Nonsense c.439C>T p.Gln147X Pathogenic 1 Lenato (2006)
52307503 Exon 4 Nonsense c.448C>T p.Gln150X Pathogenic 1 Bossler (2006)
52307504 Exon 4 Silent c.474A>T p.Gly158Gly Benign 2 ARUP Laboratories
52307504 Exon 4 Nonsense c.475G>T p.Glu159X Pathogenic 2 Berg (1997)
ARUP Laboratories
52307509 Exon 4 Deletion/Frameshift c.476_477delAG p.Glu159fs Pathogenic 2 ARUP Laboratories
52307510 Exon 4 Deletion/Frameshift c.480_481delCA p.Ser161fs Pathogenic 1 ARUP Laboratories
52307510 Exon 4 Missense c.481A>G p.Ser161Gly Uncertain 1 ARUP Laboratories
52307529 Exon 4 Missense c.500C>G p.Ser167Cys 1 Gedge (2007)  
52307539 Exon 4 Deletion/Frameshift c.510delC p.Gly170fs Pathogenic 1 Lesca (2004)
52307554 Exon 4 Splice Defect c.525+1delG Pathogenic 2 ARUP Laboratories
52307554 Exon 4 Splice Defect c.525_525+1delGG Pathogenic 1 Lesca (2006)
52307554 Intron 4 Intronic SNV c.525-49G>C Benign 1 ARUP Laboratories
52307555 Intron 4 Splice Defect c.525+1G>A Pathogenic 1 ARUP Laboratories
52307556 Intron 4 Splice Defect c.525+2T>C Pathogenic 2 ARUP Laboratories
52307557 Intron 4 Splice Defect ? c.525+3A>G Uncertain 1 ARUP Laboratories
52307751 Intron 4 Splice Defect ? c.526-7C>G 1 Argyriou (2006)  
52307757 Exon 5 Large Deletion EX5del Deletion Exon 5 Pathogenic 1 ARUP Laboratories
52307758 Exon 5 Large Deletion c.526-?_625+?del Deletion Exon 5 Pathogenic 1 Bossler (2006)
52307758 Exon 5 Deletion/Frameshift c.526delG p.Asp176fs Pathogenic 1 ARUP Laboratories
52307758 Exon 5 Missense c.526G>T p.Asp176Tyr 1 Argyriou (2006)  
52307768 Exon 5 Missense c.536A>C p.Asp179Ala 1 Harrison (2003)  
52307772 Exon 5 Insertion/Frameshift c.540_541insA p.Asp181fs Pathogenic 3 Wehner (2006)
ARUP Laboratories
52307795 Exon 5 Deletion/Frameshift c.563delC p.Thr188fs Pathogenic 2 ARUP Laboratories
52307799 Exon 5 Deletion/Frameshift c.567delG p.Gly189fs Pathogenic 2 ARUP Laboratories
52307805 Exon 5 Deletion/Frameshift c.573delC p.Phe192fs Pathogenic 2 Schulte (2005)
ARUP Laboratories
52307818 Exon 5 Missense c.586A>G p.Arg196Gly 1 ARUP Laboratories  
52307822 Exon 5 Missense c.590C>T p.Thr197Ile 1 Bossler (2006)  
52307833 Exon 5 Nonsense c.601C>T p.Gln201X Pathogenic 3 ARUP Laboratories
52307834 Exon 5 Missense c.602A>C p.Gln201Pro Uncertain 1 ARUP Laboratories
52307843 Exon 5 Missense c.611T>G p.Leu204Trp Suspected Pathogenic 3 ARUP Laboratories
52307857 Exon 5 Insertion/Frameshift c.625_626insTG p.Gly209fs Pathogenic 1 Letteboer (2005)
52307858 Intron 5 Splice Defect c.625+1delGinsTTT 1 ARUP Laboratories  
52307967 Intron 5 Intronic deletion c.625+110_130del21 Benign 6 Prigoda (2006)
ARUP Laboratories
52308163 Intron 5 Intronic insertion c.626-60_59delGGinsT Benign 4 Lesca (2004)
Lenato (2006)
Gedge (2007)
ARUP Laboratories
52308165 Intron 5 Intronic deletion c.626-58_60delGGC Benign 1 ARUP Laboratories
52308170 Intron 5 Intronic SNV c.626-53C>T Benign 3 Prigoda (2006)
ARUP Laboratories
52308193 Intron 5 Intronic SNV c.626-30G>A Benign 1 ARUP Laboratories
52308214 Intron 5 Splice Defect ? c.626-9_630del
GGCCATCAGGAAA
1 Argyriou (2006)  
52308217 Intron 5 Splice Defect ? c.626-6del14 1 Letteboer (2005)  
52308220 Intron 5 Splice Defect c.626-3C>G r.626_772del
r.526_772del
Pathogenic 2 Lenato (2006)
Giordano (2006)
ARUP Laboratories
52308229 Exon 6 Missense c.632G>A p.Gly211Asp 2 Harrison (2003)
Bayrak-Toydemir (2004)
 
52308229 Exon 6 Missense c.632G>C p.Gly211Ala 1 ARUP Laboratories  
52308240 Exon 6 Missense c.643G>A p.Glu215Lys 1 Lesca (2004)  
52308244 Exon 6 Missense c.647T>G p.Val216Gly Uncertain 2 ARUP Laboratories
52308247 Exon 6 Nonsense c.650G>A p.Trp217X Pathogenic 1 Olivieri (2007)
52308248 Exon 6 Nonsense c.651G>A p.Trp217X Pathogenic 2 Bossler (2006)
ARUP Laboratories
52308253 Exon 6 Missense c.656G>A p.Gly219Asp 1 Bossler (2006)  
52308259 Exon 6 Nonsense c.662G>A p.Trp221X Pathogenic 1 ARUP Laboratories
52308260 Exon 6 Nonsense c.663G>A p.Trp221X Pathogenic 1 ARUP Laboratories
52308261 Exon 6 Deletion/Frameshift c.664_668delCACGG p.His222fs Pathogenic 1 Lesca (2004)
52308263 Exon 6 Missense c.666C>T p.His222His Benign 1 Prigoda (2006)
52308264 Exon 6 Missense c.667G>C p.Gly223Arg 1 Lesca (2004)  
52308267 Exon 6 Missense c.670G>A p.Glu224Lys 1 Lesca (2006)  
52308270 Exon 6 Deletion/Frameshift c.673_674delAG p.Ser225fs Pathogenic 1 ARUP Laboratories
52308279 Exon 6 Deletion/Frameshift c.682delG p.Val228fs Pathogenic 1 Lesca (2004)
52308280 Exon 6 Missense c.683T>A p.Val228Asp Uncertain 2 ARUP Laboratories
52308283 Exon 6 Missense c.686A>G p.Lys229Arg 1 Lesca (2004)  
52308283 Exon 6 Missense c.686A>T p.Lys229Met 1 Lenato (2006)  
52308293 Exon 6 Deletion/InFrame c.696_698delCTC p.Ser233del Pathogenic 4 Abdalla (2000)
Johnson (1996)
Lesca (2004)
Berg (1997)
Bossler (2006)
ARUP Laboratories
52308295 Exon 6 Missense c.698C>T p.Ser233Leu Pathogenic 6 Argyriou (2006)
ARUP Laboratories
52308301 Exon 6 Deletion/Frameshift c.704delA p.Asp235fs Pathogenic 1 Lesca (2004)
52308306 Exon 6 Missense c.709C>A p.Gln237Lys 1 Bossler (2006)  
52308306 Exon 6 Nonsense c.709T>C p.Gly237X Pathogenic 1 Lesca (2006)
52308313 Exon 6 Nonsense c.716G>A p.Trp239X Pathogenic 1 Prigoda (2006)
52308344 Exon 6 Silent c.747G>A p.Val249Val Benign 8 Abdalla (2003)
Lenato (2006)
ARUP Laboratories
52308356 Exon 6 Deletion/InFrame c.759_761delCGA p.Asp254del Pathogenic See entry for c.760_762delGAC
52308357 Exon 6 Deletion/InFrame c.760_762delGAC p.Asp254del Pathogenic 5 Trembath (2001)
Gedge(2007)
ARUP Laboratories
52308390 Intron 6 Intronic SNV c.772+21T>A 1 Lesca (2006)  
52308393 Intron 6 Intronic SNV c.772+24C>T Benign 1 ARUP Laboratories
52308396 Intron 6 Intronic SNV c.772+27G>C Benign 1 ARUP Laboratories
52309006 Intron 6 Intronic insertion c.773-59insT Benign 1 Gedge (2007)
52309006 Intron 6 Splice Defect c.773-3C>G Uncertain 2 Lesca (2004)
Gedge (2007)
52309007 Intron 6 Splice Defect c.773-2A>C Pathogenic 1 ARUP Laboratories
52309014 Intron 6 Splice Defect c.773-2A>G Pathogenic 1 Bossler (2006)
52309029 Exon 7 Missense c.778A>C p.Ile260Leu 1 Argyriou (2006)  
52309046 Exon 7 Missense c.793A>C p.Thr265Pro 1 Olivieri (2002)  
52309048 Exon 7 Deletion/Frameshift c.810_822del
CACGCAGCTGTGG
p.Ser271fs Pathogenic 2 ARUP Laboratories
52309048 Exon 7 Missense c.812C>A p.Thr271Lys Uncertain 2 Gedge (2007)
ARUP Laboratories
52309054 Exon 7 Missense c.817C>T p.Leu273Leu Benign 2 ARUP Laboratories
52309054 Exon 7 Missense c.818T>C p.Leu273Pro Uncertain 2 Abdalla (2005)
ARUP Laboratories
52309060 Exon 7 Nonsense c.822G>A p.Trp274X Pathogenic 1 Olivieri (2006)
52309063 Exon 7 Insertion/Frameshift c.824_825insGGCT p.Lys273fs Pathogenic 1 Abdalla (2005)
52309074 Exon 7 Missense c.827T>C p.Ile276Thr 1 Brusgaard (2004)  
52309074 Exon 7 Insertion/Inframe c.838_846dupCACGAGCAC p.His280_His282dup Pathogenic 1 Lesca (2006)
52309077 Exon 7 Missense c.838C>A p.His280Asp 1 ARUP Laboratories  
52309078 Exon 7 Nonsense c.841G>T p.Glu281X Pathogenic 1 Schulte (2005)
52309087 Exon 7 Deletion/Frameshift c.842delA p.Glu281fs Pathogenic 1 Abdalla (2005)
52309089 Exon 7 Missense c.851C>T p.Ser284Phe 2 ARUP Laboratories  
52309094 Exon 7 Missense c.853C>T p.Leu285Phe Pathogenic 4 Lesca (2004)
Olivieri (2002)
Letteboer (2005)
Lenato (2006)
Giordano (2006)
52309094 Exon 7 Nonsense c.858C>A p.Tyr286X Pathogenic 1 Lesca (2006)
52309100 Exon 7 Nonsense c.858C>G p.Tyr286X Pathogenic 1 Berg (1997)
52309102 Exon 7 Insertion/Frameshift c.864_865insT p.Leu289fs Pathogenic 2 ARUP Laboratories
52309102 Exon 7 Missense c.866T>C p.Leu289Pro Pathogenic 2 Bossler (2006)
ARUP Laboratories
52309110 Exon 7 Deletion/Frameshift c.870delG p.Arg291fs Pathogenic 2 ARUP Laboratories
52309111 Exon 7 Nonsense c.874C>T p.Gln292X Pathogenic 3 Schulte (2005)
Lesca(2006)
ARUP Laboratories
52309126 Exon 7 Missense c.875A>C p.Gln292Pro 1 Fernandez (2006)  
52309135 Exon 7 Missense c.890A>G p.His297Arg 1 ARUP Laboratories  
52309141 Exon 7 Missense c.899T>C p.Leu300Pro 1 Schulte (2005)  
52309149 Exon 7 Missense c.905T>G p.Leu302Arg 2 Assis (2007)  
52309149 Exon 7 Deletion/Frameshift c.913delT p.Ser305fs Pathogenic 2 Abdalla (2005)
ARUP Laboratories
52309150 Exon 7 Missense c.913T>C p.Ser305Pro 3 ARUP Laboratories  
52309150 Exon 7 Missense c.914C>T p.Ser305Phe Pathogenic 5 Gedge (2007)
ARUP Laboratories
52309155 Exon 7 Missense c.916G>C p.Ala306Pro 1 Lesca (2004)  
52309155 Exon 7 Missense c.919G>C p.Ala307Pro Uncertain 3 ARUP Laboratories
52309160 Exon 7 Insertion/Frameshift c.921_927dupATGCGGC p.Leu310fs Pathogenic 3 Berg (1997)
Lenato (2006)
Bossler (2006)
52309161 Exon 7 Nonsense c.924C>A p.Cys308X Pathogenic 3 ARUP Laboratories
52309161 Exon 7 Missense c.925G>A p.Gly309Ser Pathogenic 3 Lesca (2006)
Letteboer (2005)
Gedge(2007)
ARUP Laboratories
52309167 Exon 7 Missense c.925G>T p.Gly309Cys 3 ARUP Laboratories  
52309169 Exon 7 Missense c.931G>A p.Ala311Thr Uncertain 3 Lenato (2006)
ARUP Laboratories
52309176 Exon 7 Splice Site/Silent c.933G>A p.Ala311Ala Uncertain 3 Lesca (2004)
Schulte (2005)
Bossler (2006)
52309186 Exon 7 Missense c.940C>T p.His314Tyr 1 Lesca (2004)  
52309192 Exon 7 Missense c.950T>C p.Ile317Thr Uncertain 1 Lesca (2006)
52309197 Exon 7 Missense c.956G>A p.Gly319Asp 3 Lesca (2006)  
52309208 Exon 7 Nonsense c.961C>T p.Gln321X Pathogenic 2 Paquet (2001)
Lesca (2004)
52309212 Exon 7 Deletion/Frameshift c.972delA p.Pro324fs Pathogenic 1 Assis (2007)
52309218 Exon 7 Missense c.976A>G p.Ile326Val 2 ARUP Laboratories  
52309218 Exon 7 Missense c.982C>T p.His328Tyr Uncertain 1 Gedge (2007)
52309219 Exon 7 Missense c.983A>C p.His328Pro Uncertain 2 Fernandez (2006)
52309222 Exon 7 Missense c.986G>A p.Arg329His Pathogenic 5 Abdalla (2000)
McDonald (2000)
Berg (1997)
Abdalla (2003)
Bayrak-Toydemir (2006)
ARUP Laboratories
52309224 Exon 7 Missense c.988G>A p.Asp330Asn 1 Letteboer (2005)  
52309224 Exon 7 Missense c.988G>T p.Asp330Tyr 3 Olivieri (2002)
Letteboer (2005)
Lenato (2006)
 
52309228 Exon 7 Missense c.992T>C p.Phe331Ser 1 Bossler (2006)  
52309233 Exon 7 Missense c.997A>G p.Ser333Gly 1 Schulte (2005)  
52309234 Exon 7 Missense c.998G>T p.Ser333Ile Pathogenic 4 ARUP Laboratories
52309236 Exon 7 InDel/Frameshift c.1000_1005del
CGCAATinsG
p.Arg334Asn335
delfs
Pathogenic 1 Bayrak-Toydemir (2004)
52309243 Exon 7 Missense c.1007T>A p.Val336Glu Uncertain 3 ARUP Laboratories
52309246 Exon 7 Deletion/Frameshift c.1010delT p.Leu337fs Pathogenic 3 Lesca (2006)
ARUP Laboratories
52309246 Exon 7 Missense c.1010T>C p.Leu337Pro 3 Lesca (2004)
ARUP Laboratories
 
52309259 Exon 7 Missense c.1023C>G p.Asn341Lys 3 Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
 
52309261 Exon 7 Missense c.1025T>C p.Leu342Pro Uncertain 2 ARUP Laboratories
52309263 Exon 7 Nonsense c.1027C>T p.Gln343X Pathogenic 2 ARUP Laboratories
52309266 Exon 7 Missense c.1030T>C p.Cys344Arg Pathogenic 3 Bayrak-Toydemir (2006)
Bossler (2006)
Gedge(2007)
ARUP Laboratories
52309267 Exon 7 Missense c.1031G>A p.Cys344Tyr Pathogenic 6 Abdalla (2000)
Harrison (2003)
Schulte (2005)
Bayrak-Toydemir (2006)
Wehner (2006)
Bossler (2006)
Gedge(2007)
ARUP Laboratories
52309267 Exon 7 Missense c.1031G>T p.Cys344Phe 2 Abdalla (2000)
Olivieri (2002)
 
52309275 Exon 7 Missense c.1039G>C p.Ala347Pro 2 Olivieri (2002)
Lesca (2004)
 
52309278 Exon 7 Deletion/Frameshift c.1042delG p.Asp348fs Pathogenic 1 Letteboer (2005)
52309282 Exon 7 Missense c.1046T>G p.Leu349Arg Uncertain 1 ARUP Laboratories
52309284 Exon 7 Missense c.1048G>C p.Gly350Arg Suspected Pathogenic 2 Letteboer (2005)
Gedge(2007)
ARUP Laboratories
52309284 Exon 7 Missense c.1048G>A p.Gly350Ser 1 Schulte (2005)  
52309285 Intron 7 Splice Defect c.1048+1G>C Suspected Pathogenic 1 ARUP Laboratories
52309285 Intron 7 Splice Defect c.1048+1G>A Suspected Pathogenic 2 Lesca (2006)
52309289 Intron 7 Splice Defect c.1048+5G>A Suspected Pathogenic 2 ARUP Laboratories
52309289 Intron 7 Splice Defect c.1048+5G>T Suspected Pathogenic 1 ARUP Laboratories
52309339 Intron 7 Intronic deletion c.1048+55_58delTCTC Benign 2 Gedge (2007)
ARUP Laboratories
52309816 Intron 7 Intronic InDel c.1049-4_1049-2delACAinsCC 1 Lenato (2006)  
52309825 Exon 8 Missense c.1054G>C p.Ala352Pro 1 Olivieri (2002)  
52309826 Exon 8 Missense c.1055C>A p.Ala352Asp Pathogenic 3 Prigoda (2006)
ARUP Laboratories
52309831 Exon 8 Silent c.1060C>T p.Leu354Leu Benign 1 ARUP Laboratories
52309832 Exon 8 Deletion/Frameshift c.1061_1068delTGCACTCA p.Met354fs Pathogenic 2 Letteboer (2005)
Bossler (2006)
52309832 Exon 8 Missense c.1061T>A p.Met354Lys 1 Wehner (2006)  
52309840 Exon 8 Nonsense c.1069C>T p.Gln357X Pathogenic 2 Abdalla (2005)
Bossler (2006)
52309842 Exon 8 Deletion/Frameshift c.1071delG p.Gln357fs Pathogenic 1 Letteboer (2005)
52309851 Exon 8 Insertion/Frameshift c.1080_1099dup
GCACTCACAGGGCAGCGAT
p.Tyr361fs Pathogenic 1 Olivieri (2002)
52309863 Exon 8 Silent c.1092C>T p.Ile364Ile Benign 1 Lenato (2006)
52309878 Exon 8 Deletion/Frameshift c.1107_1108delAG p.Arg369fs Pathogenic 1 Letteboer (2005)
52309882 Exon 8 Missense c.1111G>A p.Gly371Ser Uncertain 1 ARUP Laboratories
52309883 Exon 8 Insertion/Frameshift c.1112_1113dupG p.Gly371fs Pathogenic 5 Abdalla (2000)
Abdalla (2003)
Lesca (2004)
Abdalla (2003)
Bayrak-Toydemir (2006)
Lesca(2006)
52309883 Exon 8 Missense c.1112G>T p.Gly371Val Uncertain 2 Gedge (2007)
ARUP Laboratories
52309886 Exon 8 Missense c.1115C>T p.Thr372Ile 2 Lenato (2006)
Wehner (2006)
 
52309891 Exon 8 Deletion/InFrame c.1120_1137del18 p.Arg374_Glu379del Pathogenic 1 Letteboer (2005)
52309891 Exon 3 Missense c.1120C>T p.Arg374Trp Pathogenic 18 Abdalla (2003)
Kjeldson (2001)
Harrison (2003)
Abdalla (2004)
Berg (1997)
Letteboer (2005)
Brusgaard (2004)
Sanz-Rodriguez (2004)
Abdalla (2005)
Kuehl (2005)
Fernandez (2005)
Lenato (2006)
Bayrak-Toydemir (2006)
Fernandez (2006)
Wehner (2006)
Bossler (2006)
ARUP Laboratories
52309892 Exon 7 Missense c.1121G>A p.Arg374Gln Pathogenic 5 Abdalla (2003)
Lesca (2004)
Letteboer (2005)
Abdalla (2003)
ten Dijke (1993)
Bayrak-Toydemir (2006)
Gedge(2007)
ARUP Laboratories
52309894 Exon 8 Missense c.1123T>C p.Tyr375His Uncertain 1 Abdalla (2003)
Abdalla (2003)
52309896 Exon 8 Insertion/Frameshift c.1125_1126insGTAC p.Met376fs Pathogenic 1 Lesca (2004)
52309897 Exon 8 Missense c.1126A>G p.Met376Val Pathogenic 3 Lesca (2004)
Bossler (2006)
Gedge(2007)
52309898 Exon 8 Missense c.1127T>G p.Met376Arg Pathogenic 4 Johnson (1996)
Berg (1997)
Wehner (2006)
ARUP Laboratories
52309898 Exon 8 Missense c.1127T>A p.Met376Lys Pathogenic 1 Olivieri (2006)
52309898 Exon 8 Missense c.1127T>C p.Met376Thr Pathogenic 1 Fernandez (2006)
52309900 Exon 8 Missense c.1129G>A p.Ala377Thr Uncertain 1 Fernandez (2006)
52309901 Exon 8 Missense c.1130C>T p.Ala377Val Uncertain 2 ARUP Laboratories
52309902 Exon 8 Missense c.1131A>G p.Ala377Ala Uncertain 1 ARUP Laboratories
52309903 Exon 8 Missense c.1132C>T p.Pro378Ser Uncertain 2 ARUP Laboratories
52309904 Exon 8 Missense c.1133C>A p.Pro378His 1 Abdalla (2005)  
52309904 Exon 8 Missense c.1133C>T p.Pro378Leu 1 Olivieri (2002)  
52309906 Exon 8 Missense c.1135G>A p.Glu379Lys Suspected Pathogenic 4 Lesca (2004)
Brusgaard (2004)
Kuehl (2005)
Lenato (2006)
ARUP Laboratories
52309910 Exon 8 Missense c.1139T>G p.Val380Gly 1 Letteboer (2005)  
52309915 Exon 8 Missense c.1144G>C p.Asp382His Uncertain 2 ARUP Laboratories
52309928 Exon 8 Missense c.1157G>A p.Arg386His 1 Abdalla (2005)  
52309937 Exon 8 Missense c.1166G>A p.Cys389Tyr 1 ARUP Laboratories  
52309942 Exon 8 Nonsense c.1171G>T p.Glu391X Pathogenic 3 McAllister (1995)
Abdalla (2003)
Bossler (2006)
52309958 Exon 8 Missense c.1187C>A p.Thr396Asn Suspected Pathogenic 1 ARUP Laboratories
52309960 Exon 8 Missense c.1189G>A p.Asp397Asn 2 Letteboer (2005)
Olivieri (2006)
 
52309961 Exon 8 Missense c.1190A>G p.Asp397Gly 1 Lesca (2004)  
52309964 Exon 8 Missense c.1193T>A p.Ile398Asp 2 Kjeldson (2001)
Brusgaard (2004)
 
52309967 Exon 8 Missense c.1196G>C p.Trp399Ser 1 Harrison (2003)  
52309970 Exon 8 Missense c.1199C>A p.Ala400Glu 1 Olivieri (2002)
Olivieri (2006)
 
52309975 Exon 8 Missense c.1204G>A p.Gly402Ser 2 Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
Assis (2007)
 
52309976 Exon 8 Missense c.1205 G>A p.Gly402Asp 1 ARUP Laboratories  
52309979 Exon 8 Missense c.1208T>C p.Leu403Pro 2 Lenato (2006)
Giordano (2006)
Argyriou(2006)
 
52309985 Exon 8 Missense c.1214T>A p.Leu405Gln Suspected Pathogenic 1 ARUP Laboratories
52309986 Exon 8 Deletion/Frameshift c.1215delG p.Leu405fs Pathogenic 1 ARUP Laboratories
52309989 Exon 8 Missense c.1218G>C p.Trp406Cys 1 Letteboer (2005)  
52309989 Exon 8 Missense c.1218G>T p.Trp406Cys 1 Lenato (2006)  
52309991 Exon 8 Missense c.1220A>G p.Glu407Gly Pathogenic 2 Gedge (2007)
ARUP Laboratories
52309992 Exon 8 Missense c.1221G>T p.Glu407Asp Pathogenic 3 Abdalla (2000)
Abdalla (2003)
Kuehl (2005)
ARUP Laboratories
52310002 Exon 8 Missense c.1231C>T p.Arg411Trp Uncertain 6 Trembath (2001)
Abdalla (2003)
Zhang (2004)
Lesca (2004)
Schulte (2005)
Kuehl (2005)
Letteboer (2005)
Argyriou(2006)
Lenato (2006)
Wehner (2006)
Bossler (2006)
Gedge(2007)
52310003 Exon 8 Missense c.1232G>A p.Arg411Gln Pathogenic 12 Lin (2001)
Abdalla (2003)
Johnson (1996)
Lesca (2004)
Berg (1997)
Brusgaard (2004)
Harrison (2003)
Abdalla (2003)
Schulte (2005)
Lenato (2006)
Bayrak-Toydemir (2006)
Bossler (2006)
Olivieri (2006)
Gedge(2007)
ARUP Laboratories
52310003 Exon 8 Missense c.1232G>C p.Arg411Pro Pathogenic 2 Lesca(2006)
Gedge(2007)
52310017 Exon 8 Missense c.1246G>A p.Gly416Ser Uncertain 3 Lesca (2006)
Argyriou(2006)
ARUP Laboratories
52310018 Intron 8 Splice Defect c.1246+1G>A Pathogenic 1 Bossler (2006)
52310019 Intron 8 Splice Defect c.1246+2T>G Pathogenic 1 Lenato (2006)
52310022 Intron 8 Splice Defect ? c.1246+5G>A 1 ARUP Laboratories  
52310026 Intron 8 Splice Defect ? c.1246+9C>T Uncertain 1 ARUP Laboratories
52310036 Intron 8 Intronic SNV c.1246+19C>T Uncertain 1 ARUP Laboratories
52312769 Intron 8 Intronic SNV c.1247-86_84ATA>TAT Benign 1 ARUP Laboratories
52312769 Exon 9-10 Large Deletion c.1247_1512del p.Gly416_Gln503del Pathogenic 1 Prigoda (2006)
52312770 Exon 9-10 Large Deletion EX9_10del Deletion Exons 9-10 Pathogenic 1 ARUP Laboratories
52312771 Exon 9 Missense c.1249A>T p.Ile417Phe Uncertain 1 ARUP Laboratories
52312772 Exon 9 Deletion/Frameshift c.1250_1269del20 p.Ile417 fs Pathogenic 1 ARUP Laboratories
52312783 Exon 9 Missense c.1261 T>G p.Tyr421Asp 1 ARUP Laboratories  
52312791 Exon 9 Deletion/Frameshift c.1269delA p.Phe425fs Pathogenic 1 Wehner (2006)
52312792 Exon 9 Missense c.1270C>A p.Pro424Thr 1 Berg (1997)  
52312792 Exon 9 Missense c.1270C>T p.Pro424Ser 1 Abdalla (2005)  
52312793 Exon 9 Missense c.1271C>T p.Pro424Leu 1 Letteboer (2005)  
52312795 Exon 9 Missense c.1273T>G p.Phe425Val 1 Kuehl (2005)  
52312796 Exon 9 Deletion/InFrame c.1274_1276delTCT p.Phe425del 1 Kuehl (2005)  
52312797 Exon 9 Missense c.1275C>G p.Phe425Leu 3 Lesca (2004)
Lenato (2006)
Bossler (2006)
 
52312798 Exon 9 Missense c.1276A>G p.Tyr426Cys 1 Bossler (2006)  
52312802 Exon 9 Missense c.1280A>T p.Asp427Val 2 Lenato (2006)
Lesca(2006)
 
52312819 Exon 9 Missense c.1297C>T p.Pro433Ser 1 Letteboer (2005)  
52312820 Exon 9 Missense c.1298C>G p.Pro433Arg 1 Bossler (2006)  
52312821 Exon 9 Deletion/Frameshift c.1299delC p.Pro433fs Pathogenic 2 Abdalla (2003)
Berg (1997)
Abdalla (2003)
52312824 Exon 9 InDel/Frameshift c.1302_1303delCTinsA p.Ser434fs Pathogenic 1 Argyriou (2006)
52312831 Exon 9 Deletion/Frameshift c.1309delG p.Asp437fs Pathogenic 3 ARUP Laboratories
52312832 Exon 9 Missense c.1310A>G p.Asp437Gly Uncertain 2 ARUP Laboratories
52312835 Exon 9 Missense c.1313T>G p.Met438Arg Pathogenic 3 ARUP Laboratories
52312835 Exon 9 Missense c.1313T>C p.Met438Thr 1 Letteboer (2005)  
52312837 Exon 9 Nonsense c.1315A>T p.Lys440X Pathogenic 1 ARUP Laboratories
52312840 Exon 9 Deletion/InFrame c.1318_1320delAAG p.Lys440del 1 Bossler (2006)  
52312843 Exon 9 Missense c.1321G>A p.Val441Met 1 Abdalla (2005)  
52312846 Exon 9 Deletion/InFrame c.1324_1326delGTG p.Val442del Uncertain 1 ARUP Laboratories
52312847 Exon 9 Missense c.1325T>C p.Val442Ala Uncertain 2 Brakensiek (2008)
ARUP Laboratories
52312854 Exon 9 Insertion/Frameshift c.1332_1333insTG p.Asp445fs Pathogenic 1 ARUP Laboratories
52312858 Exon 9 Nonsense c.1336C>T p.Gln446X Pathogenic 3 ARUP Laboratories
52312868 Exon 9 Missense c.1346C>T p.Pro449Leu 3 Wehner (2006)
ARUP Laboratories
 
52312869 Exon 9 Insertion/Frameshift c.1347_1348insC Framehift Pathogenic 1 ARUP Laboratories
52312877 Exon 9 Missense c.1355C>T p.Pro452Leu Pathogenic 2 Abdalla (2005)
Bossler (2006)
ARUP Laboratories
52312899 Exon 9 Missense c.1377G>A p.Pro459Pro Uncertain 1 ARUP Laboratories
52312900 Intron 9 Splice Defect c.1377+1G>A Pathogenic 2 Kuehl (2005)
ARUP Laboratories
52312944 Intron 9 Intronic SNV c.1377+45T>C Benign 20 Gedge(2007)
ARUP Laboratories
52314475 Intron 9 Intronic SNV c.1378-68A>G Benign 1 Bossler (2006)
52314481 Intron 9 Intronic SNV c.1378-62C>A Benign 2 ARUP Laboratories
52314513 Intron 9 Intronic SNV c.1378-30T>C Benign 2 Abdalla (2003)
ARUP Laboratories
52314541 Intron 9 Splice Defect c.1378-2A>G Pathogenic 1 Wehner (2006)
52314542 Intron 9 Splice Defect c.1378-1G>T Pathogenic 1 ARUP Laboratories
52314543 Exon 10 Large Deletion EX10del Deletion Exon 10 Pathogenic 3 ARUP Laboratories
52314543 Exon 10 Deletion/InFrame c.1378_1512del p.Val460_Gln503del 1 Prigoda (2006)  
52314550 Exon 10 Nonsense c.1385C>G p.Ser462X Pathogenic 1 Abdalla (2004)
52314561 Exon 10 Nonsense c.1396C>T p.Gln466X Pathogenic 1 ARUP Laboratories
52314573 Exon 10 Nonsense c.1408G>T p.Glu470X Pathogenic 1 Letteboer (2005)
52314576 Exon 10 Missense c.1411T>C p.Cys471Arg 1 ARUP Laboratories  
52314578 Exon 10 Nonsense c.1413C>A p.Cys471X Pathogenic 1 Bossler (2006)
52314593 Exon 10 Insertion/Frameshift c.1428_1429dupC p.Ser477fs Pathogenic 1 Lesca (2004)
52314600 Exon 10 Nonsense c.1435C>T p.Arg479X Pathogenic 9 Lesca (2004)
Abdalla (2004)
Letteboer (2005)
Abdalla (2005)
Lenato (2006)
Bossler (2006)
Olivieri (2006)
Yan(2006)
Gedge(2007)
ARUP Laboratories
52314601 Exon 10 Missense c.1436G>A p.Arg479Gln Pathogenic 4 Bayrak-Toydemir (2006)
Gedge(2007)
ARUP Laboratories
52314601 Exon 10 Missense c.1436G>C p.Arg479Pro Uncertain 1 ARUP Laboratories
52314601 Exon 10 Missense c.1436G>T p.Arg479Leu 1 Lesca (2004)  
52314603 Exon 10 Missense c.1438C>T p.Leu480Phe Uncertain 1 ARUP Laboratories
52314610 Exon 10 Missense c.1445C>T p.Ala482Val Benign 3 D'Abronzo (1999)
Lesca (2004)
Letteboer (2005)
ARUP Laboratories
52314610 Exon 10 Missense c.1450C>T p.Arg484Trp 5 Trembath (2001)
Lesca (2004)
Letteboer (2005)
Lenato (2006)
Pece-Barbara (1999)
ARUP Laboratories
 
52314615 Exon 10 Complex c.1450C>T1450_1451insG p.Arg484Trpfs Pathogenic 1 Abdalla (2004)
52314616 Exon 10 Missense c.1451G>A p.Arg484Gln Suspected Pathogenic 2 ARUP Laboratories
52314617 Exon 10 Missense c.1452G>A p.Arg484Arg 1 Prigoda (2006)  
52314617 Exon 10 Insertion/Frameshift c.1452insA p.Ile485fs Pathogenic 1 Bossler (2006)
52314625 Exon 10 Deletion/InFrame c.1460_1462delAGA p.487delLys Uncertain 2 Gedge (2007)
ARUP Laboratories
52314625 Exon 10 Missense c.1460A>C p.Lys487Thr 1 Harrison (2003)  
52314633 Exon 10 Nonsense c.1468C>T p.Gln490X Pathogenic 4 Pece-Barbara (1999)
Trembath (2001)
Lenato (2006)
El-Harith (2006)
52314640 Exon 10 Missense c.1475T>A p.Ile492Asn 1 Kjeldsen (2005)  
52314735 3'UTR Intronic SNV c.1512+58G>A Benign 2 ARUP Laboratories