BMPR2 Database

  • Reference sequences were NC_000002.11 and NM_001204.6. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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270 variants found

Genomic Position Location Mutation Type Published As Nucleotide Change Protein Change Classification References Comments
5'UTR Deletion/Insertion c.*-944/5GC-AT c.-944_-943delinsAT p.? Pathogenic Aldred (2007)
5' UTR 5' UTR substitution c.G-669A c.-669G>A p.? Pathogenic Wang (2009)
Exon 01-13 Deletion c.1-?_3117-?del ex1-13del p.0? Pathogenic Aldred (2006)
Exon 01-3 Deletion deletion ex1-3 ex1-3del p.? Pathogenic Girerd (2010)
Exon 01 Deletion c.?_IVS1del ex1del p.0? Pathogenic Machado (2001)
Exon 01-4 Deletion del Exon 01-4 ex1-4del p.? Pathogenic Sztrymf (2008)
Exon 01 Frameshift c.9_10dup p.Leu5fs Pathogenic Smith (unpublished)
Exon 01 Frameshift c.15_19delGCAGC c.15_19del p.Gln6fs Pathogenic Morisaki (2004)
Exon 01 Frameshift c.21_29delGCCCTGGCG
insA
c.21_29delinsA p.Pro8fs Pathogenic Machado (2006)  
Exon 01 Nonsense c.27G>A c.27G>A p.Trp9X Pathogenic Machado (2006)  
Exon 01 Missense c.28C>T c.28C>T p.Arg10Trp Uncertain Baloira (2008)
Exon 01 Nonsense c.39G>A p.Trp13X Pathogenic Hamid (2010)
Exon 01 Frameshift c.44delC c.44del p.Pro15fs Pathogenic Machado (2001)
Exon 01 Nonsense c.47G>A c.47G>A p.Trp16X Pathogenic Harrison (2004)
Exon 01 Nonsense c.48G>A c.48G>A p.Trp16X Pathogenic Sztrymf (2008)
Exon 01 Frameshift c.51-814 del c.51_814del p.Ile18fs Pathogenic Machado (2001)
Intron 01 Splice site c.76+2T>C p.? Pathogenic Smith (unpublished)
Intron 01 Intronic c.76+35delC p.? Uncertain dbSNP
Exon 02-13 Deletion c.77-?_3117-?del ex02-13del p.? Pathogenic Aldred (2006)
Exon 02 Deletion IVS1_IVS2del ex02del p.? Pathogenic Cogan (2006)
Exon 02-03 Deletion del Exon 02-3 ex02-03del p.? Pathogenic Rosenzweig (2008)
Exon 02 Duplication IVS1_IVS2dup ex02dup p.? Pathogenic Cogan (2006)
Exon 02 Synonymous c.84G>A c.84G>A p.= Benign Wang (2010)
Exon 02 Missense c.86A>G p.Asn29Ser Uncertain dbSNP
Exon 02 Nonsense c.91G>T c.91G>T p.Glu31X Pathogenic Koehler (2004)
Exon 02 Missense c.100T>C c.100T>C p.Cys34Arg Suspected Pathogenic Machado (2006)
Exon 02 Frameshift c.116delC c.116del p.Pro39fs Pathogenic Rosenzweig (2008)
Exon 02 Nonsense c.120T>G c.120T>G p.Tyr40X Pathogenic Machado (2006)
Exon 02 Nonsense c.124C>T c.124C>T p.Gln42X Pathogenic Fujiwara (2008)
Exon 02 Missense c.125A>G c.125A>G p.Gln42Arg Suspected Pathogenic Roberts (2004)
Exon 02 Missense c.140G>A c.140G>A p.Gly47Asp Suspected Pathogenic Roberts (2004)
Exon 02 Missense c.156-157delTC c.156_157del p.His53X Pathogenic Machado (2001)
Exon 02 Synonymous c.165T>C c.165T>C p.= Benign Morisaki (2004)
Exon 02 Frameshift c.166delG c.168del p.Thr57fs Pathogenic Machado (2006)  
Exon 02 Missense c.179G>A c.179G>A p.Cys60Tyr Suspected Pathogenic Thomson (2000)
Exon 02 In-frame deletion c.188-208del21 c.188_208del p.Ser64_Trp70del Pathogenic Machado (2006)
Exon 02 Missense c.196T>C c.196T>C p.Cys66Arg Pathogenic Cahn (2004)
Exon 02 Missense c.197G>A c.197G>A p.Cys66Tyr Pathogenic Machado (2006)
Exon 02 Missense c.200A>G c.200A>G p.Tyr67Cys Pathogenic Morisaki (2004)
Exon 02 Nonsense c.201T>G c.201T>G p.Tyr67X Pathogenic Rosenzweig (2008)
Exon 02 Missense c.203G>A c.203G>A p.Gly68Asp Pathogenic Machado (2006)
Exon 02 Nonsense c.218C>G c.218C>G p.Ser73X Pathogenic Lane (2000)
Exon 02 Insertion c.241insT c.240_241insT p.Lys81X Pathogenic Johri (2010)
Exon 02 Nonsense c.244C>T c.244C>T p.Gln82X Pathogenic Rindermann (2003)
Exon 02 Missense c.246A>C c.246A>C p.Gln82His Suspected Pathogenic Humbert (2002)
Exon 02 Missense c.247G>A c.247G>A p.Gly83Arg Pathogenic Sztrymf (2008)
Intron 02 Splice site c.247+1delGCAAGTG c.247+1_247+7del p.? Pathogenic Rosenzweig (2008)
Intron 02 Splice site IVS2 247+2delC c.247+2del p.? Pathogenic Cogan (2006)
Intron 02 Intronic IVS2 247+6T>G c.247+6T>G p.? Pathogenic Cogan (2006)
Exon 03 Insertion/Deletion c.-5-248delTATAGGinsAC c.248-5_248delinsAC p.? Pathogenic Rosenzweig (2008)
Exon 03 Deletion IVS2_IVS3_del ex03del p.? Pathogenic Cogan (2006)
Intron 02 Splice site c.248-1G>A c.248-1G>A p.? Pathogenic Machado (2006)
Exon 03 Nonsense c.255G>A c.255G>A p.Trp85X Pathogenic Machado (2006)
Exon 03 Nonsense c.274C>T c.274C>T p.Gln92X Pathogenic Machado (2006)
Exon 03 Missense c.276A>C c.276A>C p.Gln92His Benign Machado (2006)
Exon 03 Frameshift c.277insG c.277dup p.Glu93fs Pathogenic Cogan (2006)
Exon 03 Missense c.280T>C c.280T>C p.Cys94Arg Pathogenic Machado (2006)
Exon 03 Nonsense c.292G>T c.292G>T p.Glu98X Pathogenic Wang (2009)
Exon 03 Missense c.292G>A c.292G>A p.Glu98Lys Suspected Pathogenic Wang (2010)
Exon 03 Missense c.295T>C c.295T>C p.Cys99Arg Pathogenic Machado (2006)
Exon 03 Missense c.304A>G c.304A>G p.Thr102Ala Suspected Pathogenic Roberts (2004)
Exon 03 Missense c.319T>C c.319T>C p.Ser107Pro Suspected Pathogenic Roberts (2004)
Exon 03 Nonsense c.320C>G c.320C>G p.Ser107X Pathogenic Sztrymf (2008)
Exon 03 Nonsense c.339C>G c.339C>G p.Tyr113X Pathogenic Fujiwara (2008)
Exon 03 Nonsense c.339C>A c.339C>A p.Tyr113X Pathogenic Sztrymf (2008)
Exon 03 Missense c.350G>C c.350G>C p.Cys117Ser Pathogenic Machado (2006)
Exon 03 Missense c.350G>A c.350G>A p.Cys117Tyr Pathogenic Thomson (2000)
Exon 03 Missense c.353G>A c.353G>A p.Cys118Tyr Suspected Pathogenic Machado (2006)
Exon 03 Missense c.354T>G c.354T>G p.Cys118Trp Suspected Pathogenic Lane (2000)
Exon 03 Frameshift c.355delA c.355del p.Ser119fs Pathogenic Lane (2000)
Exon 03 Frameshift c.359_360delCA 359_360del p.Thr120fs Pathogenic Machado (2006)  
Exon 03 Missense c.367T>A c.367T>A p.Cys123Ser Pathogenic Machado (2001)
Exon 03 Missense c.367T>C c.367T>C p.Cys123Arg Pathogenic Machado (2001)
Exon 03 Missense c.370A>G c.370A>G p.Asn124Asp Pathogenic Sztrymf (2008)
Exon 03 Frameshift c.371dup c.371dup p.Asn124fs Pathogenic Girerd (2010)
Exon 03 Missense c.377A>G c.377A>G p.Asn126Ser Pathogenic Girerd (2010)
Exon 03 Frameshift c.407_408del c.407_408del p.Thr136fs Pathogenic Girerd (2010)  
Exon 03 Frameshift c.408_412delAACAC c.408_412del p.Pro138fs Pathogenic Girerd (2010)  
Intron 03 Deletion/Insertion c.418+2_418+4TAA>GAG c.418+2_418+4
delinsGAG
p.? Pathogenic Morisaki (2004)
Intron 03 Splice site c.418+3A>T c.418+3A>T p.? Pathogenic Machado (2006)
Intron 03 Intronic c.418+5G>A c.418+5G>A p.? Pathogenic Rosenzweig (2008)
Intron 03 Intronic c.420-38delT c.419-38del p.? Benign Machado (2006)
Exon 04-05 Deletion ex04-05del p.? Pathogenic Cogan (2005)
Exon 04-08 Duplication dup ex4-8 ex04-08dup p.? Pathogenic Girerd (2010)  
Exon 04 Deletion ex04del p.? Pathogenic Smith (unpublished)
Exon 04-07 Deletion ex04-07del p.? Pathogenic Smith (unpublished)
Exon 04 Nonsense c.439C>T c.439C>T p.Arg147X Pathogenic Machado (2001)
Exon 04 Frameshift c.449dup c.449dup p.Ile151fs Pathogenic Girerd (2010)  
Exon 04 Frameshift 504insT (504_505insT) c.505dup p.Cys169fs Pathogenic Machado (2001)
Exon 04 Nonsense c.507-510delCTTTinsAAA c.507_510delinsAAA p.Cys169X Pathogenic Deng (2000)
Exon 04 Nonsense c.507C>A c.507C>A p.Cys169X Pathogenic Machado (2006)  
Exon 04 Nonsense c.516C>G c.516C>G p.Tyr172X Pathogenic Cogan (2006)
Exon 04 Frameshift c.528delA c.528del p.Gly177fs Pathogenic Girerd (2010)
Exon 05-07 Deletion c.530-?_967+?del ex05-07del p.? Pathogenic Harrison (2004)
Exon 05 Missense c.545G>A c.545G>A p.Gly182Asp Suspected Pathogenic Humbert (2002)
Exon 05 Frameshift c.551_573del c.551_573del p.His184fs Pathogenic Sztrymf (2008)
Exon 05 Missense c.556A>G c.556A>G p.Met186Val Suspected Pathogenic Roberts (2004)
Exon 05 Nonsense c.583G>T c.583G>T p.Glu195X Pathogenic Sztrymf (2008)
Exon 05 Synonymous c.600A>C c.600A>C p.= Benign Sankelo (2005)
Exon 05 Missense c.604A>T c.604A>T p.Asn202Tyr Suspected Pathogenic Sztrymf (2008)
Exon 05 Frameshift c.608-609delTG c.608_609del p.Leu203fs Pathogenic Wang (2009)
Exon 05 Frameshift c.612delA c.612del p.Lys204fs Pathogenic Sztrymf (2008)
Intron 05 Intronic c.621+8T>C p.? Benign dbSNP
Intron 05 Intronic c.621+37C>G p.? Benign dbSNP
Intron 05 Intronic c.622-13A>T p.? Benign dbSNP
Exon 06 Deletion del ex6 ex06del p.? Pathogenic Girerd (2010)  
Exon 06 Nonsense c.631C>T c.631C>T p.Arg211X Pathogenic Thomson (2000)
Exon 06 Nonsense c.637C>T c.637C>T p.Arg213X Pathogenic Morisaki (2004)
Exon 06 Frameshift c.659dupG c.659dup p.Ser221fs Pathogenic Machado (2006)  
Exon 06 Frameshift c.664_665delTTinsAAGG c.664_665delinsAAGG p.Leu222fs Pathogenic Machado (2006)  
Exon 06 Missense c.672G>T c.672G>T p.Glu224Asp Benign Machado (2001)
Exon 06 Frameshift c.689_690del c.689_690del p.Lys230fs Pathogenic Machado (2001)
Exon 06 Frameshift c.690-691delAGinsT c.690_691delinsT p.Lys230fs Pathogenic Deng (2000)
Exon 06 Nonsense c.727G>T c.727G>T p.Glu243X Pathogenic Machado (2001)
Exon 06 Missense c.727G>A c.727G>A p.Glu243Lys Suspected Pathogenic Wang (2010)
Exon 06 Frameshift c.775delC c.775del p.Arg259fs Pathogenic Machado (2006)
Exon 06 Frameshift c.782_783del c.782_783del p.Ile261fs Pathogenic Girerd (2010)  
Exon 06 Frameshift c.787insT (786dupT) c.786dup p.Gly263fs Pathogenic Thomson (2000)
Exon 06 Frameshift c.790delG c.790del p.Asp264fs Pathogenic Machado (2006)  
Exon 06 Missense c.795G>T+c.796A>T c.795_796delinsTT p.Glu265_Arg266
delinsAsp265_X266
Pathogenic Smith (unpublished)
Exon 06 Frameshift c.796-799delAGAG c.796_799del p.Arg266fs Pathogenic Cogan (2006)
Exon 06 Missense c.797G>C c.797G>C p.Arg266Thr Suspected Pathogenic Machado (2006)
Exon 06 Frameshift c.802-803insA c.802dup p.Thr268fs Pathogenic Wang (2010)
Exon 06 Frameshift c.804delT c.804del p.Ala269fs Pathogenic Cogan (2006)
Exon 06 Missense c.818T>G c.818T>G p.Met273Arg Suspected Benign Machado (2006)
Exon 06 Missense c.830T>C c.830T>C p.Leu277Pro Pathogenic Sztrymf (2008)
Intron 06 Splice site c.852+1G>A c.852+1G>A p.? Pathogenic Girerd (2010)
Intron 06 Intronic c.853-22del p.? Benign dbSNP
Intron 06 Splice site c.853-2A>G c.853-2A>G p.? Pathogenic Machado (2006)
Intron 06 Splice site c.853-1G>C c.853-1G>C p.? Pathogenic Sztrymf (2008)
Exon 07 Duplication 853-?_967+?dup ex07dup p.? Pathogenic Aldred (2006)
Exon 07 Frameshift c.855delA c.855del p.Ser286fs Pathogenic Machado (2006)  
Exon 07 Nonsense c.860T>A c.860T>A p.Leu287X Pathogenic Machado (2006)  
Exon 07 Nonsense c.872delT c.872del p.Leu291X Pathogenic Cogan (2006)
Exon 07 Missense c.901T>C c.901T>C p.Ser301Pro Pathogenic Machado (2006)
Exon 07 Missense c.908G>A c.908G>A p.Arg303His Suspected Pathogenic Machado (2006)
Exon 07 Nonsense c.928A>T c.928A>T p.Arg310X Pathogenic Sztrymf (2008)
Exon 07 Missense c.937G>C c.937G>C p.Ala313Pro Suspected Pathogenic Machado (2006)  
Exon 07 Nonsense c.961C>T c.961C>T p.Arg321X Pathogenic Koehler (2004)
Exon 07 Splice site c.967_968insA c.967_967+1insA p.Asp323fs Pathogenic Machado (2006)
Intron 7 Splice site c.967+5G>T c.967+5G>T p.? Pathogenic Girerd (2010)
Intron 7 Splice site c.965-2A>C c.968-2A>C p.? Pathogenic Wang (2010)
Exon 08-09 Deletion 968-?_1276+?del ex08-09del p.? Pathogenic Aldred (2006)
Exon 08 Deletion del ex8 ex08del p.? Pathogenic Girerd (2010)  
Exon 08 Frameshift c.968_969insT c.969dup p.His324fs Pathogenic Elliott (2006)
Exon 08 Frameshift c.980delC c.980del p.Pro327fs Pathogenic Machado (2006)  
Exon 08 Nonsense c.994C>T c.994C>T p.Arg332X Pathogenic Thomson (2000)
Exon 08 Nonsense c.1001T>G c.1001T>G p.Leu334X Pathogenic Machado (2006)
Exon 08 Missense c.1019T>C c.1019T>C p.Leu340Pro Pathogenic Sztrymf (2008)
Exon 08 Missense c.1039T>C c.1039T>C p.Cys347Arg Suspected Pathogenic Machado (2006)  
Exon 08 Missense c.1040G>A c.1040G>A p.Cys347Tyr Suspected Pathogenic Machado (2006)  
Exon 08 Missense c.1042G>A c.1042G>A p.Val348Ile Pathogenic Lane (2000)
Exon 08 Missense c.1066A>T c.1066A>T p.Met356Leu Suspected Pathogenic Wang (2010)
Exon 08 Frameshift 1076delC c.1076del p.Thr359fs Pathogenic Machado (2001)
Exon 08 Frameshift c.1099-1103delGGGGA c.1099_1103del p.Glu368fs Pathogenic Deng (2000)
Exon 08 Synonymous 1107A>G c.1107A>G p.= Benign Machado (2001)
Exon 08 Frameshift c.1113_1114insT c.1113dup p.Ala372fs Pathogenic Elliott (2006)
Exon 08 Frameshift c.1113delT c.1113del p.Asn371fs Pathogenic Machado (2006)  
Exon 08 Nonsense c.1120delA c.1120del p.Ile374X Pathogenic Machado (2006)
Intron 08 Splice site c.1128+1G>A c.1128+1G>A p.? Pathogenic Machado (2006)  
Intron 08 Splice site c.IVS8+1G>T c.1128+1G>T p.? (p.Asp323_Pro425del) Pathogenic Rindermann (2003)
Intron 08 Splice site c.1129-3C>G c.1129-3C>G p.? (p.Val377fs) Pathogenic Machado (2001)
Exon 09 Nonsense c.1146T>G c.1146T>G p.Tyr382X Pathogenic Rosenzweig (2008)
Exon 09 Missense c.1156G>A c.1156G>A p.Glu386Lys Suspected Pathogenic Rosenzweig (2008)
Exon 09 Missense c.1157A>T c.1157A>T p.Glu386Val Pathogenic Fu (2008)
Exon 09 Missense c.1157A>G c.1157A>G p.Glu386Gly Uncertain Koehler (2004)
Exon 09 Missense c.1171G>A c.1171G>A p.Ala391Thr Pathogenic Sztrymf (2008)
Exon 09 Missense c.1175T>C c.1175T>C p.Val392Ala Suspected Pathogenic Wang (2010)
Exon 09 Nonsense c.1191/1192delTG c.1191_1192del p.Cys397X Pathogenic Machado (2001)
Exon 09 Nonsense c.1196C>G c.1196C>G p.Ser399X Pathogenic Machado (2006)  
Exon 09 Missense c.1202T>C c.1202T>C p.Leu401Ser Suspected Pathogenic Machado (2006)  
Exon 09 Nonsense c.1207C>T c.1207C>T p.Gln403X Pathogenic Uehara (2002)
Exon 09 Nonsense c.1241G>A c.1241G>A p.Trp414X Pathogenic Machado (2006)  
Exon 09 Nonsense c.1243G>T c.1243G>T p.Gly415X Pathogenic Wang (2010)
Exon 09 Frameshift c.1246_1247dupGA c.1245_1246dup p.Ile416fs Pathogenic Machado (2006)
Exon 09 Frameshift c.1246dupG c.1245dup p.Ile416fs Pathogenic Machado (2006)  
Exon 09 Frameshift c.1247/8insGA c.1247_1248insGA p.Ile416fs Pathogenic Thomson (2000)
Exon 09 Frameshift c.1248delA c.1248del p.Phe417fs Pathogenic Thomson (2000)
Exon 09 Nonsense c.1250_1253delTTAT c.1250_1253del p.Phe417X Pathogenic Machado (2006)
Exon 09 Missense c.1257A>T c.1257A>T p.Arg419Ser Suspected Pathogenic Machado (2006)  
Exon 09 Missense c.1258T>C c.1258T>C p.Cys420Arg Pathogenic Machado (2001)
Exon 09 Missense c.1259G>A c.1259G>A p.Cys420Tyr Pathogenic Morisaki (2004)
Exon 09 Frameshift c.1272insC c.1274dup p.Gly426fs Pathogenic Machado (2006)
Exon 09 Splice site c.1276+1G>A c.1276+1G>A p.? Pathogenic Rosenzweig (2008)
Intron 9 Splice site c.1276+3A>T c.1276+3A>T p.? Pathogenic Girerd (2010)
Intron 9 Splice site c.1276+3A>G c.1276+3A>G p.? Uncertain Machado (2006)  
Intron 9 Intronic c.1276+4A>G c.1276+4A>G p.? Uncertain Machado (2006)  
Intron 9 Splice site c.1277-9A>G c.1277-9A>G p.? Pathogenic Sztrymf (2008)
Exon 10 Deletion c.1277-?_1413+?del ex10del p.? Pathogenic Cogan (2005)
Exon 10 Frameshift c.1279del p.Glu427fs Pathogenic Smith (unpublished)
Exon 10 Nonsense c.1297C>T c.1297C>T p.Gln433X Pathogenic Rigelsky (2008)
Exon 10 Frameshift c.1313-1316delCAGA c.1313_1316del p.Thr438fs Pathogenic Koehler (2004)
Exon 10 Missense c.1346T>G c.1346T>G p.Met449Arg Pathogenic Cogan (2006)
Exon 10 Nonsense c.1348C>T c.1348C>T p.Gln450X Pathogenic Koehler (2004)
Exon 10 Frameshift c.1366delinsCA c.1366delinsCA p.Glu456fs Pathogenic Girerd (2010)
Exon 10 Frameshift c.1375_1376delAG c.1375_1376del p.Arg459fs Pathogenic Morisaki (2004)
Exon 10 Frameshift c.1376_1377delGA c.1376_1377del p.Arg459fs Suspected Pathogenic Sankelo (2005)
Exon 10 Frameshift c.1388-1389insA c.1389dup p.Glu464fs Pathogenic Koehler (2004)
Exon 10 Frameshift c.1392delA c.1392del p.Ala465fs Pathogenic Sztrymf (2008)
Exon 10 Nonsense c.1397G>A c.1397G>A p.Trp466X Pathogenic Koehler (2004)
Exon 10 Frameshift c.1399delA c.1401del p.Glu468fs Pathogenic Machado (2006)
Intron 10 Splice site c.1413+1G>A c.1413+1G>A p.? Pathogenic Girerd (2010)
Intron 10 Intronic c.IVS10+3A>T c.1413+3A>T p.? Pathogenic Koehler (2004)
Intron 10 Intronic c.1414-37delT c.1414-37del p.? Benign Machado (2006)
Intron 10 Splice site c.1414-2A>T c.1414-2A>T p.? Pathogenic Machado (2006)
Exon 11-13 Deletion c.1414-?-c.3117+?del ex11-13del p.? Pathogenic Aldred (2006)
Exon 11-12 Deletion c.1414-?_2866+?del ex11-12del p.? Pathogenic Machado (2001)
Exon 11 Nonsense c.1424C>A c.1424C>A p.Ser475X Pathogenic Machado (2006)
Exon 11 Frameshift c.1426delT c.1427del p.Leu476fs Pathogenic Machado (2006)  
Exon 11 Missense c.1447T>C c.1447T>C p.Cys483Arg Pathogenic Thomson (2000)
Exon 11 Missense c.1454A>G c.1454A>G p.Asp485Gly Pathogenic Lane (2000)
Exon 11 Missense c.1469C>T c.1469C>T p.Ala490Val Pathogenic Machado (2006)
Exon 11 Missense c.1471C>T c.1471C>T p.Arg491Trp Pathogenic Deng (2000)
Exon 11 Missense c.1472G>A c.1472G>A p.Arg491Gln Suspected Pathogenic Deng (2000)
Exon 11 Missense c.1481C>T p.Ala494Val Uncertain dbSNP
Exon 11 Nonsense c.1483C>T c.1483C>T p.Gln495X Pathogenic Koehler (2004)
Exon 11 Missense c.1487G>A c.1487G>A p.Cys496Tyr Suspected Pathogenic Machado (2006)  
Exon 11 Missense c.1509A>C c.1509A>C p.Glu503Asp Suspected Pathogenic Roberts (2004)
Exon 11 Missense not given c.1535A>C p.Lys512Thr Pathogenic Machado (2001)
Exon 11 Synonymous c.1545C>T c.1545C>T p.= Benign Machado (2006)
Exon 11 Frameshift c.1585delC c.1585del p.Arg529fs Pathogenic Machado (2006)  
Exon 12 Deletion c.del3' ex12del p.? Pathogenic Machado (2001)
Exon 12 Deletion c.del3' ex12del p.? Pathogenic Trembath (2001)
Exon 12 Missense c.1687G>A c.1687G>A p.Val563Met Suspected Pathogenic Machado (2006)  
Exon 12 Nonsense c.1750C>T c.1750C>T p.Arg584X Pathogenic Machado (2001)
Exon 12 Missense c.1766A>G p.Tyr589Cys Pathogenic Moller (2010)
Exon 12 Nonsense c.1771C>T c.1771C>T p.Arg591X Pathogenic Sztrymf (2008)
Exon 12 Nonsense c.1789C>T p.Arg597X Pathogenic Smith (unpublished)
Exon 12 Missense c.1937C>G c.1937C>G p.Ala646Gly Benign Morisaki (2004)
Exon 12 Frameshift c.1954_1955dup c.1954_1955dup p.Val654fs Pathogenic Sugiyama (2004)
Exon 12 Frameshift c.1969insA c.1968dup p.Gln657fs Pathogenic Thomson (2000)
Exon 12 Missense c.2032A>G p.Lys678Glu Uncertain dbSNP
Exon 12 Missense c.2084G>T p.Gly659Val Uncertain dbSNP
Exon 12 Nonsense c.2124C>G c.2124C>G p.Tyr708X Pathogenic Morisaki (2004)
Exon 12 Frameshift c.2292dupA c.2291dup p.Asn764fs Pathogenic Machado (2001)
Exon 12 Frameshift c.2305delC c.2308del p.Arg770fs Pathogenic Rosenzweig (2008)
Exon 12 Synonymous c.2322G>A c.2322G>A p.= Benign Elliott (2006)
Exon 12 Missense c.2324G>A c.2324G>A p.Ser775Asn Benign Machado (2006)
Exon 12 Synonymous c.2379A>C c.2379A>C p.= Benign Morisaki (2004)
Exon 12 Frameshift c.2386delG c.2386del p.Ala796fs Pathogenic Thomson (2000)
Exon 12 Frameshift c.2408insTG c.2408_2409insTG p.Val804fs Pathogenic Machado (2001)
Exon 12 Frameshift c.2410_2413delGTCA c.2410_2413del p.Val804fs Pathogenic Rosenzweig (2008)
Exon 12 Missense c.2482G>A c.2482G>A p.Gly828Arg Uncertain dbSNP
Exon 12 Frameshift c.2504delC c.2504del p.Thr835fs Suspected Pathogenic Cogan (2006)
Exon 12 Missense c.2506_2522del17 c.2506_2522del p.Thr836X Pathogenic Machado (2006)  
Exon 12 Frameshift c.2521_2522dupCA c.2521_2522dup p.Arg842fs Pathogenic Sztrymf (2008)
Exon 12 Duplication c.2521_2522dupCA c.2521_2522dup p.Arg842fs Pathogenic Sztrymf (2008)
Exon 12 Frameshift c.2527delG c.2527del p.Ala843fs Pathogenic Machado (2006)
Exon 12 Missense c.2531A>G c.2531A>G p.Gln844Arg Suspected Benign Morisaki (2004)
Exon 12 Frameshift c.2579delT c.2580del p.Asn861fs Pathogenic Lane (2000)
Exon 12 Missense c.2588G>A c.2588G>A p.Ser863Asn Suspected Pathogenic Wang (2009)
Exon 12 Nonsense c.2617C>T c.2617C>T p.Arg873X Pathogenic Deng (2000)
Exon 12 Missense c.2618G>A c.2618G>A p.Arg873Gln Pathogenic Sztrymf (2008)
Exon 12 Nonsense c.2620G>T c.2620G>T p.Glu874X Pathogenic Morisaki (2004)
Exon 12 Missense c.2656C>T c.2656C>T p.Arg886Cys Suspected Benign dbSNP
Exon 12 Missense c.2657G>A c.2657G>A p.Arg886His Benign Machado (2006)
Exon 12 Nonsense c.2695C>T c.2695C>T p.Arg899X Pathogenic Lane (2000)
Exon 12 Missense c.2696G>C c.2696G>C p.Arg899Pro Pathogenic Machado (2003)
Exon 12 Frameshift c.2705delC c.2706del p.Asn903fs Suspected Pathogenic Abramowicz (2003)
Exon 12 Missense c.2708A>G c.2708A>G p.Asn903Ser Suspected Pathogenic Machado (2006)  
Exon 12 Synonymous c.2748T>C p.= Benign dbSNP
Exon 12 Synonymous c.2757T>G p.= Benign dbSNP
Exon 12 Nonsense c.2789C>G c.2789C>G p.Ser930X Pathogenic Morisaki (2004)
Exon 12 Missense c.2811G>C p.Arg937Ser Suspected Benign dbSNP
Exon 12 Synonymous c.2811G>A c.2811G>A p.= Benign Deng (2000)
Intron 12 Intronic c.2866+39T>C p.? Benign dbSNP
Intron 12 Intronic c.2867-29A>T p.? Benign dbSNP
Exon 013 Missense c.2887G>T p.Gly963Cys Uncertain dbSNP
Exon 013 Missense c.2948G>A c.2948G>A p.Arg983Gln Uncertain Morse (2002)
Exon 013 Synonymous c.2961C>T p.= Benign dbSNP