BBS9 — 1243 ClinVar variants

Pathogenic 58

• c.263+1G>T Multiple submitters inherited retinal dystrophy
• p.Ala670fs Multiple submitters BBS9-related disorder
• p.Arg149Ter Multiple submitters Bardet-Biedl syndrome 9
• p.Arg683fs Multiple submitters Bardet-Biedl syndrome 4
• p.Arg75Ter Multiple submitters BBS9-related disorder
• p.Gln120Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln355Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln597Ter Multiple submitters BBS9-related disorder
• p.Gln64Ter Multiple submitters BBS9-related disorder
• p.Gln672Ter Multiple submitters Bardet-Biedl syndrome 9
• p.Gly145fs Multiple submitters Bardet-Biedl syndrome 9
• p.Lys626fs Multiple submitters BBS9-related disorder
• c.(1552+1_1553-1 Single submitter inherited retinal dystrophy
• c.1789+1G>T Single submitter Bardet-Biedl syndrome
• c.621_702+3del Single submitter Bardet-Biedl syndrome
• c.702+1G>A Single submitter Bardet-Biedl syndrome 9
• c.(?_-1 Single submitter Bardet-Biedl syndrome
• p.Ala675fs Single submitter Bardet-Biedl syndrome
• p.Arg449fs Single submitter Bardet-Biedl syndrome
• p.Asp394_Val395insTer Single submitter Bardet-Biedl syndrome 9
• p.Asp700fs Single submitter Bardet-Biedl syndrome
• p.Cys136Ter Single submitter Bardet-Biedl syndrome
• p.Cys153Ter Single submitter Bardet-Biedl syndrome
• p.Cys270fs Single submitter Bardet-Biedl syndrome
• p.Cys783Ter Single submitter Bardet-Biedl syndrome 9
• p.Gln255Ter Single submitter Bardet-Biedl syndrome
• p.Gln399Ter Single submitter Bardet-Biedl syndrome
• p.Gln807Ter Single submitter Bardet-Biedl syndrome
• p.Glu243Gly Single submitter BBS9-related disorder
• p.Glu790Ter Single submitter Bardet-Biedl syndrome
• p.Glu82fs Single submitter Bardet-Biedl syndrome
• p.Glu853fs Single submitter Bardet-Biedl syndrome
• p.Gly343Ter Single submitter Bardet-Biedl syndrome
• p.Ile277fs Single submitter Bardet-Biedl syndrome
• p.Ile391fs Single submitter
• p.Ile846fs Single submitter Bardet-Biedl syndrome
• p.Leu655fs Single submitter
• p.Lys397fs Single submitter Bardet-Biedl syndrome 9
• p.Met280fs Single submitter Bardet-Biedl syndrome
• p.Pro330fs Single submitter Bardet-Biedl syndrome
• p.Ser107fs Single submitter Bardet-Biedl syndrome
• p.Ser252fs Single submitter Bardet-Biedl syndrome
• p.Ser667fs Single submitter Bardet-Biedl syndrome
• p.Ser88Ter Single submitter Bardet-Biedl syndrome
• p.Thr300delinsTyrPheAspTrpLysTer Single submitter Bardet-Biedl syndrome
• p.Trp741_Gln742delinsCysTer Single submitter Bardet-Biedl syndrome
• p.Trp9Ter Single submitter Bardet-Biedl syndrome
• p.Val251fs Single submitter Bardet-Biedl syndrome
• p.Val749fs Single submitter Bardet-Biedl syndrome
• c.104_112+4del No assertion criteria Bardet-Biedl syndrome 9
• c.113-2A>G No assertion criteria Bardet-Biedl syndrome
• c.1198+1G>A No assertion criteria BBS9-related disorder
• c.(443-1675_443-1116 No assertion criteria Bardet-Biedl syndrome 9
• p.Glu243Lys No assertion criteria Bardet-Biedl syndrome
• p.Leu766Ter No assertion criteria Bardet-Biedl syndrome 9
• p.Pro181Arg No assertion criteria Bardet-Biedl syndrome 9
• p.Ser142Ter No assertion criteria inherited retinal dystrophy
• p.Thr319fs No assertion criteria Bardet-Biedl syndrome

Pathogenic/Likely pathogenic 29

• c.1277_1280delAAGC Multiple submitters BBS9-related disorder
• c.1693+1G>A Multiple submitters Bardet-Biedl syndrome
• c.1789+1G>A Multiple submitters Bardet-Biedl syndrome
• c.1789+1G>C Multiple submitters Bardet-Biedl syndrome
• c.263+1G>A Multiple submitters BBS9-related disorder
• c.442+1G>C Multiple submitters BBS9-related disorder
• p.Arg278Ter Multiple submitters Bardet-Biedl syndrome 9
• p.Arg374Ter Multiple submitters BBS9-related disorder
• p.Arg514Ter Multiple submitters Bardet-Biedl syndrome
• p.Arg521Ter Multiple submitters BBS9-related disorder
• p.Arg587Ter Multiple submitters BBS9-related disorder
• p.Arg598Ter Multiple submitters Bardet-Biedl syndrome
• p.Asp284_Trp285insTer Multiple submitters Bardet-Biedl syndrome
• p.Cys104fs Multiple submitters BBS9-related disorder
• p.Gln367Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln835fs Multiple submitters Bardet-Biedl syndrome
• p.Glu380Ter Multiple submitters Bardet-Biedl syndrome 9
• p.Glu475Ter Multiple submitters Bardet-Biedl syndrome
• p.Glu604fs Multiple submitters Bardet-Biedl syndrome
• p.Glu66Ter Multiple submitters Bardet-Biedl syndrome 9
• p.Ile392fs Multiple submitters Bardet-Biedl syndrome
• p.Leu341Ter Multiple submitters BBS9-related disorder
• p.Leu457Ter Multiple submitters BBS9-related disorder
• p.Leu662Ter Multiple submitters Bardet-Biedl syndrome
• p.Lys492Ter Multiple submitters Bardet-Biedl syndrome
• p.Lys542Ter Multiple submitters Bardet-Biedl syndrome
• p.Thr428fs Multiple submitters Bardet-Biedl syndrome
• p.Trp322Ter Multiple submitters Bardet-Biedl syndrome 9
• p.Val72fs Multiple submitters Bardet-Biedl syndrome 9

Likely pathogenic 75

• c.1329+1738C>T Multiple submitters Bardet-Biedl syndrome
• c.1552+2T>A Multiple submitters Bardet-Biedl syndrome 9
• c.2299-2A>C Multiple submitters Bardet-Biedl syndrome
• c.2521+1G>T Multiple submitters Bardet-Biedl syndrome
• p.Gly43fs Multiple submitters BBS9-related disorder
• c.1016+1G>C Single submitter Bardet-Biedl syndrome
• c.1017-2A>G Single submitter BBS9-related disorder
• c.113-1G>A Single submitter Bardet-Biedl syndrome
• c.1199-1G>A Single submitter Bardet-Biedl syndrome 9
• c.1275+1G>A Single submitter Bardet-Biedl syndrome 9
• c.1329+1G>A Single submitter BBS9-related disorder
• c.1330-2A>G Single submitter Bardet-Biedl syndrome 9
• c.1432+2T>G Single submitter Bardet-Biedl syndrome 9
• c.1433-2A>G Single submitter Bardet-Biedl syndrome
• c.1553-1G>A Single submitter Bardet-Biedl syndrome 9
• c.1694-2A>G Single submitter Bardet-Biedl syndrome 9
• c.1790-2A>T Single submitter Bardet-Biedl syndrome 9
• c.1963-1G>T Single submitter Bardet-Biedl syndrome 9
• c.2115+1G>A Single submitter Bardet-Biedl syndrome
• c.2115+21712_2521+234del Single submitter Bardet-Biedl syndrome 9
• c.2116-2A>T Single submitter Bardet-Biedl syndrome 9
• c.2522-1G>A Single submitter Bardet-Biedl syndrome 9
• c.2522-1G>C Single submitter Bardet-Biedl syndrome
• c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC Single submitter Bardet-Biedl syndrome
• c.328+1G>C Single submitter BBS9-related disorder
• c.328+2T>A Single submitter BBS9-related disorder
• c.702+1G>T Single submitter Bardet-Biedl syndrome
• c.703-1G>A Single submitter Bardet-Biedl syndrome
• c.703-1G>C Single submitter Bardet-Biedl syndrome
• c.703-2A>G Single submitter Bardet-Biedl syndrome
• p.Ala750Gly Single submitter retinal disorder ⚠
• p.Arg101fs Single submitter Bardet-Biedl syndrome 9
• p.Arg587fs Single submitter Bardet-Biedl syndrome 9
• p.Asp409fs Single submitter BBS9-related disorder
• p.Cys356Ter Single submitter BBS9-related disorder
• p.Gln120fs Single submitter Bardet-Biedl syndrome 9
• p.Gln166Ter Single submitter Bardet-Biedl syndrome 9
• p.Gln220Ter Single submitter
• p.Gln569Ter Single submitter Bardet-Biedl syndrome 9
• p.Gln574Ter Single submitter Bardet-Biedl syndrome 9
• p.Gln643Ter Single submitter Bardet-Biedl syndrome 9
• p.Gln677Ter Single submitter Bardet-Biedl syndrome 9
• p.Gln705Ter Single submitter Bardet-Biedl syndrome 9
• p.Glu265Ter Single submitter Bardet-Biedl syndrome 9
• p.Glu604Ter Single submitter Bardet-Biedl syndrome 9
• p.Glu654Ter Single submitter Bardet-Biedl syndrome 9
• p.Glu664Ter Single submitter Bardet-Biedl syndrome 9
• p.Gly141Arg Single submitter Bardet-Biedl syndrome
• p.Gly182fs Single submitter Bardet-Biedl syndrome 9
• p.Gly718fs Single submitter Bardet-Biedl syndrome 9
• p.Leu227fs Single submitter Bardet-Biedl syndrome 9
• p.Leu452fs Single submitter BBS9-related disorder
• p.Lys342Ter Single submitter BBS9-related disorder
• p.Lys39_Ile40insTer Single submitter Bardet-Biedl syndrome 9
• p.Lys810fs Single submitter Bardet-Biedl syndrome 9
• p.Pro438fs Single submitter Bardet-Biedl syndrome 9
• p.Pro847fs Single submitter
• p.Ser398Ter Single submitter Bardet-Biedl syndrome 9
• p.Ser570fs Single submitter BBS9-related disorder
• p.Ser635fs Single submitter Bardet-Biedl syndrome 9
• p.Ser806fs Single submitter Bardet-Biedl syndrome 9
• p.Ser855Ter Single submitter Bardet-Biedl syndrome 9
• p.Thr496fs Single submitter Bardet-Biedl syndrome 9
• p.Trp285Ter Single submitter BBS9-related disorder
• p.Trp741Ter Single submitter Bardet-Biedl syndrome 9
• p.Trp768Ter Single submitter Bardet-Biedl syndrome 9
• p.Tyr490fs Single submitter Bardet-Biedl syndrome 9
• p.Tyr623Ter Single submitter Bardet-Biedl syndrome 9
• p.Val115delinsGlyThrLeu Single submitter BBS9-related disorder
• p.Val30Asp Single submitter Bardet-Biedl syndrome
• p.Val333_Arg334insTer Single submitter Bardet-Biedl syndrome 9
• c.2116-1G>A No assertion criteria BBS9-related disorder
• p.Cys535Tyr No assertion criteria Bardet-Biedl syndrome 9
• p.Lys39Glu No assertion criteria retinitis pigmentosa
• p.Val262Ala No assertion criteria Bardet-Biedl syndrome 9

Conflicting classifications of pathogenicity 42

• c.1330-10G>T Single submitter Bardet-Biedl syndrome 9
• c.1537+14C>T Single submitter Bardet-Biedl syndrome
• c.1538-9G>T Single submitter Bardet-Biedl syndrome
• c.1553-11T>C Single submitter Bardet-Biedl syndrome
• c.2115+20_2115+21del Single submitter Bardet-Biedl syndrome
• c.263+4A>G Single submitter BBS9-related disorder
• c.328+20A>G Single submitter Bardet-Biedl syndrome
• c.329-7dup Single submitter Bardet-Biedl syndrome
• c.443-8T>C Single submitter Bardet-Biedl syndrome
• c.886+7A>G Single submitter Bardet-Biedl syndrome
• p.Ala257= Single submitter Bardet-Biedl syndrome
• p.Ala427Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala690= Single submitter Bardet-Biedl syndrome
• p.Arg587Gln Single submitter BBS9-related ciliopathy ⚠
• p.Asn254Ser Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Asn412= Single submitter Bardet-Biedl syndrome
• p.Gln355= Single submitter Bardet-Biedl syndrome
• p.Glu753Val Single submitter Inborn genetic diseases
• p.Glu765Gly Single submitter Bardet-Biedl syndrome 9 ⚠
• p.His313Arg Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Ile451fs Single submitter Bardet-Biedl syndrome 9
• p.Ile640Val Single submitter Inborn genetic diseases ⚠
• p.Ile846= Single submitter Bardet-Biedl syndrome
• p.Leu312= Single submitter Bardet-Biedl syndrome
• p.Leu436= Single submitter Bardet-Biedl syndrome
• p.Leu665Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu737= Single submitter Bardet-Biedl syndrome
• p.Leu779Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Leu882= Single submitter Bardet-Biedl syndrome
• p.Phe269del Single submitter Bardet-Biedl syndrome
• p.Pro537= Single submitter Bardet-Biedl syndrome
• p.Pro556= Single submitter Bardet-Biedl syndrome 9
• p.Pro641= Single submitter Bardet-Biedl syndrome
• p.Pro875Ser Single submitter Inborn genetic diseases ⚠
• p.Ser229= Single submitter Bardet-Biedl syndrome
• p.Ser256Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ser788Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Ser820= Single submitter Bardet-Biedl syndrome 9
• p.Thr441= Single submitter Bardet-Biedl syndrome
• p.Thr702Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Thr865Ala Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Val146Ile Single submitter BBS9-related disorder ⚠

Benign 58

• c.1017-6T>C Multiple submitters Bardet-Biedl syndrome
• c.1275+13G>T Multiple submitters Bardet-Biedl syndrome 9
• c.1330-62C>T Multiple submitters Bardet-Biedl syndrome 9
• c.1432+47T>A Multiple submitters
• c.263+39A>G Multiple submitters Bardet-Biedl syndrome 9
• c.328+22G>A Multiple submitters
• c.*103T>C Multiple submitters Bardet-Biedl syndrome 9
• c.*110C>T Multiple submitters Bardet-Biedl syndrome 9
• c.*138A>C Multiple submitters Bardet-Biedl syndrome 9
• p.Pro516Thr Multiple submitters Bardet-Biedl syndrome 9
• p.Thr12Ala Multiple submitters Bardet-Biedl syndrome 9
• c.112+106C>G Single submitter
• c.112+234C>T Single submitter
• c.112+341A>G Single submitter
• c.112+352_112+354del Single submitter
• c.112+89T>G Single submitter
• c.112+90T>A Single submitter
• c.113-147T>C Single submitter
• c.1275+28G>T Single submitter
• c.1275+88T>C Single submitter
• c.1329+1606C>T Single submitter Bardet-Biedl syndrome 9
• c.1432+328C>T Single submitter
• c.1433-328C>A Single submitter
• c.1537+154G>A Single submitter
• c.1537+159A>T Single submitter
• c.1537+204T>A Single submitter
• c.1538-91A>G Single submitter
• c.1553-102G>A Single submitter
• c.1789+250G>C Single submitter
• c.1790-8del Single submitter Bardet-Biedl syndrome
• c.1790-8dup Single submitter Bardet-Biedl syndrome
• c.2116-177dup Single submitter
• c.2299-350A>G Single submitter
• c.263+128G>T Single submitter
• c.263+137C>T Single submitter
• c.2633-5dup Single submitter Bardet-Biedl syndrome
• c.264-131G>A Single submitter
• c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT Single submitter Bardet-Biedl syndrome
• c.328+15dup Single submitter Bardet-Biedl syndrome
• c.328+212T>C Single submitter
• c.328+246G>C Single submitter
• c.329-7del Single submitter Bardet-Biedl syndrome
• c.442+13dup Single submitter Bardet-Biedl syndrome
• c.618-54T>G Single submitter
• c.702+121A>G Single submitter
• c.702+232T>C Single submitter
• c.702+33A>G Single submitter
• c.703-139del Single submitter
• c.886+219A>C Single submitter
• c.-11-245T>C Single submitter
• c.-12+7T>C Single submitter Bardet-Biedl syndrome 9
• c.-259G>A Single submitter Bardet-Biedl syndrome 9
• c.-407C>G Single submitter Bardet-Biedl syndrome 9
• c.-429G>C Single submitter Bardet-Biedl syndrome 9
• c.*371G>A Single submitter Bardet-Biedl syndrome 9
• c.*453C>G Single submitter Bardet-Biedl syndrome 9
• c.*549A>G Single submitter Bardet-Biedl syndrome 9
• p.Glu886Lys Single submitter

Benign/Likely benign 23

• c.1276-17C>T Multiple submitters Bardet-Biedl syndrome
• c.1432+7T>G Multiple submitters Bardet-Biedl syndrome
• c.1694-6T>C Multiple submitters Bardet-Biedl syndrome
• c.2116-20G>A Multiple submitters Bardet-Biedl syndrome
• c.2299-20A>C Multiple submitters Bardet-Biedl syndrome
• c.2632+9C>A Multiple submitters Bardet-Biedl syndrome
• c.702+15dup Multiple submitters Bardet-Biedl syndrome
• p.Ala455Thr Multiple submitters Bardet-Biedl syndrome 1
• p.Ala739Val Multiple submitters Bardet-Biedl syndrome
• p.Arg521Gln Multiple submitters Bardet-Biedl syndrome
• p.Arg824Cys Multiple submitters Bardet-Biedl syndrome
• p.Asn130= Multiple submitters Bardet-Biedl syndrome 9
• p.Asn370= Multiple submitters Bardet-Biedl syndrome
• p.Asp696Asn Multiple submitters Bardet-Biedl syndrome
• p.Gly343= Multiple submitters Bardet-Biedl syndrome
• p.Ile550Val Multiple submitters Bardet-Biedl syndrome
• p.Ile617Leu Multiple submitters Bardet-Biedl syndrome 9
• p.Leu740= Multiple submitters Bardet-Biedl syndrome
• p.Lys226= Multiple submitters Bardet-Biedl syndrome 9
• p.Thr428= Multiple submitters Bardet-Biedl syndrome 9
• p.Thr549Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr90= Multiple submitters Bardet-Biedl syndrome
• p.Val416Met Multiple submitters Bardet-Biedl syndrome 1

Likely benign 480

Showing the top 300 by review status; the full set is in the sitemap.

• c.1016+13A>G Multiple submitters Bardet-Biedl syndrome
• c.1016+8A>G Multiple submitters Bardet-Biedl syndrome
• c.112+21_112+22del Multiple submitters Bardet-Biedl syndrome
• c.1198+13C>T Multiple submitters Bardet-Biedl syndrome
• c.1432+12G>C Multiple submitters Bardet-Biedl syndrome
• c.1790-16A>G Multiple submitters Bardet-Biedl syndrome
• c.1790-17T>C Multiple submitters Bardet-Biedl syndrome
• c.1790-7C>T Multiple submitters Bardet-Biedl syndrome
• c.1963-11A>G Multiple submitters Bardet-Biedl syndrome
• c.2115+17dup Multiple submitters Bardet-Biedl syndrome 9
• c.2115+19A>G Multiple submitters Bardet-Biedl syndrome 9
• c.2115+20C>T Multiple submitters Bardet-Biedl syndrome 9
• c.2116-4G>T Multiple submitters Bardet-Biedl syndrome
• c.2299-12T>C Multiple submitters Bardet-Biedl syndrome
• c.2521+16A>G Multiple submitters Bardet-Biedl syndrome
• c.263+13A>T Multiple submitters Bardet-Biedl syndrome
• c.2633-15T>C Multiple submitters Bardet-Biedl syndrome
• c.264-14T>C Multiple submitters Bardet-Biedl syndrome
• c.328+16_328+27del Multiple submitters Bardet-Biedl syndrome
• c.328+18C>T Multiple submitters Bardet-Biedl syndrome
• c.442+7T>G Multiple submitters Bardet-Biedl syndrome
• c.617+11A>T Multiple submitters Bardet-Biedl syndrome
• c.886+14T>G Multiple submitters Bardet-Biedl syndrome 9
• c.887-7C>T Multiple submitters Bardet-Biedl syndrome
• p.Ala65= Multiple submitters Bardet-Biedl syndrome
• p.Ala739= Multiple submitters Bardet-Biedl syndrome
• p.Ala754= Multiple submitters Bardet-Biedl syndrome
• p.Ala774= Multiple submitters Bardet-Biedl syndrome
• p.Ala833= Multiple submitters Bardet-Biedl syndrome
• p.Arg173= Multiple submitters Bardet-Biedl syndrome
• p.Arg674= Multiple submitters Bardet-Biedl syndrome
• p.Asp429= Multiple submitters Bardet-Biedl syndrome
• p.Asp435= Multiple submitters Bardet-Biedl syndrome
• p.Asp747= Multiple submitters Bardet-Biedl syndrome
• p.Cys816= Multiple submitters Bardet-Biedl syndrome
• p.Gly177= Multiple submitters Bardet-Biedl syndrome 9
• p.Leu348= Multiple submitters Bardet-Biedl syndrome
• p.Leu531= Multiple submitters Bardet-Biedl syndrome
• p.Leu757= Multiple submitters Bardet-Biedl syndrome
• p.Pro520= Multiple submitters Bardet-Biedl syndrome 9
• p.Pro758= Multiple submitters Bardet-Biedl syndrome
• p.Ser488= Multiple submitters Bardet-Biedl syndrome 9
• p.Ser593= Multiple submitters Bardet-Biedl syndrome
• p.Ser886= Multiple submitters Bardet-Biedl syndrome
• p.Thr222= Multiple submitters Bardet-Biedl syndrome
• p.Thr589= Multiple submitters Bardet-Biedl syndrome
• p.Thr771= Multiple submitters Bardet-Biedl syndrome 9
• p.Thr829= Multiple submitters Bardet-Biedl syndrome 9
• p.Tyr207= Multiple submitters Bardet-Biedl syndrome 9
• p.Val459= Multiple submitters Bardet-Biedl syndrome
• c.1016+19C>T Single submitter Bardet-Biedl syndrome
• c.1016+20A>G Single submitter Bardet-Biedl syndrome
• c.1016+7del Single submitter Bardet-Biedl syndrome
• c.1016+8A>C Single submitter Bardet-Biedl syndrome
• c.1016+8A>T Single submitter Bardet-Biedl syndrome
• c.1016+9T>C Single submitter Bardet-Biedl syndrome
• c.1017-14C>T Single submitter Bardet-Biedl syndrome
• c.1017-22175T>A Single submitter
• c.1017-4G>T Single submitter Bardet-Biedl syndrome
• c.112+11T>G Single submitter Bardet-Biedl syndrome
• c.112+13C>A Single submitter Bardet-Biedl syndrome
• c.112+18A>G Single submitter Bardet-Biedl syndrome
• c.112+19T>A Single submitter Bardet-Biedl syndrome
• c.113-13A>T Single submitter Bardet-Biedl syndrome
• c.113-14T>A Single submitter Bardet-Biedl syndrome
• c.113-17_113-16insG Single submitter Bardet-Biedl syndrome
• c.113-20T>A Single submitter
• c.113-6C>T Single submitter
• c.113-8C>T Single submitter
• c.113-9T>C Single submitter Bardet-Biedl syndrome
• c.1198+11T>C Single submitter Bardet-Biedl syndrome
• c.1198+12G>T Single submitter Bardet-Biedl syndrome
• c.1198+14A>T Single submitter Bardet-Biedl syndrome
• c.1198+15G>T Single submitter Bardet-Biedl syndrome
• c.1198+16C>G Single submitter Bardet-Biedl syndrome
• c.1198+8A>T Single submitter Bardet-Biedl syndrome
• c.1198+9T>C Single submitter Bardet-Biedl syndrome
• c.1199-12T>C Single submitter Bardet-Biedl syndrome
• c.1199-4A>C Single submitter Bardet-Biedl syndrome
• c.1275+19T>A Single submitter Bardet-Biedl syndrome
• c.1276-10G>T Single submitter Bardet-Biedl syndrome
• c.1276-15del Single submitter Bardet-Biedl syndrome
• c.1329+11A>G Single submitter Bardet-Biedl syndrome
• c.1329+14T>A Single submitter Bardet-Biedl syndrome
• c.1329+9C>A Single submitter Bardet-Biedl syndrome
• c.1330-17A>G Single submitter Bardet-Biedl syndrome
• c.1330-18_1330-16del Single submitter Bardet-Biedl syndrome
• c.1330-18C>A Single submitter Bardet-Biedl syndrome
• c.1330-19A>G Single submitter Bardet-Biedl syndrome
• c.1330-6C>T Single submitter Bardet-Biedl syndrome
• c.1432+12G>A Single submitter Bardet-Biedl syndrome
• c.1433-12C>A Single submitter Bardet-Biedl syndrome
• c.1433-19A>T Single submitter Bardet-Biedl syndrome
• c.1433-9T>C Single submitter Bardet-Biedl syndrome
• c.1537+12G>C Single submitter Bardet-Biedl syndrome
• c.1537+13dup Single submitter Bardet-Biedl syndrome
• c.1537+20C>A Single submitter Bardet-Biedl syndrome
• c.1537+20C>T Single submitter Bardet-Biedl syndrome
• c.1537+9A>G Single submitter Bardet-Biedl syndrome
• c.1538-13C>A Single submitter Bardet-Biedl syndrome
• c.1538-13C>T Single submitter Bardet-Biedl syndrome
• c.1538-17T>C Single submitter Bardet-Biedl syndrome
• c.1538-4A>G Single submitter Bardet-Biedl syndrome
• c.1538-8A>T Single submitter Bardet-Biedl syndrome
• c.1552+17T>C Single submitter Bardet-Biedl syndrome
• c.1552+9A>G Single submitter Bardet-Biedl syndrome
• c.1553-12C>A Single submitter Bardet-Biedl syndrome
• c.1553-12C>G Single submitter Bardet-Biedl syndrome
• c.1553-14C>T Single submitter Bardet-Biedl syndrome
• c.1553-17T>A Single submitter Bardet-Biedl syndrome
• c.1553-17T>C Single submitter Bardet-Biedl syndrome
• c.1553-20A>C Single submitter Bardet-Biedl syndrome
• c.1553-20A>G Single submitter Bardet-Biedl syndrome
• c.1553-8T>C Single submitter Bardet-Biedl syndrome
• c.1694-10T>C Single submitter Bardet-Biedl syndrome
• c.1694-19T>A Single submitter Bardet-Biedl syndrome
• c.1694-4G>A Single submitter Bardet-Biedl syndrome
• c.1694-4G>C Single submitter Bardet-Biedl syndrome
• c.1694-6T>G Single submitter Bardet-Biedl syndrome
• c.1694-8C>T Single submitter Bardet-Biedl syndrome
• c.1789+11C>A Single submitter Bardet-Biedl syndrome
• c.1789+12C>A Single submitter Bardet-Biedl syndrome
• c.1789+15G>C Single submitter Bardet-Biedl syndrome
• c.1790-13T>A Single submitter Bardet-Biedl syndrome
• c.1790-15A>T Single submitter Bardet-Biedl syndrome
• c.1790-16A>C Single submitter Bardet-Biedl syndrome
• c.1790-18T>A Single submitter Bardet-Biedl syndrome
• c.1790-19C>T Single submitter Bardet-Biedl syndrome
• c.1790-20C>G Single submitter Bardet-Biedl syndrome
• c.1790-7C>A Single submitter Bardet-Biedl syndrome
• c.1962+11T>C Single submitter Bardet-Biedl syndrome
• c.1962+17C>T Single submitter Bardet-Biedl syndrome
• c.1962+18C>A Single submitter Bardet-Biedl syndrome
• c.1962+18C>G Single submitter Bardet-Biedl syndrome
• c.1962+9G>A Single submitter Bardet-Biedl syndrome
• c.1963-10T>C Single submitter Bardet-Biedl syndrome
• c.1963-13T>C Single submitter Bardet-Biedl syndrome
• c.1963-15A>G Single submitter Bardet-Biedl syndrome
• c.1963-18A>C Single submitter Bardet-Biedl syndrome
• c.1963-4G>A Single submitter Bardet-Biedl syndrome
• c.1963-8C>A Single submitter Bardet-Biedl syndrome
• c.1963-9T>A Single submitter Bardet-Biedl syndrome
• c.2115+12A>G Single submitter Bardet-Biedl syndrome
• c.2115+15A>C Single submitter Bardet-Biedl syndrome
• c.2115+17T>C Single submitter Bardet-Biedl syndrome
• c.2115+9A>G Single submitter Bardet-Biedl syndrome
• c.2116-11A>G Single submitter Bardet-Biedl syndrome
• c.2116-12dup Single submitter Bardet-Biedl syndrome
• c.2116-13G>C Single submitter Bardet-Biedl syndrome
• c.2116-15T>C Single submitter Bardet-Biedl syndrome
• c.2116-17G>A Single submitter Bardet-Biedl syndrome
• c.2116-20G>T Single submitter Bardet-Biedl syndrome
• c.2116-5T>C Single submitter Bardet-Biedl syndrome
• c.2298+16C>T Single submitter Bardet-Biedl syndrome
• c.2298+19G>A Single submitter Bardet-Biedl syndrome
• c.2298+20T>C Single submitter Bardet-Biedl syndrome
• c.2298+8C>A Single submitter Bardet-Biedl syndrome
• c.2299-14G>C Single submitter Bardet-Biedl syndrome
• c.2299-19A>G Single submitter Bardet-Biedl syndrome
• c.2299-4C>G Single submitter Bardet-Biedl syndrome
• c.2521+11dup Single submitter Bardet-Biedl syndrome
• c.2521+16A>C Single submitter Bardet-Biedl syndrome
• c.2521+19C>G Single submitter Bardet-Biedl syndrome
• c.2521+19C>T Single submitter Bardet-Biedl syndrome
• c.2521+20T>C Single submitter Bardet-Biedl syndrome
• c.2521+7G>A Single submitter Bardet-Biedl syndrome
• c.2522-13A>C Single submitter Bardet-Biedl syndrome
• c.2522-15G>A Single submitter Bardet-Biedl syndrome
• c.2522-15G>C Single submitter Bardet-Biedl syndrome
• c.2522-7C>A Single submitter Bardet-Biedl syndrome
• c.2522-7del Single submitter Bardet-Biedl syndrome
• c.263+11_263+12dup Single submitter Bardet-Biedl syndrome
• c.263+13A>G Single submitter Bardet-Biedl syndrome
• c.263+14C>T Single submitter Bardet-Biedl syndrome
• c.263+15T>C Single submitter Bardet-Biedl syndrome
• c.263+16A>G Single submitter Bardet-Biedl syndrome
• c.2632+10del Single submitter Bardet-Biedl syndrome
• c.2632+13A>T Single submitter Bardet-Biedl syndrome
• c.2632+8A>C Single submitter Bardet-Biedl syndrome
• c.2633-10T>C Single submitter Bardet-Biedl syndrome
• c.2633-11T>C Single submitter Bardet-Biedl syndrome
• c.2633-16C>T Single submitter Bardet-Biedl syndrome
• c.2633-16CT[2] Single submitter Bardet-Biedl syndrome
• c.2633-5T>C Single submitter Bardet-Biedl syndrome
• c.2633-6T>C Single submitter Bardet-Biedl syndrome
• c.264-10T>C Single submitter Bardet-Biedl syndrome
• c.264-11_264-10del Single submitter Bardet-Biedl syndrome
• c.264-11C>G Single submitter Bardet-Biedl syndrome
• c.264-12T>G Single submitter Bardet-Biedl syndrome
• c.264-13C>A Single submitter Bardet-Biedl syndrome
• c.264-14T>G Single submitter Bardet-Biedl syndrome
• c.264-16T>G Single submitter Bardet-Biedl syndrome
• c.264-19A>C Single submitter Bardet-Biedl syndrome
• c.264-4T>C Single submitter Bardet-Biedl syndrome
• c.328+10A>T Single submitter Bardet-Biedl syndrome
• c.328+11T>C Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTT Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTGAG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG Single submitter Bardet-Biedl syndrome
• c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG Single submitter Bardet-Biedl syndrome
• c.328+16A>C Single submitter Bardet-Biedl syndrome
• c.328+16A>G Single submitter Bardet-Biedl syndrome
• c.328+7A>T Single submitter Bardet-Biedl syndrome
• c.329-13T>C Single submitter Bardet-Biedl syndrome
• c.329-19_329-17del Single submitter Bardet-Biedl syndrome
• c.329-19C>T Single submitter Bardet-Biedl syndrome
• c.329-5del Single submitter Bardet-Biedl syndrome
• c.329-6C>T Single submitter Bardet-Biedl syndrome
• c.329-7T>C Single submitter Bardet-Biedl syndrome
• c.329-8T>C Single submitter Bardet-Biedl syndrome
• c.442+12T>C Single submitter Bardet-Biedl syndrome
• c.442+16T>A Single submitter Bardet-Biedl syndrome
• c.442+19T>C Single submitter Bardet-Biedl syndrome
• c.443-15C>T Single submitter Bardet-Biedl syndrome
• c.443-17C>A Single submitter Bardet-Biedl syndrome
• c.443-20T>C Single submitter Bardet-Biedl syndrome
• c.443-6_443-4del Single submitter Bardet-Biedl syndrome
• c.617+13G>A Single submitter Bardet-Biedl syndrome
• c.617+17A>C Single submitter Bardet-Biedl syndrome
• c.617+7_617+8del Single submitter Bardet-Biedl syndrome
• c.617+7T>C Single submitter Bardet-Biedl syndrome
• c.618-14T>C Single submitter Bardet-Biedl syndrome
• c.618-17A>T Single submitter Bardet-Biedl syndrome
• c.618-18T>A Single submitter Bardet-Biedl syndrome
• c.618-4A>G Single submitter Bardet-Biedl syndrome
• c.702+10T>C Single submitter Bardet-Biedl syndrome
• c.702+13T>C Single submitter Bardet-Biedl syndrome
• c.702+16A>G Single submitter Bardet-Biedl syndrome
• c.702+18T>C Single submitter Bardet-Biedl syndrome
• c.702+20T>C Single submitter Bardet-Biedl syndrome
• c.703-14G>A Single submitter Bardet-Biedl syndrome
• c.703-17T>C Single submitter Bardet-Biedl syndrome
• c.703-18T>C Single submitter Bardet-Biedl syndrome
• c.703-19A>G Single submitter Bardet-Biedl syndrome
• c.703-8C>T Single submitter
• c.886+11A>G Single submitter Bardet-Biedl syndrome
• c.886+11dup Single submitter Bardet-Biedl syndrome
• c.886+12G>A Single submitter Bardet-Biedl syndrome
• c.886+12G>T Single submitter Bardet-Biedl syndrome
• c.886+17del Single submitter Bardet-Biedl syndrome
• c.886+19T>C Single submitter Bardet-Biedl syndrome
• c.886+7_886+8insAAA Single submitter Bardet-Biedl syndrome
• c.886+8G>A Single submitter Bardet-Biedl syndrome
• c.886+9A>G Single submitter Bardet-Biedl syndrome
• c.887-15A>C Single submitter Bardet-Biedl syndrome
• c.887-16T>C Single submitter Bardet-Biedl syndrome
• c.887-17G>A Single submitter Bardet-Biedl syndrome
• c.-305T>G Single submitter Bardet-Biedl syndrome 9
• c.*444G>A Single submitter Bardet-Biedl syndrome 9
• p.Ala185= Single submitter Bardet-Biedl syndrome
• p.Ala323= Single submitter Bardet-Biedl syndrome
• p.Ala368= Single submitter Bardet-Biedl syndrome
• p.Ala427= Single submitter Bardet-Biedl syndrome
• p.Ala567= Single submitter Bardet-Biedl syndrome
• p.Ala592= Single submitter Bardet-Biedl syndrome
• p.Ala6= Single submitter Bardet-Biedl syndrome
• p.Ala633= Single submitter Bardet-Biedl syndrome
• p.Ala712= Single submitter Bardet-Biedl syndrome
• p.Ala730= Single submitter Bardet-Biedl syndrome
• p.Ala750= Single submitter Bardet-Biedl syndrome
• p.Ala792= Single submitter Bardet-Biedl syndrome
• p.Arg133= Single submitter Bardet-Biedl syndrome
• p.Arg278= Single submitter Bardet-Biedl syndrome
• p.Arg334= Single submitter Bardet-Biedl syndrome
• p.Arg407= Single submitter Bardet-Biedl syndrome
• p.Arg598= Single submitter Bardet-Biedl syndrome
• p.Arg656= Single submitter Bardet-Biedl syndrome
• p.Arg678= Single submitter Bardet-Biedl syndrome
• p.Arg679= Single submitter Bardet-Biedl syndrome
• p.Arg824= Single submitter Bardet-Biedl syndrome
• p.Arg854= Single submitter Bardet-Biedl syndrome
• p.Arg876= Single submitter Bardet-Biedl syndrome
• p.Asn114= Single submitter Bardet-Biedl syndrome
• p.Asn310= Single submitter Bardet-Biedl syndrome
• p.Asn35= Single submitter Bardet-Biedl syndrome
• p.Asn448= Single submitter Bardet-Biedl syndrome
• p.Asn796= Single submitter Bardet-Biedl syndrome
• p.Asp284= Single submitter Bardet-Biedl syndrome
• p.Asp340= Single submitter Bardet-Biedl syndrome
• p.Asp351= Single submitter Bardet-Biedl syndrome
• p.Asp394= Single submitter Bardet-Biedl syndrome
• p.Asp470= Single submitter Bardet-Biedl syndrome
• p.Asp571= Single submitter
• p.Asp572= Single submitter Bardet-Biedl syndrome
• p.Asp608= Single submitter Bardet-Biedl syndrome
• p.Asp631= Single submitter Bardet-Biedl syndrome
• p.Asp67= Single submitter Bardet-Biedl syndrome
• p.Asp700= Single submitter Bardet-Biedl syndrome
• p.Asp76= Single submitter Bardet-Biedl syndrome
• p.Asp804= Single submitter Bardet-Biedl syndrome
• p.Asp850= Single submitter Bardet-Biedl syndrome

Uncertain significance 478

Showing the top 300 by review status; the full set is in the sitemap.

• c.1329+5T>C Multiple submitters Bardet-Biedl syndrome
• c.1538-7T>G Multiple submitters Bardet-Biedl syndrome
• c.1552+5G>T Multiple submitters Bardet-Biedl syndrome
• c.2522-3T>C Multiple submitters Bardet-Biedl syndrome
• c.2633-2A>G Multiple submitters Bardet-Biedl syndrome 9
• c.702+6G>A Multiple submitters Bardet-Biedl syndrome 9
• c.-397G>A Multiple submitters Bardet-Biedl syndrome 9
• p.Ala170Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala368Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala427Ser Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Ala633Thr Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Ala682Thr Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Ala712Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala754Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg133Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg189His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg219Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg278Gln Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Arg528Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg587Gly Multiple submitters Early onset severe obesity ⚠
• p.Arg598Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg600Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg600His Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Arg619Cys Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Arg619His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg656Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg656Trp Multiple submitters Bardet-Biedl syndrome
• p.Arg674Gln Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Arg674Trp Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Arg678Cys Multiple submitters Bardet-Biedl syndrome
• p.Arg678His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg679Gln Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Arg679Trp Multiple submitters Bardet-Biedl syndrome
• p.Arg7Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg7His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg7Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg7Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg876fs Multiple submitters Bardet-Biedl syndrome
• p.Asn307Lys Multiple submitters Inborn genetic diseases ⚠
• p.Asn310Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn310Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn377Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn420Asp Multiple submitters Inborn genetic diseases ⚠
• p.Asn515Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn794Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asp273Gly Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Asp284Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Asp350His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp38Glu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp422Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp429Asn Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Asp650Gly Multiple submitters Inborn genetic diseases
• p.Asp686Val Multiple submitters BBS9-related disorder ⚠
• p.Asp696Glu Multiple submitters BBS9-related disorder ⚠
• p.Asp700Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp817Asn Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Asp830Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp850Glu Multiple submitters Inborn genetic diseases ⚠
• p.Cys270Phe Multiple submitters BBS9-related disorder ⚠
• p.Cys270Ser Multiple submitters BBS9-related disorder ⚠
• p.Gln132Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gln132His Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Gln325Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gln643Arg Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Gln791His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu221Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu298Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu431Asp Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Glu615Gly Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Glu615Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu765_Leu766delinsVal Multiple submitters Bardet-Biedl syndrome
• p.Glu770Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu878Ter Multiple submitters Bardet-Biedl syndrome
• p.Gly145Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly177Cys Multiple submitters Inborn genetic diseases ⚠
• p.Gly230Arg Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Gly400Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly701Arg Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Gly823Asp Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.His117Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.His129Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.His339Tyr Multiple submitters Inborn genetic diseases ⚠
• p.His581Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.His694Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.His869Tyr Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Ile250Val Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Ile314Val Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Ile345Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile41Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile451Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile601Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile612Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile676Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile707Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile801Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile812Phe Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Leu112Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu194Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu210Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu246Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu338_His339delinsPheTyr Multiple submitters Bardet-Biedl syndrome
• p.Leu338Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu457Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu529His Multiple submitters Inborn genetic diseases ⚠
• p.Leu69Ile Multiple submitters Inborn genetic diseases ⚠
• p.Leu69Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu780Phe Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Lys17Glu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys630Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys687Glu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys786Asn Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Lys789Glu Multiple submitters Inborn genetic diseases ⚠
• p.Met138Ile Multiple submitters Inborn genetic diseases ⚠
• p.Met157Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met280Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met404Val Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Met46Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met477Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met837Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Phe20Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Phe268Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Phe4Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro176Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro327Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro419Ala Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Pro511Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro516Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro520Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro520Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro537Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro691Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro758Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ser187Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ser188Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser256Trp Multiple submitters Inborn genetic diseases ⚠
• p.Ser288Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ser494Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser494Cys Multiple submitters Inborn genetic diseases ⚠
• p.Ser637= Multiple submitters Bardet-Biedl syndrome
• p.Ser637Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser729Asn Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Ser886Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ser88Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr441Met Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Thr496Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr496Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr549Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr549Ser Multiple submitters Bardet-Biedl syndrome 9
• p.Thr59Lys Multiple submitters BBS9-related disorder ⚠
• p.Thr725Ile Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Thr771Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr844Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr845Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr460Cys Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Tyr490His Multiple submitters Inborn genetic diseases ⚠
• p.Val371Ala Multiple submitters BBS9-related ciliopathy ⚠
• p.Val371Ile Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Val383Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val395Ile Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Val415= Multiple submitters Bardet-Biedl syndrome
• p.Val417Phe Multiple submitters Bardet-Biedl syndrome 9
• p.Val430Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val444Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val485Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val489Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val590Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val72Met Multiple submitters Bardet-Biedl syndrome 9 ⚠
• p.Val749Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val856Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val885Ala Multiple submitters Inborn genetic diseases ⚠
• p.Val885Phe Multiple submitters Bardet-Biedl syndrome 9 ⚠
• c.1016+2dup Single submitter Bardet-Biedl syndrome
• c.1016+5G>T Single submitter Bardet-Biedl syndrome 9
• c.112+2T>C Single submitter Inborn genetic diseases
• c.1198+3A>G Single submitter Inborn genetic diseases
• c.1275+6T>G Single submitter Bardet-Biedl syndrome
• c.1537+3A>G Single submitter Bardet-Biedl syndrome 9
• c.1553-5T>G Single submitter
• c.1693+4del Single submitter Bardet-Biedl syndrome
• c.1789+5G>T Single submitter Bardet-Biedl syndrome
• c.1790-1091A>G Single submitter Bardet-Biedl syndrome 9
• c.1790-3C>T Single submitter Bardet-Biedl syndrome
• c.1962+3A>T Single submitter Bardet-Biedl syndrome
• c.1962+4T>G Single submitter BBS9-related disorder
• c.1963-6T>C Single submitter Bardet-Biedl syndrome
• c.2116-10A>G Single submitter Bardet-Biedl syndrome 9
• c.2298+5G>A Single submitter Bardet-Biedl syndrome
• c.2521+951G>T Single submitter Bardet-Biedl syndrome 9
• c.2522-5A>G Single submitter Bardet-Biedl syndrome
• c.263+4A>C Single submitter
• c.2632+1G>A Single submitter Bardet-Biedl syndrome 4
• c.2633-3C>G Single submitter Bardet-Biedl syndrome
• c.328+4A>G Single submitter
• c.443-37371A>G Single submitter Bardet-Biedl syndrome 9
• c.618-3C>G Single submitter Bardet-Biedl syndrome
• c.886+4T>A Single submitter Bardet-Biedl syndrome
• c.-163G>C Single submitter Bardet-Biedl syndrome 9
• c.-206T>G Single submitter Bardet-Biedl syndrome 9
• c.-228T>G Single submitter Bardet-Biedl syndrome 9
• c.-271G>A Single submitter Bardet-Biedl syndrome 9
• c.-408T>G Single submitter Bardet-Biedl syndrome 9
• c.-447A>C Single submitter Bardet-Biedl syndrome 9
• c.-456G>A Single submitter Bardet-Biedl syndrome 9
• c.*12T>C Single submitter Bardet-Biedl syndrome 9
• c.*29A>G Single submitter Bardet-Biedl syndrome 9
• c.*323A>G Single submitter Bardet-Biedl syndrome 9
• c.*336A>G Single submitter Bardet-Biedl syndrome 9
• c.*337C>T Single submitter Bardet-Biedl syndrome 9
• c.*406A>G Single submitter Bardet-Biedl syndrome 9
• c.*585C>T Single submitter Bardet-Biedl syndrome 9
• c.*589G>A Single submitter Bardet-Biedl syndrome 9
• c.*729C>T Single submitter Bardet-Biedl syndrome 9
• c.*801G>A Single submitter Bardet-Biedl syndrome 9
• p.Ala211Val Single submitter Bardet-Biedl syndrome
• p.Ala216Thr Single submitter Inborn genetic diseases ⚠
• p.Ala28Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala427Gly Single submitter ⚠
• p.Ala504Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala567Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala592Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala63Thr Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Ala65Val Single submitter Inborn genetic diseases ⚠
• p.Ala670Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala710Thr Single submitter Bardet-Biedl syndrome 9
• p.Ala739Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala755Thr Single submitter BBS9-related ciliopathy ⚠
• p.Ala792Ser Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Ala831Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala832Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Ala832Val Single submitter Inborn genetic diseases ⚠
• p.Arg149Gln Single submitter Inborn genetic diseases ⚠
• p.Arg189Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg232Gly Single submitter Bardet-Biedl syndrome 9
• p.Arg334Thr Single submitter Inborn genetic diseases ⚠
• p.Arg521Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Arg600Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Arg669Lys Single submitter Inborn genetic diseases ⚠
• p.Arg678Leu Single submitter ⚠
• p.Arg7Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Arg818Thr Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Arg824His Single submitter Inborn genetic diseases ⚠
• p.Arg868Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn114Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn130Ser Single submitter Inborn genetic diseases ⚠
• p.Asn137Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn240_Ile241insProAsn Single submitter Bardet-Biedl syndrome 9
• p.Asn35Lys Single submitter BBS9-related ciliopathy ⚠
• p.Asn377Asp Single submitter ⚠
• p.Asn448Lys Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Asn553Thr Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Asn614Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn866fs Single submitter Bardet-Biedl syndrome 9
• p.Asp150Glu Single submitter Bardet-Biedl syndrome
• p.Asp215Val Single submitter Bardet-Biedl syndrome ⚠
• p.Asp21His Single submitter Bardet-Biedl syndrome ⚠
• p.Asp317Ala Single submitter Inborn genetic diseases ⚠
• p.Asp351Val Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Asp410Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Asp517Asn Single submitter Inborn genetic diseases ⚠
• p.Asp700Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp747Val Single submitter Inborn genetic diseases ⚠
• p.Asp773Ala Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Asp830Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Cys249Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Cys249Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys24Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys289Tyr Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Cys525Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys634Arg Single submitter ⚠
• p.Cys826Tyr Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Cys843Arg Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gln224His Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gln355His Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gln355Lys Single submitter Inborn genetic diseases ⚠
• p.Gln602Arg Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gln672Arg Single submitter Inborn genetic diseases ⚠
• p.Gln717Arg Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gln760= Single submitter
• p.Gln764Arg Single submitter Inborn genetic diseases ⚠
• p.Gln883Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Glu128Ala Single submitter ⚠
• p.Glu221_Gln225del Single submitter Bardet-Biedl syndrome
• p.Glu221_Lys226delinsThr Single submitter Bardet-Biedl syndrome 9
• p.Glu265Gly Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Glu607Lys Single submitter Bardet-Biedl syndrome
• p.Glu647Gln Single submitter Inborn genetic diseases ⚠
• p.Glu664Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu664del Single submitter Bardet-Biedl syndrome 9
• p.Glu66Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Glu769Lys Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Glu790Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu878fs Single submitter Bardet-Biedl syndrome
• p.Glu887Lys Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Glu91Lys Single submitter ⚠
• p.Glu91Val Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gly110Arg Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gly182Ala Single submitter ⚠
• p.Gly182Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Gly228Arg Single submitter Bardet-Biedl syndrome 9 ⚠
• p.Gly34Arg Single submitter ⚠