TTC8 — 627 ClinVar variants

All ClinVar germline TTC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

26 Pathogenic · 12 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 29 Conflicting · 7 Benign · 3 Benign/Likely benign · 176 Likely benign · 332 Uncertain significance

Full TTC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All TTC8 variants

Pathogenic 26

c.1049+2_1049+4del Multiple submitters Bardet-Biedl syndrome
p.Gln86Ter Multiple submitters TTC8-related disorder
c.1343_1347+17del Single submitter retinitis pigmentosa 51
c.266-2A>G Single submitter Bardet-Biedl syndrome
c.(768+1_769-1 Single submitter Bardet-Biedl syndrome 8
c.798+2T>C Single submitter retinitis pigmentosa
p.Ala277fs Single submitter Bardet-Biedl syndrome
p.Ala345fs Single submitter Bardet-Biedl syndrome
p.Arg110Ter Single submitter Bardet-Biedl syndrome
p.Gln341Ter Single submitter Bardet-Biedl syndrome
p.Gln38Ter Single submitter Bardet-Biedl syndrome
p.Gln418Ter Single submitter Bardet-Biedl syndrome 8
p.Gln71Ter Single submitter Bardet-Biedl syndrome
p.Glu197Ter Single submitter Bardet-Biedl syndrome
p.Gly409_Ile410insTer Single submitter Inborn genetic diseases
p.Leu191fs Single submitter Bardet-Biedl syndrome
p.Lys233fs Single submitter Bardet-Biedl syndrome
p.Ser155fs Single submitter Bardet-Biedl syndrome 8
p.Thr134fs Single submitter TTC8-related disorder
p.Trp225Ter Single submitter Bardet-Biedl syndrome
p.Trp51Ter Single submitter Bardet-Biedl syndrome
p.Tyr36fs Single submitter Bardet-Biedl syndrome
c.114+1G>T No assertion criteria Bardet-Biedl syndrome 8
c.624+1G>A No assertion criteria Bardet-Biedl syndrome 8
p.Gln449His No assertion criteria retinitis pigmentosa 51
p.Glu197_Tyr198del No assertion criteria Bardet-Biedl syndrome 8

Pathogenic/Likely pathogenic 12

c.114+2T>C Multiple submitters Bardet-Biedl syndrome 8
c.265+1G>A Multiple submitters TTC8-related disorder
p.Arg300_Ile301insTer Multiple submitters Bardet-Biedl syndrome 8
p.Cys23fs Multiple submitters Bardet-Biedl syndrome 8
p.Gln187Ter Multiple submitters Bardet-Biedl syndrome 8
p.Gln247Ter Multiple submitters retinitis pigmentosa 51
p.Glu313fs Multiple submitters Bardet-Biedl syndrome
p.Gly98fs Multiple submitters retinitis pigmentosa 51
p.His201fs Multiple submitters Bardet-Biedl syndrome
p.Met305fs Multiple submitters retinitis pigmentosa 51
p.Thr163= Multiple submitters TTC8-related disorder
p.Trp226Ter Multiple submitters TTC8-related disorder

Likely pathogenic 42

c.624+1_624+2del Multiple submitters retinitis pigmentosa 51
c.799-2A>G Multiple submitters Bardet-Biedl syndrome
c.115-2A>G Single submitter inherited retinal dystrophy
c.1224+1G>C Single submitter retinitis pigmentosa 51
c.1348-1G>A Single submitter retinitis pigmentosa 51
c.144+1G>T Single submitter TTC8-related disorder
c.265+1_265+2del Single submitter Bardet-Biedl syndrome 8
c.265+1del Single submitter retinitis pigmentosa 51
c.489+1G>A Single submitter Bardet-Biedl syndrome 8
c.579+1G>A Single submitter Bardet-Biedl syndrome
c.579+5G>A Single submitter Bardet-Biedl syndrome
c.580-2A>G Single submitter Bardet-Biedl syndrome 8
c.625-1G>T Single submitter retinitis pigmentosa 51
c.710+1G>A Single submitter Bardet-Biedl syndrome
c.711-2A>G Single submitter retinitis pigmentosa 51
c.798+1G>A Single submitter Bardet-Biedl syndrome 8
c.799-1G>T Single submitter Bardet-Biedl syndrome
c.799-2A>C Single submitter retinitis pigmentosa 51
c.910-1G>A Single submitter Bardet-Biedl syndrome
p.Ala214fs Single submitter retinitis pigmentosa 51
p.Cys27fs Single submitter Bardet-Biedl syndrome 8
p.Gln114Ter Single submitter Bardet-Biedl syndrome 8
p.Glu317Ter Single submitter retinitis pigmentosa 51
p.Glu32Ter Single submitter retinitis pigmentosa 51
p.Glu72Ter Single submitter retinitis pigmentosa 51
p.Gly156Ter Single submitter
p.Gly284fs Single submitter retinitis pigmentosa 51
p.His463fs Single submitter Bardet-Biedl syndrome
p.Ile67fs Single submitter retinitis pigmentosa 51
p.Leu280_Phe281insTer Single submitter retinitis pigmentosa 51
p.Leu437fs Single submitter retinitis pigmentosa 51
p.Met1Lys Single submitter TTC8-related disorder
p.Met378fs Single submitter retinitis pigmentosa 51
p.Pro90fs Single submitter TTC8-related disorder
p.Ser153fs Single submitter Bardet-Biedl syndrome 8
p.Ser178fs Single submitter retinitis pigmentosa 51
p.Thr168fs Single submitter Bardet-Biedl syndrome 8
p.Trp227Ter Single submitter retinitis pigmentosa 51
p.Tyr185Ter Single submitter retinitis pigmentosa 51
p.Tyr63Ter Single submitter
p.Cys234Tyr No assertion criteria Bardet-Biedl syndrome 8
p.Lys19fs No assertion criteria TTC8-related disorder

Conflicting classifications of pathogenicity 29

c.114+6G>C Single submitter Bardet-Biedl syndrome
c.145-10T>C Single submitter retinitis pigmentosa 51
c.330-15T>A Single submitter Bardet-Biedl syndrome 8
c.490-9C>A Single submitter Bardet-Biedl syndrome
c.625-12T>C Single submitter retinitis pigmentosa 51
c.625-5C>T Single submitter retinitis pigmentosa
c.799-11C>T Single submitter Bardet-Biedl syndrome 8
c.-25G>A Single submitter Bardet-Biedl syndrome 8
c.*83A>G Single submitter retinitis pigmentosa
c.*93G>A Single submitter retinitis pigmentosa
p.Ala488Val Single submitter retinitis pigmentosa 51
p.Arg443Gln Single submitter Inborn genetic diseases
p.Arg443Trp Single submitter retinitis pigmentosa 51
p.Arg89= Single submitter retinitis pigmentosa
p.Asn359= Single submitter Bardet-Biedl syndrome
p.Asp497= Single submitter Bardet-Biedl syndrome
p.Asp65Gly Single submitter Bardet-Biedl syndrome
p.Gln418Arg Single submitter Bardet-Biedl syndrome
p.Gly411Arg Single submitter Bardet-Biedl syndrome
p.Ile474Val Single submitter Inborn genetic diseases
p.Lys223= Single submitter retinitis pigmentosa
p.Lys249fs Single submitter retinitis pigmentosa 51
p.Lys95Arg Single submitter retinitis pigmentosa
p.Phe196fs Single submitter Bardet-Biedl syndrome 8
p.Pro467= Single submitter Bardet-Biedl syndrome
p.Pro88= Single submitter Bardet-Biedl syndrome
p.Ser2Asn Single submitter Bardet-Biedl syndrome 8
p.Ser2Gly Single submitter Inborn genetic diseases
p.Thr473Ala Single submitter Inborn genetic diseases

Benign 7

c.1432-12T>C Multiple submitters Bardet-Biedl syndrome 8
c.329+48T>C Multiple submitters
c.*238G>A Multiple submitters Bardet-Biedl syndrome 8
c.114+233T>C Single submitter
c.1432-317G>A Single submitter
c.624+152T>C Single submitter
c.*472A>C Single submitter Bardet-Biedl syndrome 8

Benign/Likely benign 3

c.145-7G>A Multiple submitters Bardet-Biedl syndrome
c.909+18T>C Multiple submitters Bardet-Biedl syndrome
c.*493T>C Single submitter retinitis pigmentosa

Likely benign 176

c.1049+11C>T Multiple submitters Bardet-Biedl syndrome
c.1050-5A>T Multiple submitters Bardet-Biedl syndrome
c.114+12C>A Multiple submitters Bardet-Biedl syndrome
c.114+15C>G Multiple submitters Bardet-Biedl syndrome
c.1224+15T>C Multiple submitters Bardet-Biedl syndrome
c.1224+15T>G Multiple submitters Bardet-Biedl syndrome
c.1224+20T>C Multiple submitters Bardet-Biedl syndrome
c.1347+17C>T Multiple submitters Bardet-Biedl syndrome
c.1347+18G>A Multiple submitters Bardet-Biedl syndrome
c.1431+12C>T Multiple submitters Bardet-Biedl syndrome
c.266-10del Multiple submitters Bardet-Biedl syndrome
c.711-16A>C Multiple submitters Bardet-Biedl syndrome 8
c.909+10G>A Multiple submitters Bardet-Biedl syndrome
c.910-16T>G Multiple submitters retinitis pigmentosa 51
c.*16C>T Multiple submitters
p.Ala108= Multiple submitters Bardet-Biedl syndrome
p.Ala251= Multiple submitters Bardet-Biedl syndrome
p.Ala386= Multiple submitters Bardet-Biedl syndrome
p.Ala488= Multiple submitters Bardet-Biedl syndrome
p.Ala57= Multiple submitters Bardet-Biedl syndrome
p.Arg124= Multiple submitters Bardet-Biedl syndrome
p.Arg18= Multiple submitters Bardet-Biedl syndrome
p.Asn100Ser Multiple submitters Bardet-Biedl syndrome
p.Gly133= Multiple submitters Bardet-Biedl syndrome
p.Gly445= Multiple submitters Bardet-Biedl syndrome
p.His430= Multiple submitters Bardet-Biedl syndrome
p.Ile119= Multiple submitters Bardet-Biedl syndrome
p.Ile329= Multiple submitters Bardet-Biedl syndrome
p.Leu191= Multiple submitters Bardet-Biedl syndrome
p.Phe122= Multiple submitters Bardet-Biedl syndrome
p.Ser155= Multiple submitters Bardet-Biedl syndrome
p.Ser178= Multiple submitters Bardet-Biedl syndrome
p.Thr127= Multiple submitters Bardet-Biedl syndrome
p.Thr144= Multiple submitters Bardet-Biedl syndrome
p.Thr501= Multiple submitters Bardet-Biedl syndrome
p.Thr92= Multiple submitters Bardet-Biedl syndrome
c.1049+7T>G Single submitter Bardet-Biedl syndrome
c.1050-13C>G Single submitter Bardet-Biedl syndrome
c.1050-17T>C Single submitter Bardet-Biedl syndrome
c.1050-20G>A Single submitter Bardet-Biedl syndrome
c.1050-5A>C Single submitter Bardet-Biedl syndrome
c.114+18T>G Single submitter Bardet-Biedl syndrome
c.114+19C>T Single submitter Bardet-Biedl syndrome
c.114+7G>C Single submitter Bardet-Biedl syndrome
c.114+8C>T Single submitter
c.115-4C>G Single submitter
c.1224+12T>A Single submitter Bardet-Biedl syndrome
c.1224+19A>G Single submitter Bardet-Biedl syndrome
c.1224+8G>T Single submitter Bardet-Biedl syndrome
c.1225-12T>C Single submitter Bardet-Biedl syndrome
c.1225-18A>G Single submitter Bardet-Biedl syndrome
c.1225-4G>T Single submitter Bardet-Biedl syndrome
c.1347+20C>A Single submitter Bardet-Biedl syndrome
c.1347+7G>C Single submitter Bardet-Biedl syndrome
c.1348-18C>A Single submitter Bardet-Biedl syndrome
c.1348-8A>G Single submitter Bardet-Biedl syndrome
c.1431+10T>G Single submitter Bardet-Biedl syndrome
c.1431+20_1431+24del Single submitter Bardet-Biedl syndrome
c.1431+8C>G Single submitter Bardet-Biedl syndrome
c.1432-16C>T Single submitter Bardet-Biedl syndrome
c.1432-20T>C Single submitter Bardet-Biedl syndrome
c.265+11G>A Single submitter Bardet-Biedl syndrome
c.265+19G>C Single submitter Bardet-Biedl syndrome
c.265+8T>C Single submitter Bardet-Biedl syndrome
c.265+8T>G Single submitter Bardet-Biedl syndrome
c.266-14A>G Single submitter
c.266-4C>A Single submitter Bardet-Biedl syndrome
c.266-5C>G Single submitter Bardet-Biedl syndrome
c.266-5C>T Single submitter Bardet-Biedl syndrome
c.329+11C>G Single submitter Bardet-Biedl syndrome
c.329+12T>C Single submitter Bardet-Biedl syndrome
c.329+15T>G Single submitter
c.329+18A>G Single submitter Bardet-Biedl syndrome
c.329+19T>C Single submitter Bardet-Biedl syndrome
c.330-18A>C Single submitter Bardet-Biedl syndrome
c.490-9C>T Single submitter Bardet-Biedl syndrome
c.579+19T>G Single submitter Bardet-Biedl syndrome
c.579+43C>T Single submitter
c.579+7A>G Single submitter Bardet-Biedl syndrome
c.580-13T>G Single submitter Bardet-Biedl syndrome
c.580-18A>G Single submitter
c.624+19C>G Single submitter Bardet-Biedl syndrome
c.624+2735T>C Single submitter
c.624+2771A>G Single submitter
c.624+2785A>G Single submitter
c.624+2797T>C Single submitter
c.624+8T>C Single submitter Bardet-Biedl syndrome
c.625-20A>G Single submitter Bardet-Biedl syndrome
c.711-13T>C Single submitter Bardet-Biedl syndrome
c.711-18T>G Single submitter Bardet-Biedl syndrome
c.798+15A>G Single submitter Bardet-Biedl syndrome
c.798+8A>C Single submitter Bardet-Biedl syndrome
c.799-10T>C Single submitter Bardet-Biedl syndrome
c.799-17_799-16del Single submitter Bardet-Biedl syndrome
c.799-20G>T Single submitter Bardet-Biedl syndrome
c.799-9del Single submitter Bardet-Biedl syndrome
c.909+11TTA[4] Single submitter
c.910-16T>C Single submitter Bardet-Biedl syndrome
c.910-6G>A Single submitter Bardet-Biedl syndrome
p.Ala214= Single submitter Bardet-Biedl syndrome
p.Ala431= Single submitter Bardet-Biedl syndrome
p.Ala452= Single submitter Bardet-Biedl syndrome
p.Arg443= Single submitter Bardet-Biedl syndrome
p.Arg451= Single submitter Bardet-Biedl syndrome
p.Arg483= Single submitter Bardet-Biedl syndrome
p.Arg509= Single submitter Bardet-Biedl syndrome
p.Asn176= Single submitter Bardet-Biedl syndrome
p.Asn427= Single submitter Bardet-Biedl syndrome
p.Asn435= Single submitter
p.Asn436= Single submitter Bardet-Biedl syndrome
p.Asp259= Single submitter Bardet-Biedl syndrome
p.Asp41= Single submitter
p.Cys23= Single submitter Bardet-Biedl syndrome
p.Cys419= Single submitter Bardet-Biedl syndrome
p.Gln375= Single submitter Bardet-Biedl syndrome
p.Gln510= Single submitter Bardet-Biedl syndrome
p.Glu243= Single submitter Bardet-Biedl syndrome
p.Glu32= Single submitter Bardet-Biedl syndrome
p.Gly130= Single submitter Bardet-Biedl syndrome
p.Gly172= Single submitter
p.Gly367= Single submitter Bardet-Biedl syndrome
p.Gly411= Single submitter Bardet-Biedl syndrome
p.His202= Single submitter Bardet-Biedl syndrome
p.His219= Single submitter Bardet-Biedl syndrome
p.Ile301= Single submitter Bardet-Biedl syndrome
p.Ile357= Single submitter Bardet-Biedl syndrome
p.Ile474= Single submitter Bardet-Biedl syndrome
p.Ile52= Single submitter Bardet-Biedl syndrome
p.Ile64Val Single submitter Inborn genetic diseases
p.Ile74= Single submitter Bardet-Biedl syndrome
p.Leu123= Single submitter Bardet-Biedl syndrome
p.Leu195= Single submitter Bardet-Biedl syndrome
p.Leu238= Single submitter Bardet-Biedl syndrome
p.Leu262= Single submitter Bardet-Biedl syndrome
p.Leu294= Single submitter Bardet-Biedl syndrome
p.Leu295= Single submitter Bardet-Biedl syndrome
p.Leu454= Single submitter
p.Leu58= Single submitter Bardet-Biedl syndrome
p.Leu8= Single submitter Bardet-Biedl syndrome
p.Lys184= Single submitter Bardet-Biedl syndrome
p.Lys246= Single submitter Bardet-Biedl syndrome
p.Lys316= Single submitter Bardet-Biedl syndrome
p.Phe288= Single submitter Bardet-Biedl syndrome
p.Pro118= Single submitter Bardet-Biedl syndrome
p.Pro125= Single submitter Bardet-Biedl syndrome
p.Ser154= Single submitter Bardet-Biedl syndrome
p.Ser169= Single submitter Bardet-Biedl syndrome
p.Ser270= Single submitter Bardet-Biedl syndrome
p.Ser484= Single submitter Bardet-Biedl syndrome
p.Thr28= Single submitter Bardet-Biedl syndrome
p.Thr381= Single submitter Bardet-Biedl syndrome
p.Thr59= Single submitter Bardet-Biedl syndrome
p.Tyr146= Single submitter Bardet-Biedl syndrome
p.Tyr263= Single submitter Bardet-Biedl syndrome
p.Tyr314= Single submitter Bardet-Biedl syndrome
p.Val159= Single submitter Bardet-Biedl syndrome
p.Val326= Single submitter Bardet-Biedl syndrome
p.Val46= Single submitter
c.115-5T>G No assertion criteria TTC8-related disorder
c.1347+10C>G No assertion criteria TTC8-related disorder
c.266-3dup No assertion criteria TTC8-related disorder
c.266-4C>T No assertion criteria TTC8-related disorder
c.579+47T>A No assertion criteria TTC8-related disorder
c.579+47T>C No assertion criteria TTC8-related disorder
c.624+2831A>G No assertion criteria TTC8-related disorder
c.-20C>A No assertion criteria TTC8-related disorder
c.-23C>T No assertion criteria TTC8-related disorder
c.-40C>A No assertion criteria TTC8-related disorder
p.Ala513= No assertion criteria TTC8-related disorder
p.Asp322= No assertion criteria TTC8-related disorder
p.Gln230= No assertion criteria TTC8-related disorder
p.His405= No assertion criteria TTC8-related disorder
p.Ile231= No assertion criteria TTC8-related disorder
p.Leu346= No assertion criteria TTC8-related disorder
p.Ser382= No assertion criteria TTC8-related disorder
p.Ser475= No assertion criteria TTC8-related disorder

Uncertain significance 332

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

c.114+5C>T Multiple submitters Bardet-Biedl syndrome 8
c.329+4T>C Multiple submitters Bardet-Biedl syndrome
c.579+44G>A Multiple submitters
c.710+4A>C Multiple submitters retinitis pigmentosa 51
c.*92C>T Multiple submitters retinitis pigmentosa
p.Ala108Thr Multiple submitters Inborn genetic diseases
p.Ala145Thr Multiple submitters retinitis pigmentosa 51
p.Ala164Thr Multiple submitters Bardet-Biedl syndrome
p.Ala194Thr Multiple submitters Inborn genetic diseases
p.Ala214Thr Multiple submitters Bardet-Biedl syndrome
p.Ala328Val Multiple submitters retinitis pigmentosa 51
p.Ala330Thr Multiple submitters Bardet-Biedl syndrome
p.Ala461Val Multiple submitters Inborn genetic diseases
p.Ala50Ser Multiple submitters Bardet-Biedl syndrome 8
p.Ala55Thr Multiple submitters Inborn genetic diseases
p.Ala57Val Multiple submitters Inborn genetic diseases
p.Ala75Glu Multiple submitters Bardet-Biedl syndrome
p.Arg140Gly Multiple submitters Bardet-Biedl syndrome
p.Arg149Cys Multiple submitters retinitis pigmentosa 51
p.Arg149His Multiple submitters Bardet-Biedl syndrome
p.Arg242His Multiple submitters Bardet-Biedl syndrome
p.Arg347Trp Multiple submitters TTC8-related disorder
p.Arg351Gln Multiple submitters Bardet-Biedl syndrome
p.Arg351Trp Multiple submitters retinitis pigmentosa 51
p.Arg385His Multiple submitters Inborn genetic diseases
p.Arg421Thr Multiple submitters Inborn genetic diseases
p.Arg451Lys Multiple submitters Bardet-Biedl syndrome
p.Arg89Cys Multiple submitters inherited retinal dystrophy
p.Asn100Asp Multiple submitters retinitis pigmentosa 51
p.Asn426Ile Multiple submitters TTC8-related disorder
p.Asn426Ser Multiple submitters Inborn genetic diseases
p.Asp171Gly Multiple submitters Bardet-Biedl syndrome
p.Asp322Asn Multiple submitters Bardet-Biedl syndrome 8
p.Asp65Asn Multiple submitters retinitis pigmentosa 51
p.Gln114Arg Multiple submitters Inborn genetic diseases
p.Gln21Leu Multiple submitters retinitis pigmentosa 51
p.Gln221Arg Multiple submitters Inborn genetic diseases
p.Gln375Pro Multiple submitters Inborn genetic diseases
p.Gln38Arg Multiple submitters Bardet-Biedl syndrome 8
p.Gln38His Multiple submitters Bardet-Biedl syndrome
p.Gln455Glu Multiple submitters Bardet-Biedl syndrome
p.Gln455Lys Multiple submitters retinitis pigmentosa 51
p.Gln489Ter Multiple submitters Inborn genetic diseases
p.Glu203Lys Multiple submitters retinitis pigmentosa 51
p.Glu317Ala Multiple submitters retinitis pigmentosa
p.Glu317Lys Multiple submitters Bardet-Biedl syndrome
p.Glu327Gly Multiple submitters retinitis pigmentosa 51
p.Glu391Gln Multiple submitters Inborn genetic diseases
p.Glu395Asp Multiple submitters Bardet-Biedl syndrome
p.Glu432Lys Multiple submitters Bardet-Biedl syndrome 8
p.Glu72Lys Multiple submitters Bardet-Biedl syndrome 8
p.Gly103Val Multiple submitters Inborn genetic diseases
p.Gly156Arg Multiple submitters Bardet-Biedl syndrome
p.Gly162Arg Multiple submitters Inborn genetic diseases
p.Gly239Arg Multiple submitters Bardet-Biedl syndrome
p.Gly360Ser Multiple submitters retinitis pigmentosa 51
p.Gly98Glu Multiple submitters Inborn genetic diseases
p.His201Arg Multiple submitters Bardet-Biedl syndrome
p.His405Gln Multiple submitters Bardet-Biedl syndrome
p.His468Tyr Multiple submitters retinitis pigmentosa 51
p.Ile112Met Multiple submitters retinitis pigmentosa 51
p.Ile119Val Multiple submitters Bardet-Biedl syndrome
p.Ile139Val Multiple submitters Inborn genetic diseases
p.Ile151Asn Multiple submitters retinitis pigmentosa 51
p.Ile199Asn Multiple submitters Bardet-Biedl syndrome
p.Ile410Thr Multiple submitters
p.Ile64Met Multiple submitters Bardet-Biedl syndrome
p.Ile84Val Multiple submitters Inborn genetic diseases
p.Leu262Pro Multiple submitters retinitis pigmentosa 51
p.Leu285Phe Multiple submitters retinitis pigmentosa 51
p.Leu346Pro Multiple submitters retinitis pigmentosa 51
p.Leu437Val Multiple submitters Bardet-Biedl syndrome 8
p.Leu454Val Multiple submitters Leber congenital amaurosis
p.Leu481Met Multiple submitters Bardet-Biedl syndrome
p.Leu53Ser Multiple submitters Bardet-Biedl syndrome 8
p.Leu58Ile Multiple submitters Bardet-Biedl syndrome 8
p.Leu58Pro Multiple submitters Bardet-Biedl syndrome 8
p.Leu8Gln Multiple submitters Inborn genetic diseases
p.Met1Leu Multiple submitters Bardet-Biedl syndrome 8
p.Met1Thr Multiple submitters retinitis pigmentosa 51
p.Met1Val Multiple submitters Bardet-Biedl syndrome
p.Met305Val Multiple submitters retinitis pigmentosa 51
p.Met308Thr Multiple submitters retinitis pigmentosa 51
p.Met355Leu Multiple submitters Bardet-Biedl syndrome
p.Met378Thr Multiple submitters retinitis pigmentosa 51
p.Met61Ile Multiple submitters Bardet-Biedl syndrome
p.Phe15Leu Multiple submitters Inborn genetic diseases
p.Phe348Leu Multiple submitters Bardet-Biedl syndrome
p.Pro35His Multiple submitters Bardet-Biedl syndrome
p.Pro467Leu Multiple submitters Bardet-Biedl syndrome 8
p.Pro496Leu Multiple submitters Bardet-Biedl syndrome
p.Ser169Asn Multiple submitters Inborn genetic diseases
p.Ser3Leu Multiple submitters retinitis pigmentosa 51
p.Thr127Met Multiple submitters Bardet-Biedl syndrome
p.Thr134Ile Multiple submitters Bardet-Biedl syndrome
p.Thr141Lys Multiple submitters Inborn genetic diseases
p.Thr163Met Multiple submitters inherited retinal dystrophy
p.Thr413Pro Multiple submitters Bardet-Biedl syndrome
p.Thr59Ala Multiple submitters Bardet-Biedl syndrome
p.Thr92Met Multiple submitters Bardet-Biedl syndrome
p.Tyr302Cys Multiple submitters Bardet-Biedl syndrome 8
p.Tyr358Cys Multiple submitters Bardet-Biedl syndrome
p.Val109Ile Multiple submitters Bardet-Biedl syndrome
p.Val206Ile Multiple submitters Bardet-Biedl syndrome
p.Val267Asp Multiple submitters retinitis pigmentosa
p.Val292Ile Multiple submitters Bardet-Biedl syndrome 8
p.Val326Leu Multiple submitters Bardet-Biedl syndrome
p.Val447Ala Multiple submitters Inborn genetic diseases
c.1224+7T>C Single submitter
c.1347+4A>G Single submitter Bardet-Biedl syndrome 8
c.1347+6T>G Single submitter Bardet-Biedl syndrome
c.1431+1G>T Single submitter Bardet-Biedl syndrome
c.1431+3A>G Single submitter Bardet-Biedl syndrome
c.265+5G>A Single submitter Bardet-Biedl syndrome 8
c.624+2767T>C Single submitter
c.624+2779del Single submitter
c.624+2824dup Single submitter TTC8-related disorder
c.624+2825T>G Single submitter
c.798+256T>C Single submitter Bardet-Biedl syndrome 8
c.798+4A>G Single submitter Bardet-Biedl syndrome 8
c.799-6T>A Single submitter
c.910-8G>T Single submitter Bardet-Biedl syndrome 8
c.-12G>T Single submitter
c.-38C>A Single submitter Bardet-Biedl syndrome 8
c.-44C>T Single submitter Bardet-Biedl syndrome 8
c.-8C>T Single submitter
c.*17A>G Single submitter Bardet-Biedl syndrome 8
c.*247T>C Single submitter Bardet-Biedl syndrome 8
c.*377C>T Single submitter Bardet-Biedl syndrome 8
c.*418G>A Single submitter retinitis pigmentosa
c.*45A>C Single submitter Bardet-Biedl syndrome 8
c.*57C>T Single submitter retinitis pigmentosa
p.Ala145Ser Single submitter Inborn genetic diseases
p.Ala24Thr Single submitter Inborn genetic diseases
p.Ala312Glu Single submitter Bardet-Biedl syndrome
p.Ala312Val Single submitter inherited retinal dystrophy
p.Ala345Thr Single submitter Bardet-Biedl syndrome
p.Ala373Asp Single submitter Bardet-Biedl syndrome
p.Ala396Thr Single submitter Inborn genetic diseases
p.Ala423Thr Single submitter Inborn genetic diseases
p.Ala431Thr Single submitter Inborn genetic diseases
p.Ala49Glu Single submitter Inborn genetic diseases
p.Ala513Thr Single submitter
p.Arg124Gly Single submitter Bardet-Biedl syndrome
p.Arg143Ser Single submitter Bardet-Biedl syndrome
p.Arg149Leu Single submitter Bardet-Biedl syndrome
p.Arg157Thr Single submitter Bardet-Biedl syndrome
p.Arg179Lys Single submitter inherited retinal dystrophy
p.Arg237Lys Single submitter Bardet-Biedl syndrome
p.Arg242Cys Single submitter
p.Arg347Gln Single submitter Bardet-Biedl syndrome
p.Arg350Ser Single submitter Bardet-Biedl syndrome
p.Arg421= Single submitter inherited retinal dystrophy
p.Asn306Ser Single submitter Bardet-Biedl syndrome 8
p.Asn364Asp Single submitter Inborn genetic diseases
p.Asn429del Single submitter Bardet-Biedl syndrome
p.Asn429dup Single submitter Bardet-Biedl syndrome
p.Asn429His Single submitter Bardet-Biedl syndrome
p.Asn435Ser Single submitter
p.Asp211Tyr Single submitter Bardet-Biedl syndrome
p.Asp259Val Single submitter Bardet-Biedl syndrome
p.Asp25Tyr Single submitter Bardet-Biedl syndrome
p.Asp272Asn Single submitter Bardet-Biedl syndrome
p.Asp272Glu Single submitter Bardet-Biedl syndrome
p.Asp286Gly Single submitter Bardet-Biedl syndrome
p.Asp412Tyr Single submitter Bardet-Biedl syndrome
p.Asp500Gly Single submitter
p.Asp68Val Single submitter
p.Asp70Val Single submitter Bardet-Biedl syndrome 8
p.Cys234Ser Single submitter Bardet-Biedl syndrome
p.Cys27Arg Single submitter Bardet-Biedl syndrome
p.Cys27Tyr Single submitter inherited retinal dystrophy
p.Gln128His Single submitter Bardet-Biedl syndrome
p.Gln128Pro Single submitter Bardet-Biedl syndrome
p.Gln137Arg Single submitter Bardet-Biedl syndrome
p.Gln21= Single submitter inherited retinal dystrophy
p.Gln21Arg Single submitter Bardet-Biedl syndrome
p.Gln341Arg Single submitter Bardet-Biedl syndrome
p.Glu197Gln Single submitter Bardet-Biedl syndrome
p.Glu243Lys Single submitter Bardet-Biedl syndrome
p.Glu291Gly Single submitter Bardet-Biedl syndrome
p.Glu303Asp Single submitter Bardet-Biedl syndrome
p.Glu32Lys Single submitter Bardet-Biedl syndrome 8
p.Glu432Asp Single submitter inherited retinal dystrophy
p.Glu441Asp Single submitter Bardet-Biedl syndrome 8
p.Gly104Glu Single submitter Bardet-Biedl syndrome
p.Gly104Trp Single submitter Inborn genetic diseases
p.Gly121Asp Single submitter Inborn genetic diseases
p.Gly121Ser Single submitter Bardet-Biedl syndrome
p.Gly133Asp Single submitter Bardet-Biedl syndrome
p.Gly133Val Single submitter Inborn genetic diseases
p.Gly172Arg Single submitter Bardet-Biedl syndrome
p.Gly297Glu Single submitter Bardet-Biedl syndrome
p.Gly479Val Single submitter Inborn genetic diseases
p.His405Arg Single submitter Bardet-Biedl syndrome
p.His417Leu Single submitter
p.His446= Single submitter Bardet-Biedl syndrome 8
p.His446Arg Single submitter Inborn genetic diseases
p.His463Leu Single submitter Bardet-Biedl syndrome
p.His498Gln Single submitter
p.His498Leu Single submitter inherited retinal dystrophy
p.His498Tyr Single submitter Inborn genetic diseases
p.His503Tyr Single submitter Inborn genetic diseases
p.Ile139Leu Single submitter Bardet-Biedl syndrome
p.Ile139Met Single submitter retinitis pigmentosa
p.Ile175Met Single submitter
p.Ile301Met Single submitter Bardet-Biedl syndrome
p.Ile357Val Single submitter Bardet-Biedl syndrome
p.Ile478Phe Single submitter Bardet-Biedl syndrome
p.Ile74Thr Single submitter Bardet-Biedl syndrome
p.Ile84Met Single submitter
p.Leu10Pro Single submitter Inborn genetic diseases
p.Leu177Phe Single submitter Bardet-Biedl syndrome
p.Leu191Phe Single submitter Bardet-Biedl syndrome
p.Leu210Phe Single submitter Bardet-Biedl syndrome
p.Leu262Arg Single submitter Bardet-Biedl syndrome
p.Leu294Arg Single submitter
p.Leu362Val Single submitter Bardet-Biedl syndrome
p.Leu368= Single submitter Bardet-Biedl syndrome
p.Leu415Phe Single submitter Inborn genetic diseases
p.Leu453_Ala457del Single submitter
p.Leu504Ter Single submitter
p.Leu515Pro Single submitter Bardet-Biedl syndrome
p.Leu96Pro Single submitter Bardet-Biedl syndrome
p.Lys190Asn Single submitter
p.Lys253Arg Single submitter Bardet-Biedl syndrome
p.Lys287Arg Single submitter
p.Lys287Glu Single submitter Bardet-Biedl syndrome 8
p.Lys316Gln Single submitter Bardet-Biedl syndrome 8
p.Lys320Glu Single submitter inherited retinal dystrophy
p.Lys477Glu Single submitter
p.Lys490Arg Single submitter Inborn genetic diseases
p.Met240Ile Single submitter Bardet-Biedl syndrome
p.Met30Val Single submitter Bardet-Biedl syndrome 8
p.Met355Val Single submitter Inborn genetic diseases
p.Met442Val Single submitter Bardet-Biedl syndrome
p.Met514Ile Single submitter Bardet-Biedl syndrome
p.Met61Val Single submitter
p.Phe15Ser Single submitter Bardet-Biedl syndrome 8
p.Phe248Leu Single submitter Bardet-Biedl syndrome
p.Phe383Leu Single submitter Bardet-Biedl syndrome
p.Phe512Leu Single submitter Inborn genetic diseases
p.Pro105Ser Single submitter Bardet-Biedl syndrome
p.Pro111Leu Single submitter Bardet-Biedl syndrome
p.Pro142Leu Single submitter Bardet-Biedl syndrome 8
p.Pro170Leu Single submitter Bardet-Biedl syndrome
p.Pro173Ser Single submitter Bardet-Biedl syndrome
p.Pro289Leu Single submitter Bardet-Biedl syndrome 8
p.Pro289Ser Single submitter Bardet-Biedl syndrome
p.Pro342= Single submitter Bardet-Biedl syndrome
p.Pro35Ser Single submitter Bardet-Biedl syndrome
p.Pro462Arg Single submitter Bardet-Biedl syndrome
p.Pro467Ser Single submitter
p.Ser129Asn Single submitter Bardet-Biedl syndrome
p.Ser155Pro Single submitter TTC8-related disorder
p.Ser178Cys Single submitter Bardet-Biedl syndrome 8
p.Ser186Phe Single submitter Inborn genetic diseases
p.Ser220Phe Single submitter Bardet-Biedl syndrome
p.Ser250Leu Single submitter Bardet-Biedl syndrome
p.Ser2Ile Single submitter Bardet-Biedl syndrome
p.Ser34= Single submitter inherited retinal dystrophy
p.Ser382Leu Single submitter Bardet-Biedl syndrome 8
p.Ser3Trp Single submitter Bardet-Biedl syndrome
p.Ser475Phe Single submitter Bardet-Biedl syndrome
p.Ser475Thr Single submitter Bardet-Biedl syndrome
p.Thr102Ile Single submitter retinitis pigmentosa
p.Thr113Ala Single submitter retinitis pigmentosa 51
p.Thr120Ala Single submitter inherited retinal dystrophy
p.Thr127Lys Single submitter Bardet-Biedl syndrome
p.Thr134Ala Single submitter Bardet-Biedl syndrome 8
p.Thr141= Single submitter inherited retinal dystrophy
p.Thr141Ser Single submitter
p.Thr144Pro Single submitter Bardet-Biedl syndrome
p.Thr208Pro Single submitter Inborn genetic diseases
p.Thr217Lys Single submitter Bardet-Biedl syndrome 8
p.Thr28Lys Single submitter Bardet-Biedl syndrome
p.Thr28Met Single submitter Inborn genetic diseases
p.Thr293Asn Single submitter Bardet-Biedl syndrome
p.Thr413Arg Single submitter Bardet-Biedl syndrome 8
p.Thr473Ile Single submitter Bardet-Biedl syndrome
p.Thr501Ile Single submitter Inborn genetic diseases
p.Thr59Ile Single submitter Bardet-Biedl syndrome 8
p.Trp12Gly Single submitter Bardet-Biedl syndrome
p.Trp226Arg Single submitter Bardet-Biedl syndrome
p.Trp227Cys Single submitter Bardet-Biedl syndrome 8
p.Trp400Ser Single submitter inherited retinal dystrophy
p.Trp51Arg Single submitter inherited retinal dystrophy
p.Trp51Gly Single submitter
p.Trp51Leu Single submitter
p.Tyr146Cys Single submitter Inborn genetic diseases
p.Tyr146His Single submitter Bardet-Biedl syndrome
p.Tyr14Asn Single submitter Inborn genetic diseases
p.Tyr14Cys Single submitter
p.Tyr222Cys Single submitter Bardet-Biedl syndrome
p.Tyr235Cys Single submitter Bardet-Biedl syndrome
p.Tyr263His Single submitter
p.Tyr302Ser Single submitter Bardet-Biedl syndrome 8
p.Tyr315Asp Single submitter Bardet-Biedl syndrome
p.Tyr338Phe Single submitter Bardet-Biedl syndrome 8
p.Tyr358Phe Single submitter Bardet-Biedl syndrome