BBS4 — 856 ClinVar variants

Pathogenic 51

• c.1248+1G>T Multiple submitters Bardet-Biedl syndrome
• c.157-2A>G Multiple submitters Bardet-Biedl syndrome
• c.157-3C>G Multiple submitters Bardet-Biedl syndrome
• c.332+8T>C Multiple submitters Bardet-Biedl syndrome
• c.76+1G>T Multiple submitters Bardet-Biedl syndrome
• p.Gln11Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln63Ter Multiple submitters Bardet-Biedl syndrome
• p.Ile172fs Multiple submitters Bardet-Biedl syndrome
• p.Ser409fs Multiple submitters Bardet-Biedl syndrome
• c.157-1G>T Single submitter Bardet-Biedl syndrome
• c.220+1G>C Single submitter Bardet-Biedl syndrome
• c.(405+1_406-1 Single submitter inherited retinal dystrophy
• c.406-2A>C Single submitter Bardet-Biedl syndrome 4
• c.459+1G>A Single submitter Bardet-Biedl syndrome
• c.76+1G>A Single submitter Bardet-Biedl syndrome
• p.Ala228fs Single submitter Bardet-Biedl syndrome
• p.Ala456fs Single submitter Bardet-Biedl syndrome
• p.Ala74Thr Single submitter Bardet-Biedl syndrome 4
• p.Ala94fs Single submitter Bardet-Biedl syndrome
• p.Arg260fs Single submitter Bardet-Biedl syndrome
• p.Arg295Pro Single submitter Bardet-Biedl syndrome
• p.Asn152fs Single submitter Bardet-Biedl syndrome
• p.Asp303_Trp304insTer Single submitter Bardet-Biedl syndrome
• p.Asp442fs Single submitter Bardet-Biedl syndrome
• p.Cys279fs Single submitter Bardet-Biedl syndrome
• p.Gln157fs Single submitter Bardet-Biedl syndrome
• p.Gln214Ter Single submitter Bardet-Biedl syndrome
• p.Gln318Ter Single submitter Bardet-Biedl syndrome
• p.Gln58Ter Single submitter Bardet-Biedl syndrome 4
• p.Gln63fs Single submitter Bardet-Biedl syndrome
• p.Gln73fs Single submitter Bardet-Biedl syndrome
• p.Glu339fs Single submitter Bardet-Biedl syndrome
• p.Gly209Glu Single submitter Bardet-Biedl syndrome
• p.Ile290fs Single submitter
• p.Leu208Ter Single submitter Bardet-Biedl syndrome
• p.Leu376fs Single submitter Bardet-Biedl syndrome
• p.Lys116Ter Single submitter Bardet-Biedl syndrome
• p.Lys153fs Single submitter Bardet-Biedl syndrome
• p.Lys220fs Single submitter Bardet-Biedl syndrome
• p.Lys438Ter Single submitter Bardet-Biedl syndrome 4
• p.Lys454Ter Single submitter Bardet-Biedl syndrome
• p.Trp304Ter Single submitter Bardet-Biedl syndrome
• p.Tyr145Ter Single submitter Bardet-Biedl syndrome
• p.Tyr171Ter Single submitter Bardet-Biedl syndrome
• p.Tyr361Ter Single submitter Bardet-Biedl syndrome
• p.Tyr43Ter Single submitter Bardet-Biedl syndrome
• p.Val374fs Single submitter Bardet-Biedl syndrome
• c.157-?_220+?del No assertion criteria Bardet-Biedl syndrome
• c.406-2A>G No assertion criteria Bardet-Biedl syndrome 4
• c.77-216del No assertion criteria Bardet-Biedl syndrome
• p.Tyr308Ter No assertion criteria Bardet-Biedl syndrome 4

Pathogenic/Likely pathogenic 31

• c.1064_1106+97del Multiple submitters Bardet-Biedl syndrome
• c.1106+2T>A Multiple submitters Bardet-Biedl syndrome
• c.1248+1G>A Multiple submitters Bardet-Biedl syndrome
• c.1248+2T>C Multiple submitters Bardet-Biedl syndrome 4
• c.220+1G>A Multiple submitters Bardet-Biedl syndrome
• c.332+2_332+3insTT Multiple submitters Bardet-Biedl syndrome 4
• c.642+2T>G Multiple submitters Bardet-Biedl syndrome
• c.712-1G>A Multiple submitters Bardet-Biedl syndrome
• c.76+2T>C Multiple submitters Bardet-Biedl syndrome
• p.Arg295Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln19Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln23Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln394Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln422Ter Multiple submitters Bardet-Biedl syndrome 4
• p.Gln459Ter Multiple submitters Bardet-Biedl syndrome
• p.Glu136Ter Multiple submitters Bardet-Biedl syndrome
• p.Glu432fs Multiple submitters Bardet-Biedl syndrome
• p.Glu4Ter Multiple submitters Bardet-Biedl syndrome
• p.Leu114fs Multiple submitters Bardet-Biedl syndrome
• p.Leu213Ter Multiple submitters Bardet-Biedl syndrome
• p.Leu310fs Multiple submitters Bardet-Biedl syndrome
• p.Leu381fs Multiple submitters Bardet-Biedl syndrome 4
• p.Lys358fs Multiple submitters Bardet-Biedl syndrome 4
• p.Met1Thr Multiple submitters Bardet-Biedl syndrome 4
• p.Met1Val Multiple submitters Bardet-Biedl syndrome
• p.Pro30fs Multiple submitters Bardet-Biedl syndrome
• p.Ser464fs Multiple submitters Bardet-Biedl syndrome
• p.Thr206fs Multiple submitters BBS4-related disorder
• p.Tyr259_Arg260delinsTer Multiple submitters retinitis pigmentosa
• p.Tyr320Ter Multiple submitters BBS4-related disorder
• p.Val440fs Multiple submitters Bardet-Biedl syndrome

Likely pathogenic 71

• c.1249-2A>C Multiple submitters Bardet-Biedl syndrome 4
• c.24+1G>A Multiple submitters Bardet-Biedl syndrome 4
• c.24+1G>T Multiple submitters Bardet-Biedl syndrome
• c.333-2A>C Multiple submitters Bardet-Biedl syndrome
• c.642+1G>A Multiple submitters Bardet-Biedl syndrome 4
• c.711+1G>A Multiple submitters Bardet-Biedl syndrome 4
• c.864+1G>A Multiple submitters Bardet-Biedl syndrome
• p.Ala467fs Multiple submitters Bardet-Biedl syndrome 4
• p.Gln35Ter Multiple submitters Bardet-Biedl syndrome 4
• p.Glu387Ter Multiple submitters Bardet-Biedl syndrome 4
• p.Ile70fs Multiple submitters Bardet-Biedl syndrome 4
• c.1036+1G>A Single submitter Bardet-Biedl syndrome
• c.1037-1G>A Single submitter Bardet-Biedl syndrome 4
• c.1037-2A>G Single submitter Bardet-Biedl syndrome 4
• c.1106+1G>A Single submitter Bardet-Biedl syndrome 4
• c.1106+2T>C Single submitter Bardet-Biedl syndrome 4
• c.1234_1248+5del Single submitter Bardet-Biedl syndrome
• c.1248+2dup Single submitter Bardet-Biedl syndrome 4
• c.1249-3_1259del Single submitter Bardet-Biedl syndrome
• c.156+1G>A Single submitter Bardet-Biedl syndrome 4
• c.221-1047_405+2899del Single submitter Bardet-Biedl syndrome 4
• c.24+2T>G Single submitter Bardet-Biedl syndrome
• c.332+1G>T Single submitter Bardet-Biedl syndrome
• c.333-1G>C Single submitter Bardet-Biedl syndrome
• c.405+2T>G Single submitter Bardet-Biedl syndrome
• c.460-2A>T Single submitter Bardet-Biedl syndrome 4
• c.642+1G>T Single submitter Bardet-Biedl syndrome
• c.642+3A>G Single submitter inherited retinal dystrophy
• c.643-2A>T Single submitter Bardet-Biedl syndrome
• c.77-2A>G Single submitter Bardet-Biedl syndrome
• c.864+2T>C Single submitter Bardet-Biedl syndrome 4
• c.865-3_865-2del Single submitter Bardet-Biedl syndrome
• p.Ala2fs Single submitter Bardet-Biedl syndrome 4
• p.Ala364Glu Single submitter Bardet-Biedl syndrome 4
• p.Asn375fs Single submitter Bardet-Biedl syndrome 4
• p.Asp156fs Single submitter Bardet-Biedl syndrome 4
• p.Cys51fs Single submitter Bardet-Biedl syndrome 4
• p.Gln99Ter Single submitter Bardet-Biedl syndrome 4
• p.Glu196fs Single submitter Bardet-Biedl syndrome 4
• p.Glu203fs Single submitter Bardet-Biedl syndrome 4
• p.Glu412fs Single submitter Bardet-Biedl syndrome 4
• p.Gly277Val Single submitter Bardet-Biedl syndrome
• p.His40fs Single submitter Bardet-Biedl syndrome 4
• p.Leu130fs Single submitter Bardet-Biedl syndrome 4
• p.Leu272_Trp273insTer Single submitter Bardet-Biedl syndrome 4
• p.Leu32Ter Single submitter Bardet-Biedl syndrome 4
• p.Leu373Ter Single submitter Bardet-Biedl syndrome 4
• p.Leu468fs Single submitter Bardet-Biedl syndrome 4
• p.Leu59fs Single submitter Bardet-Biedl syndrome 4
• p.Lys20fs Single submitter Bardet-Biedl syndrome 4
• p.Lys237fs Single submitter Bardet-Biedl syndrome 4
• p.Lys34fs Single submitter Bardet-Biedl syndrome 4
• p.Lys369fs Single submitter Bardet-Biedl syndrome 4
• p.Ser138fs Single submitter Bardet-Biedl syndrome 4
• p.Ser291fs Single submitter Bardet-Biedl syndrome 4
• p.Ser451Ter Single submitter Bardet-Biedl syndrome 4
• p.Ser97fs Single submitter Bardet-Biedl syndrome 4
• p.Thr234fs Single submitter Bardet-Biedl syndrome 4
• p.Thr512fs Single submitter Bardet-Biedl syndrome 4
• p.Trp135Ter Single submitter Bardet-Biedl syndrome 4
• p.Trp436Ter Single submitter Bardet-Biedl syndrome 4
• p.Tyr171fs Single submitter Bardet-Biedl syndrome 4
• p.Tyr231Ter Single submitter Bardet-Biedl syndrome 4
• p.Tyr395Ter Single submitter Bardet-Biedl syndrome 4
• p.Val402fs Single submitter Bardet-Biedl syndrome 4
• c.1450+1G>A No assertion criteria BBS4-related disorder
• c.77-1G>T No assertion criteria BBS4-related disorder
• p.Arg9Ter No assertion criteria BBS4-related disorder
• p.Cys264Phe No assertion criteria Bardet-Biedl syndrome 4 ⚠
• p.Gly142Arg No assertion criteria Bardet-Biedl syndrome
• p.Trp37Ter No assertion criteria BBS4-related disorder

Conflicting classifications of pathogenicity 36

• c.1106+3A>G Single submitter
• c.1107-10_1107-7del Single submitter retinitis pigmentosa
• c.1107-7G>A Single submitter Bardet-Biedl syndrome
• c.1450+10T>C Single submitter Bardet-Biedl syndrome
• c.1450+2_1450+5del Single submitter Bardet-Biedl syndrome
• c.1450+2T>C Single submitter Bardet-Biedl syndrome 4
• c.24+8C>T Single submitter Bardet-Biedl syndrome
• c.405+7A>G Single submitter Bardet-Biedl syndrome
• c.864+1G>C Single submitter retinitis pigmentosa
• c.*611C>T Single submitter Bardet-Biedl syndrome 4
• p.Ala108Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala228= Single submitter Bardet-Biedl syndrome
• p.Ala288= Single submitter Bardet-Biedl syndrome
• p.Ala393= Single submitter Bardet-Biedl syndrome
• p.Ala504= Single submitter Bardet-Biedl syndrome
• p.Asn350Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asp368Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Cys51= Single submitter Bardet-Biedl syndrome 4
• p.Glu514fs Single submitter retinitis pigmentosa
• p.Gly386= Single submitter Bardet-Biedl syndrome
• p.Ile516fs Single submitter Bardet-Biedl syndrome
• p.Ile70Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu343= Single submitter Bardet-Biedl syndrome
• p.Leu405= Single submitter Bardet-Biedl syndrome
• p.Leu481fs Single submitter Bardet-Biedl syndrome 4
• p.Lys46Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Met472Val Single submitter Bardet-Biedl syndrome ⚠
• p.Pro13Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Pro21= Single submitter Bardet-Biedl syndrome
• p.Thr480= Single submitter Bardet-Biedl syndrome
• p.Thr480Met Single submitter Inborn genetic diseases ⚠
• p.Thr488Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr361= Single submitter Bardet-Biedl syndrome
• p.Val380= Single submitter Bardet-Biedl syndrome
• p.Val430Phe Single submitter Inborn genetic diseases ⚠
• p.Ala7Val No assertion criteria BBS4-related disorder ⚠

Benign 31

• c.1036+114G>A Multiple submitters Bardet-Biedl syndrome 4
• c.1106+20T>C Multiple submitters Bardet-Biedl syndrome
• c.1248+68G>A Multiple submitters Bardet-Biedl syndrome 4
• c.1249-35G>C Multiple submitters
• c.405+17C>T Multiple submitters Bardet-Biedl syndrome
• c.643-102T>C Multiple submitters Bardet-Biedl syndrome 4
• c.76+19G>T Multiple submitters Bardet-Biedl syndrome
• c.77-6G>A Multiple submitters Bardet-Biedl syndrome
• c.-17C>T Multiple submitters Bardet-Biedl syndrome 4
• c.-38C>A Multiple submitters Bardet-Biedl syndrome 4
• c.*1G>C Multiple submitters Bardet-Biedl syndrome 4
• c.*608G>T Multiple submitters Bardet-Biedl syndrome 4
• p.Gln60= Multiple submitters Bardet-Biedl syndrome 4
• p.Gly250Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile354Thr Multiple submitters Bardet-Biedl syndrome
• p.Phe302= Multiple submitters Bardet-Biedl syndrome
• c.1107-14T>G Single submitter Bardet-Biedl syndrome
• c.1248+11dup Single submitter Bardet-Biedl syndrome
• c.1451-14del Single submitter Bardet-Biedl syndrome
• c.24+9C>T Single submitter Bardet-Biedl syndrome
• c.406-11del Single submitter Bardet-Biedl syndrome
• c.459+14G>C Single submitter Bardet-Biedl syndrome
• c.864+12del Single submitter Bardet-Biedl syndrome
• c.864+12dup Single submitter Bardet-Biedl syndrome
• c.-17C>A No assertion criteria Bardet-Biedl syndrome
• c.-6G>A No assertion criteria Bardet-Biedl syndrome
• p.Glu3Ala No assertion criteria Bardet-Biedl syndrome
• p.Ile31Val No assertion criteria Bardet-Biedl syndrome
• p.Thr10fs No assertion criteria Bardet-Biedl syndrome
• p.Val6= No assertion criteria Bardet-Biedl syndrome
• p.Val6Ala No assertion criteria Bardet-Biedl syndrome

Benign/Likely benign 6

• c.332+27dup Multiple submitters Bardet-Biedl syndrome
• c.460-20T>C Multiple submitters Bardet-Biedl syndrome
• c.712-17C>G Multiple submitters Bardet-Biedl syndrome
• p.Asn408dup Multiple submitters Bardet-Biedl syndrome
• p.Glu412Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro494= No assertion criteria

Likely benign 316

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

• c.1107-11G>C Multiple submitters Bardet-Biedl syndrome
• c.1451-45T>C Multiple submitters Bardet-Biedl syndrome
• c.157-19A>G Multiple submitters Bardet-Biedl syndrome 4
• c.24+18C>G Multiple submitters Bardet-Biedl syndrome
• c.642+14_642+20del Multiple submitters Bardet-Biedl syndrome
• c.643-6T>C Multiple submitters Bardet-Biedl syndrome 4
• c.712-14T>A Multiple submitters Bardet-Biedl syndrome
• c.712-15G>C Multiple submitters Bardet-Biedl syndrome 4
• c.76+18dup Multiple submitters Bardet-Biedl syndrome
• c.*43G>T Multiple submitters Bardet-Biedl syndrome 4
• p.Asn390= Multiple submitters Bardet-Biedl syndrome
• p.Glu136= Multiple submitters Bardet-Biedl syndrome
• p.Glu4= Multiple submitters Bardet-Biedl syndrome
• p.His167= Multiple submitters Bardet-Biedl syndrome
• p.Leu310= Multiple submitters Bardet-Biedl syndrome
• p.Leu315= Multiple submitters Bardet-Biedl syndrome
• p.Thr437= Multiple submitters Bardet-Biedl syndrome
• c.1036+11T>C Single submitter Bardet-Biedl syndrome
• c.1036+15T>C Single submitter Bardet-Biedl syndrome
• c.1036+18G>A Single submitter Bardet-Biedl syndrome
• c.1036+19G>A Single submitter Bardet-Biedl syndrome
• c.1036+19G>C Single submitter Bardet-Biedl syndrome
• c.1036+8A>G Single submitter Bardet-Biedl syndrome
• c.1106+11T>G Single submitter Bardet-Biedl syndrome
• c.1106+13T>C Single submitter Bardet-Biedl syndrome
• c.1106+14T>G Single submitter Bardet-Biedl syndrome
• c.1106+17G>A Single submitter Bardet-Biedl syndrome
• c.1106+7A>C Single submitter Bardet-Biedl syndrome
• c.1106+7A>G Single submitter Bardet-Biedl syndrome
• c.1107-13C>G Single submitter Bardet-Biedl syndrome
• c.1107-13C>T Single submitter Bardet-Biedl syndrome
• c.1107-15C>T Single submitter Bardet-Biedl syndrome
• c.1107-17A>G Single submitter Bardet-Biedl syndrome
• c.1107-19G>C Single submitter Bardet-Biedl syndrome
• c.1107-7G>T Single submitter Bardet-Biedl syndrome
• c.1107-9C>G Single submitter Bardet-Biedl syndrome
• c.1248+15A>C Single submitter Bardet-Biedl syndrome
• c.1248+18T>G Single submitter Bardet-Biedl syndrome
• c.1249-11G>A Single submitter Bardet-Biedl syndrome
• c.1249-12T>C Single submitter Bardet-Biedl syndrome
• c.1249-15C>A Single submitter Bardet-Biedl syndrome
• c.1249-5A>C Single submitter Bardet-Biedl syndrome
• c.1249-8dup Single submitter Bardet-Biedl syndrome
• c.1450+11A>G Single submitter Bardet-Biedl syndrome
• c.1450+12C>G Single submitter Bardet-Biedl syndrome
• c.1450+12C>T Single submitter Bardet-Biedl syndrome
• c.1450+17_1450+22del Single submitter Bardet-Biedl syndrome
• c.1450+7C>T Single submitter Bardet-Biedl syndrome
• c.1450+9A>G Single submitter Bardet-Biedl syndrome
• c.1451-14T>C Single submitter Bardet-Biedl syndrome
• c.1451-20A>C Single submitter Bardet-Biedl syndrome
• c.1451-20A>G Single submitter Bardet-Biedl syndrome
• c.1451-4C>T Single submitter Bardet-Biedl syndrome
• c.1451-6dup Single submitter Bardet-Biedl syndrome
• c.1451-7T>A Single submitter Bardet-Biedl syndrome
• c.156+10T>G Single submitter Bardet-Biedl syndrome
• c.156+12C>T Single submitter Bardet-Biedl syndrome
• c.156+14A>G Single submitter Bardet-Biedl syndrome
• c.156+16A>G Single submitter Bardet-Biedl syndrome
• c.156+9T>C Single submitter Bardet-Biedl syndrome
• c.157-12T>G Single submitter Bardet-Biedl syndrome
• c.157-13C>T Single submitter Bardet-Biedl syndrome
• c.157-15T>G Single submitter Bardet-Biedl syndrome
• c.157-20C>G Single submitter Bardet-Biedl syndrome
• c.157-20C>T Single submitter Bardet-Biedl syndrome
• c.157-4T>C Single submitter Bardet-Biedl syndrome
• c.157-6T>C Single submitter Bardet-Biedl syndrome
• c.157-8T>A Single submitter
• c.157-9C>G Single submitter Bardet-Biedl syndrome
• c.157-9C>T Single submitter Bardet-Biedl syndrome
• c.220+10A>G Single submitter Bardet-Biedl syndrome
• c.220+16_220+18del Single submitter Bardet-Biedl syndrome
• c.220+18T>A Single submitter Bardet-Biedl syndrome
• c.220+19G>A Single submitter Bardet-Biedl syndrome
• c.221-14C>T Single submitter Bardet-Biedl syndrome
• c.221-20T>C Single submitter Bardet-Biedl syndrome
• c.24+11A>T Single submitter Bardet-Biedl syndrome
• c.24+16C>G Single submitter Bardet-Biedl syndrome
• c.24+16C>T Single submitter Bardet-Biedl syndrome
• c.24+17T>C Single submitter Bardet-Biedl syndrome
• c.24+18_24+19del Single submitter Bardet-Biedl syndrome
• c.24+18C>A Single submitter Bardet-Biedl syndrome
• c.24+18C>T Single submitter Bardet-Biedl syndrome
• c.24+7G>A Single submitter Bardet-Biedl syndrome
• c.24+7G>C Single submitter Bardet-Biedl syndrome
• c.24+8C>A Single submitter Bardet-Biedl syndrome
• c.25-12A>G Single submitter Bardet-Biedl syndrome
• c.25-16A>G Single submitter Bardet-Biedl syndrome
• c.25-18C>T Single submitter Bardet-Biedl syndrome
• c.332+14A>T Single submitter Bardet-Biedl syndrome
• c.332+16del Single submitter Bardet-Biedl syndrome
• c.333-10T>C Single submitter Bardet-Biedl syndrome
• c.333-12T>C Single submitter Bardet-Biedl syndrome
• c.333-13A>G Single submitter Bardet-Biedl syndrome
• c.333-15A>C Single submitter Bardet-Biedl syndrome
• c.333-18A>G Single submitter Bardet-Biedl syndrome
• c.333-20G>C Single submitter Bardet-Biedl syndrome
• c.333-9C>A Single submitter Bardet-Biedl syndrome
• c.405+10G>C Single submitter Bardet-Biedl syndrome
• c.405+18A>C Single submitter Bardet-Biedl syndrome
• c.406-16T>C Single submitter Bardet-Biedl syndrome
• c.406-4C>T Single submitter Bardet-Biedl syndrome
• c.459+13A>G Single submitter Bardet-Biedl syndrome
• c.459+15T>A Single submitter Bardet-Biedl syndrome
• c.460-15T>C Single submitter Bardet-Biedl syndrome
• c.460-5G>A Single submitter Bardet-Biedl syndrome
• c.587+12T>C Single submitter Bardet-Biedl syndrome
• c.587+16T>A Single submitter Bardet-Biedl syndrome
• c.587+17_587+21del Single submitter Bardet-Biedl syndrome
• c.587+17C>A Single submitter Bardet-Biedl syndrome
• c.587+17C>G Single submitter Bardet-Biedl syndrome
• c.587+19T>G Single submitter Bardet-Biedl syndrome
• c.587+7G>C Single submitter Bardet-Biedl syndrome
• c.588-13C>T Single submitter Bardet-Biedl syndrome
• c.588-14T>C Single submitter Bardet-Biedl syndrome
• c.588-16C>T Single submitter Bardet-Biedl syndrome
• c.588-17G>T Single submitter Bardet-Biedl syndrome
• c.588-4G>T Single submitter Bardet-Biedl syndrome
• c.588-7G>A Single submitter Bardet-Biedl syndrome
• c.588-9_588-8del Single submitter Bardet-Biedl syndrome
• c.588-9A>G Single submitter Bardet-Biedl syndrome
• c.642+11C>T Single submitter Bardet-Biedl syndrome
• c.642+11del Single submitter Bardet-Biedl syndrome
• c.642+12T>C Single submitter Bardet-Biedl syndrome
• c.642+13_642+14del Single submitter Bardet-Biedl syndrome
• c.642+14T>A Single submitter Bardet-Biedl syndrome
• c.642+15_642+16del Single submitter Bardet-Biedl syndrome
• c.642+20C>T Single submitter Bardet-Biedl syndrome
• c.643-11T>C Single submitter Bardet-Biedl syndrome
• c.643-19T>C Single submitter Bardet-Biedl syndrome
• c.643-20_643-19del Single submitter Bardet-Biedl syndrome
• c.643-9T>G Single submitter Bardet-Biedl syndrome
• c.711+12TG[3] Single submitter Bardet-Biedl syndrome
• c.711+13del Single submitter Bardet-Biedl syndrome
• c.711+3_711+12dup Single submitter Bardet-Biedl syndrome
• c.711+8A>T Single submitter Bardet-Biedl syndrome
• c.711+9G>A Single submitter Bardet-Biedl syndrome
• c.712-10A>G Single submitter Bardet-Biedl syndrome
• c.712-13G>A Single submitter Bardet-Biedl syndrome
• c.712-8G>A Single submitter Bardet-Biedl syndrome
• c.76+10C>T Single submitter Bardet-Biedl syndrome
• c.76+16C>T Single submitter Bardet-Biedl syndrome
• c.76+17A>G Single submitter Bardet-Biedl syndrome
• c.76+19G>C Single submitter Bardet-Biedl syndrome
• c.76+7A>G Single submitter Bardet-Biedl syndrome
• c.77-17C>T Single submitter Bardet-Biedl syndrome
• c.77-4C>G Single submitter Bardet-Biedl syndrome
• c.77-4C>T Single submitter Bardet-Biedl syndrome
• c.864+10C>T Single submitter Bardet-Biedl syndrome
• c.864+17G>C Single submitter Bardet-Biedl syndrome
• c.864+20_864+23del Single submitter Bardet-Biedl syndrome
• c.864+20C>G Single submitter Bardet-Biedl syndrome
• c.864+20C>T Single submitter Bardet-Biedl syndrome
• c.864+7G>A Single submitter Bardet-Biedl syndrome
• c.864+9C>T Single submitter Bardet-Biedl syndrome
• c.865-12TC[3] Single submitter Bardet-Biedl syndrome
• c.865-13T>C Single submitter Bardet-Biedl syndrome
• c.865-16C>G Single submitter Bardet-Biedl syndrome
• c.865-22G>C Single submitter
• c.865-5C>G Single submitter Bardet-Biedl syndrome
• c.865-5C>T Single submitter Bardet-Biedl syndrome
• c.*522A>G Single submitter Bardet-Biedl syndrome 4
• c.*691G>A Single submitter Bardet-Biedl syndrome 4
• p.Ala120= Single submitter Bardet-Biedl syndrome
• p.Ala2= Single submitter Bardet-Biedl syndrome
• p.Ala221= Single submitter Bardet-Biedl syndrome
• p.Ala238= Single submitter Bardet-Biedl syndrome
• p.Ala242= Single submitter Bardet-Biedl syndrome
• p.Ala26= Single submitter Bardet-Biedl syndrome
• p.Ala263= Single submitter Bardet-Biedl syndrome
• p.Ala300= Single submitter Bardet-Biedl syndrome
• p.Ala321= Single submitter Bardet-Biedl syndrome
• p.Ala329= Single submitter Bardet-Biedl syndrome
• p.Ala362= Single submitter Bardet-Biedl syndrome
• p.Ala364= Single submitter Bardet-Biedl syndrome
• p.Ala379Val Single submitter Bardet-Biedl syndrome
• p.Ala391= Single submitter Bardet-Biedl syndrome
• p.Ala421= Single submitter Bardet-Biedl syndrome
• p.Ala426= Single submitter Bardet-Biedl syndrome
• p.Ala433= Single submitter Bardet-Biedl syndrome
• p.Ala471= Single submitter Bardet-Biedl syndrome
• p.Ala94= Single submitter Bardet-Biedl syndrome
• p.Arg109= Single submitter Bardet-Biedl syndrome
• p.Arg22= Single submitter Bardet-Biedl syndrome
• p.Arg295= Single submitter Bardet-Biedl syndrome
• p.Arg517= Single submitter Bardet-Biedl syndrome
• p.Asn125= Single submitter Bardet-Biedl syndrome
• p.Asn140= Single submitter Bardet-Biedl syndrome
• p.Asn152= Single submitter Bardet-Biedl syndrome
• p.Asn160= Single submitter Bardet-Biedl syndrome
• p.Asn163= Single submitter Bardet-Biedl syndrome
• p.Asn165= Single submitter Bardet-Biedl syndrome
• p.Asn227= Single submitter Bardet-Biedl syndrome
• p.Asn275= Single submitter Bardet-Biedl syndrome
• p.Asn309= Single submitter Bardet-Biedl syndrome
• p.Asn408= Single submitter Bardet-Biedl syndrome
• p.Asn82= Single submitter Bardet-Biedl syndrome
• p.Asp102= Single submitter Bardet-Biedl syndrome
• p.Asp134= Single submitter Bardet-Biedl syndrome
• p.Asp156= Single submitter Bardet-Biedl syndrome
• p.Asp183= Single submitter Bardet-Biedl syndrome
• p.Asp185= Single submitter Bardet-Biedl syndrome
• p.Cys279= Single submitter Bardet-Biedl syndrome
• p.Gln155= Single submitter Bardet-Biedl syndrome
• p.Gln19= Single submitter Bardet-Biedl syndrome
• p.Gln247= Single submitter Bardet-Biedl syndrome
• p.Gln385= Single submitter Bardet-Biedl syndrome
• p.Gln394= Single submitter Bardet-Biedl syndrome
• p.Gln429= Single submitter Bardet-Biedl syndrome
• p.Gln459= Single submitter Bardet-Biedl syndrome
• p.Gln515= Single submitter Bardet-Biedl syndrome
• p.Gln58= Single submitter Bardet-Biedl syndrome
• p.Gln63= Single submitter Bardet-Biedl syndrome
• p.Glu203= Single submitter Bardet-Biedl syndrome
• p.Glu28= Single submitter Bardet-Biedl syndrome
• p.Glu3= Single submitter Bardet-Biedl syndrome
• p.Glu33= Single submitter Bardet-Biedl syndrome
• p.Glu339= Single submitter Bardet-Biedl syndrome
• p.Glu397= Single submitter Bardet-Biedl syndrome
• p.Glu432= Single submitter Bardet-Biedl syndrome
• p.Glu514= Single submitter Bardet-Biedl syndrome
• p.Glu518= Single submitter Bardet-Biedl syndrome
• p.Glu61Lys Single submitter Bardet-Biedl syndrome
• p.Gly115= Single submitter Bardet-Biedl syndrome
• p.Gly182= Single submitter Bardet-Biedl syndrome
• p.Gly250= Single submitter Bardet-Biedl syndrome
• p.Gly64= Single submitter Bardet-Biedl syndrome
• p.Gly81= Single submitter Bardet-Biedl syndrome
• p.His178= Single submitter Bardet-Biedl syndrome
• p.His249= Single submitter Bardet-Biedl syndrome
• p.Ile177= Single submitter Bardet-Biedl syndrome
• p.Ile290= Single submitter Bardet-Biedl syndrome
• p.Ile70= Single submitter Bardet-Biedl syndrome
• p.Leu114= Single submitter Bardet-Biedl syndrome
• p.Leu158= Single submitter Bardet-Biedl syndrome
• p.Leu169= Single submitter Bardet-Biedl syndrome
• p.Leu174= Single submitter Bardet-Biedl syndrome
• p.Leu179= Single submitter Bardet-Biedl syndrome
• p.Leu208= Single submitter Bardet-Biedl syndrome
• p.Leu211= Single submitter Bardet-Biedl syndrome
• p.Leu213= Single submitter Bardet-Biedl syndrome
• p.Leu215= Single submitter Bardet-Biedl syndrome
• p.Leu293= Single submitter Bardet-Biedl syndrome
• p.Leu307= Single submitter Bardet-Biedl syndrome
• p.Leu32= Single submitter Bardet-Biedl syndrome
• p.Leu340= Single submitter Bardet-Biedl syndrome
• p.Leu367= Single submitter Bardet-Biedl syndrome
• p.Leu381= Single submitter Bardet-Biedl syndrome
• p.Leu382= Single submitter Bardet-Biedl syndrome
• p.Leu424= Single submitter Bardet-Biedl syndrome
• p.Leu434= Single submitter Bardet-Biedl syndrome
• p.Leu481= Single submitter Bardet-Biedl syndrome
• p.Leu75= Single submitter Bardet-Biedl syndrome
• p.Leu79= Single submitter Bardet-Biedl syndrome
• p.Leu87= Single submitter Bardet-Biedl syndrome
• p.Leu89= Single submitter Bardet-Biedl syndrome
• p.Lys116= Single submitter Bardet-Biedl syndrome
• p.Lys118= Single submitter Bardet-Biedl syndrome
• p.Lys358= Single submitter Bardet-Biedl syndrome
• p.Lys446= Single submitter Bardet-Biedl syndrome
• p.Lys46= Single submitter Bardet-Biedl syndrome
• p.Lys519= Single submitter Bardet-Biedl syndrome
• p.Pro13= Single submitter Bardet-Biedl syndrome
• p.Pro271= Single submitter Bardet-Biedl syndrome
• p.Pro439= Single submitter Bardet-Biedl syndrome
• p.Pro443= Single submitter Bardet-Biedl syndrome
• p.Pro498= Single submitter Bardet-Biedl syndrome
• p.Ser244= Single submitter Bardet-Biedl syndrome
• p.Ser328= Single submitter Bardet-Biedl syndrome
• p.Ser403= Single submitter Bardet-Biedl syndrome
• p.Ser409= Single submitter Bardet-Biedl syndrome
• p.Ser86= Single submitter Bardet-Biedl syndrome
• p.Thr16= Single submitter Bardet-Biedl syndrome
• p.Thr170= Single submitter Bardet-Biedl syndrome
• p.Thr248= Single submitter Bardet-Biedl syndrome
• p.Thr316= Single submitter Bardet-Biedl syndrome
• p.Thr449= Single submitter Bardet-Biedl syndrome
• p.Thr452= Single submitter Bardet-Biedl syndrome
• p.Thr512= Single submitter Bardet-Biedl syndrome
• p.Thr92= Single submitter Bardet-Biedl syndrome
• p.Tyr124= Single submitter Bardet-Biedl syndrome
• p.Tyr171= Single submitter Bardet-Biedl syndrome
• p.Tyr191= Single submitter Bardet-Biedl syndrome
• p.Tyr212= Single submitter Bardet-Biedl syndrome
• p.Tyr236= Single submitter Bardet-Biedl syndrome
• p.Tyr259= Single submitter Bardet-Biedl syndrome
• p.Tyr286= Single submitter Bardet-Biedl syndrome
• p.Tyr298= Single submitter Bardet-Biedl syndrome
• p.Tyr341= Single submitter Bardet-Biedl syndrome
• p.Tyr378= Single submitter Bardet-Biedl syndrome
• p.Tyr395= Single submitter Bardet-Biedl syndrome
• p.Val123= Single submitter Bardet-Biedl syndrome
• p.Val14= Single submitter Bardet-Biedl syndrome
• p.Val190= Single submitter Bardet-Biedl syndrome
• p.Val287= Single submitter Bardet-Biedl syndrome
• p.Val313= Single submitter Bardet-Biedl syndrome
• p.Val365= Single submitter Bardet-Biedl syndrome
• p.Val418= Single submitter Bardet-Biedl syndrome
• p.Val440= Single submitter Bardet-Biedl syndrome
• p.Val505= Single submitter Bardet-Biedl syndrome

Uncertain significance 314

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

• c.1036+6A>G Multiple submitters Bardet-Biedl syndrome
• c.1248+5G>A Multiple submitters Bardet-Biedl syndrome
• c.156+4A>G Multiple submitters Bardet-Biedl syndrome
• c.220+3A>G Multiple submitters Bardet-Biedl syndrome
• c.220+3A>T Multiple submitters Bardet-Biedl syndrome
• c.332+5G>A Multiple submitters inherited retinal dystrophy
• c.405+6T>C Multiple submitters Bardet-Biedl syndrome
• c.-3A>G Multiple submitters Bardet-Biedl syndrome 4
• c.-44G>C Multiple submitters Bardet-Biedl syndrome 4
• p.Ala127Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala329Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala362Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala391Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala391Val Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Ala477Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala504Val Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Arg22Gln Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Arg22Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg45Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg45Trp Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Arg78His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn274Ser Multiple submitters BBS4-related disorder ⚠
• p.Asn408Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn465Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp168Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp183Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp251Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp442Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gln106Arg Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Gln247Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu355Gln Multiple submitters Inborn genetic diseases ⚠
• p.Glu363Asp Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Glu416= Multiple submitters Bardet-Biedl syndrome
• p.Glu416Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly338Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly386Asp Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.His325Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile146Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile146Val Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Ile172Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu113Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu148Gln Multiple submitters Inborn genetic diseases ⚠
• p.Leu210Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu343Ile Multiple submitters Inborn genetic diseases ⚠
• p.Leu376Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu411Pro Multiple submitters Inborn genetic diseases ⚠
• p.Leu468Pro Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Lys129Glu Multiple submitters Inborn genetic diseases ⚠
• p.Lys358Arg Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Lys389del Multiple submitters Bardet-Biedl syndrome 4
• p.Lys401del Multiple submitters Inborn genetic diseases
• p.Lys441Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys519Arg Multiple submitters BBS4-related disorder ⚠
• p.Lys519fs Multiple submitters Bardet-Biedl syndrome
• p.Met337Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met398Thr Multiple submitters BBS4-related disorder ⚠
• p.Pro21Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro233Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro267Ala Multiple submitters Inborn genetic diseases ⚠
• p.Pro27Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro372Ser Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Pro443Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro498fs Multiple submitters Bardet-Biedl syndrome
• p.Pro498His Multiple submitters Inborn genetic diseases ⚠
• p.Ser110Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser457Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser464Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr437Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr450Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr92Ile Multiple submitters Inborn genetic diseases ⚠
• p.Tyr145Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr147Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr147His Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Tyr191Cys Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Tyr236His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr259Asn Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Tyr308Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val143Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val254Ile Multiple submitters Bardet-Biedl syndrome 4 ⚠
• p.Val266Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val430Ala Multiple submitters Inborn genetic diseases ⚠
• p.Val72Ile Multiple submitters Bardet-Biedl syndrome ⚠
• c.1248+4T>C Single submitter Bardet-Biedl syndrome
• c.24+12G>A Single submitter Bardet-Biedl syndrome 4
• c.24+5G>T Single submitter Bardet-Biedl syndrome
• c.24+6C>T Single submitter Bardet-Biedl syndrome
• c.25-1614G>A Single submitter
• c.332+2dup Single submitter Bardet-Biedl syndrome
• c.333-3C>T Single submitter Bardet-Biedl syndrome
• c.460-15T>A Single submitter Bardet-Biedl syndrome 4
• c.642+4A>G Single submitter Bardet-Biedl syndrome
• c.76+3del Single submitter Bardet-Biedl syndrome 4
• c.865-3T>C Single submitter Bardet-Biedl syndrome
• c.-14T>A Single submitter Bardet-Biedl syndrome 4
• c.*1_*2delGA Single submitter Bardet-Biedl syndrome
• c.*1_*3delGAA Single submitter Bardet-Biedl syndrome
• c.*131_*148dup Single submitter Early onset severe obesity
• c.*149C>A Single submitter Bardet-Biedl syndrome 4
• c.*157C>G Single submitter Bardet-Biedl syndrome 4
• c.*159A>G Single submitter Bardet-Biedl syndrome 4
• c.*200C>T Single submitter Bardet-Biedl syndrome 4
• c.*36G>A Single submitter Bardet-Biedl syndrome 4
• c.*498T>C Single submitter Bardet-Biedl syndrome 4
• c.*581T>A Single submitter Bardet-Biedl syndrome 4
• c.*643A>C Single submitter Bardet-Biedl syndrome 4
• c.*65G>A Single submitter Bardet-Biedl syndrome 4
• c.*737T>C Single submitter Bardet-Biedl syndrome 4
• c.*770C>T Single submitter Bardet-Biedl syndrome 4
• c.*783A>G Single submitter Bardet-Biedl syndrome 4
• c.*883C>T Single submitter Bardet-Biedl syndrome 4
• c.*885T>C Single submitter Bardet-Biedl syndrome 4
• p.Ala119Val Single submitter Inborn genetic diseases ⚠
• p.Ala128Thr Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ala154Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala161Thr Single submitter Inborn genetic diseases ⚠
• p.Ala228Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala26fs Single submitter Bardet-Biedl syndrome 4
• p.Ala26Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala288Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Ala288Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala2Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala321Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Ala323Thr Single submitter Inborn genetic diseases ⚠
• p.Ala329Gly Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ala330Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala347Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala379Ser Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ala475= Single submitter Bardet-Biedl syndrome 4
• p.Ala477Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala485Asp Single submitter Inborn genetic diseases ⚠
• p.Ala504Glu Single submitter Inborn genetic diseases ⚠
• p.Ala504Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala50Gly Single submitter Inborn genetic diseases ⚠
• p.Ala7Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala7Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Ala7Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Arg109Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg295Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg359Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Arg517del Single submitter Bardet-Biedl syndrome
• p.Arg517Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg5Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Arg78Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg78Leu Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Asn103Lys Single submitter Inborn genetic diseases ⚠
• p.Asn309Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Asn332Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Asn82Asp Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Asp156Glu Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Asp168Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Asp303Asn Single submitter Bardet-Biedl syndrome
• p.Gln11Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gln155Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Gln155Pro Single submitter BBS4-related disorder ⚠
• p.Gln157Arg Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Gln157Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gln214Arg Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Gln319Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gln394Arg Single submitter Inborn genetic diseases ⚠
• p.Gln429Arg Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Gln429His Single submitter Bardet-Biedl syndrome ⚠
• p.Gln459Arg Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Gln470Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Gln490Ter Single submitter Bardet-Biedl syndrome
• p.Gln60Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gln84His Single submitter Bardet-Biedl syndrome ⚠
• p.Glu181Lys Single submitter Inborn genetic diseases ⚠
• p.Glu189Val Single submitter Bardet-Biedl syndrome ⚠
• p.Glu339Asp Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Glu355Gly Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Glu387Gly Single submitter Inborn genetic diseases ⚠
• p.Glu387Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Glu49Ala Single submitter Inborn genetic diseases ⚠
• p.Glu4Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Glu4Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Glu500Gln Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Glu502Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu506Val Single submitter Bardet-Biedl syndrome ⚠
• p.Glu514Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu57Lys Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Glu80Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu85Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Gly209= Single submitter
• p.Gly216Ser Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Gly250Glu Single submitter Inborn genetic diseases ⚠
• p.Gly311Ser Single submitter Inborn genetic diseases ⚠
• p.Gly463Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly469Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly484Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Gly486Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly487Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His117Arg Single submitter Bardet-Biedl syndrome 4 ⚠
• p.His117Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.His167Tyr Single submitter Bardet-Biedl syndrome 4 ⚠
• p.His42Tyr Single submitter Inborn genetic diseases ⚠
• p.His447Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Ile177Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ile188Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile276Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile276Val Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ile306Asn Single submitter Inborn genetic diseases ⚠
• p.Ile331Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Ile331Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile39Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile44Val Single submitter Inborn genetic diseases ⚠
• p.Ile76Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile83Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ile83Thr Single submitter Inborn genetic diseases ⚠
• p.Leu141Pro Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Leu162= Single submitter Bardet-Biedl syndrome 4
• p.Leu211Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu344Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu424Ser Single submitter ⚠
• p.Leu462Pro Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Leu497Ile Single submitter Inborn genetic diseases ⚠
• p.Leu499= Single submitter Bardet-Biedl syndrome 4
• p.Lys105Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Lys283Gln Single submitter Inborn genetic diseases ⚠
• p.Lys284Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Lys358Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Lys358Glu Single submitter Inborn genetic diseases ⚠
• p.Lys369= Single submitter Bardet-Biedl syndrome
• p.Lys389Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Lys400Asn Single submitter Inborn genetic diseases ⚠
• p.Lys438Arg Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Lys446Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Met173Ile Single submitter Inborn genetic diseases ⚠
• p.Met173Val Single submitter ⚠
• p.Met278Ile Single submitter Inborn genetic diseases ⚠
• p.Met317Val Single submitter Inborn genetic diseases ⚠
• p.Met337Ile Single submitter Inborn genetic diseases ⚠
• p.Met342Leu Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Met342Val Single submitter Bardet-Biedl syndrome ⚠
• p.Met398Val Single submitter Inborn genetic diseases ⚠
• p.Met472Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe222Ser Single submitter Inborn genetic diseases ⚠
• p.Phe29Val Single submitter Bardet-Biedl syndrome ⚠
• p.Phe333Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe333Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Phe491Leu Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Pro199Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Pro199Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Pro495Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Pro503Ala Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ser198Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ser291Arg Single submitter Inborn genetic diseases ⚠
• p.Ser322Leu Single submitter Inborn genetic diseases ⚠
• p.Ser328Asn Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ser403Gly Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ser409Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Ser453Arg Single submitter Inborn genetic diseases ⚠
• p.Ser464Cys Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ser464Phe Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Ser483Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ser496fs Single submitter Bardet-Biedl syndrome 4
• p.Ser97Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Thr206Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Thr207Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Thr230Ile Single submitter Inborn genetic diseases ⚠
• p.Thr234Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Thr257Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Thr316Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Thr488Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Thr8Met Single submitter Bardet-Biedl syndrome ⚠
• p.Thr8Ser Single submitter Inborn genetic diseases ⚠
• p.Trp135Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Trp436Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr145= Single submitter Bardet-Biedl syndrome
• p.Tyr259Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr341_Leu343del Single submitter
• p.Tyr378Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr395His Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr478His Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Tyr68Cys Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Val123Ile Single submitter Inborn genetic diseases ⚠
• p.Val262Glu Single submitter Inborn genetic diseases ⚠
• p.Val346Met Single submitter ⚠
• p.Val430Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Val435Ile Single submitter Inborn genetic diseases ⚠
• p.Val440Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Val54Ala Single submitter Bardet-Biedl syndrome 4 ⚠
• p.Val6Ile Single submitter Bardet-Biedl syndrome ⚠
• c.1037-4G>A No assertion criteria BBS4-related disorder
• c.25-3C>T No assertion criteria BBS4-related disorder
• p.Ala263Thr No assertion criteria BBS4-related disorder ⚠
• p.Ala323Pro No assertion criteria Bardet-Biedl syndrome 4 ⚠
• p.Arg109Thr No assertion criteria BBS4-related disorder ⚠
• p.Asn275del No assertion criteria BBS4-related disorder
• p.Asn332Ser No assertion criteria BBS4-related disorder ⚠
• p.Asn350His No assertion criteria BBS4-related disorder ⚠
• p.Cys264Tyr No assertion criteria BBS4-related disorder ⚠
• p.Glu399del No assertion criteria BBS4-related disorder
• p.Gly431Glu No assertion criteria BBS4-related disorder ⚠
• p.Gly484Asp No assertion criteria ⚠
• p.Ile146Met No assertion criteria BBS4-related disorder ⚠
• p.Leu405Phe No assertion criteria BBS4-related disorder ⚠
• p.Leu65Trp No assertion criteria BBS4-related disorder ⚠
• p.Leu75Phe No assertion criteria BBS4-related disorder ⚠
• p.Lys336Thr No assertion criteria BBS4-related disorder ⚠
• p.Lys401_Val402delinsSerAla No assertion criteria BBS4-related disorder