BBS2 — 1235 ClinVar variants

Pathogenic 78

• c.471+1G>A Multiple submitters Bardet-Biedl syndrome
• c.717+1G>A Multiple submitters retinitis pigmentosa 74
• c.717+2T>G Multiple submitters Bardet-Biedl syndrome
• c.941-1G>T Multiple submitters Bardet-Biedl syndrome
• c.941-2A>C Multiple submitters Bardet-Biedl syndrome 2
• p.Arg189Ter Multiple submitters Bardet-Biedl syndrome
• p.Arg216Ter Multiple submitters retinitis pigmentosa 74
• p.Arg234Ter Multiple submitters retinitis pigmentosa 74
• p.Arg272Ter Multiple submitters inherited retinal dystrophy
• p.Arg339Ter Multiple submitters retinitis pigmentosa 74
• p.Arg413Ter Multiple submitters inherited retinal dystrophy
• p.Arg594Ter Multiple submitters Bardet-Biedl syndrome 2
• p.Asp104Ala Multiple submitters retinitis pigmentosa 74
• p.Gln569Ter Multiple submitters retinitis pigmentosa 74
• p.Gly88fs Multiple submitters Bardet-Biedl syndrome 2
• p.Ile188fs Multiple submitters inherited retinal dystrophy
• p.Leu168fs Multiple submitters Bardet-Biedl syndrome
• p.Leu221fs Multiple submitters Inborn genetic diseases
• p.Ser605Ter Multiple submitters retinitis pigmentosa 74
• p.Tyr603fs Multiple submitters Bardet-Biedl syndrome
• p.Val94fs Multiple submitters Bardet-Biedl syndrome
• c.1225+1del Single submitter Bardet-Biedl syndrome
• c.1910+1G>T Single submitter Bardet-Biedl syndrome 2
• c.2059+1G>T Single submitter Bardet-Biedl syndrome
• c.356_472-117del Single submitter Bardet-Biedl syndrome
• c.471+1G>C Single submitter Bardet-Biedl syndrome
• c.472-2A>G Single submitter Bardet-Biedl syndrome
• c.613-1G>T Single submitter Bardet-Biedl syndrome
• c.716_717+2del Single submitter Bardet-Biedl syndrome 2
• c.718-2A>G Single submitter Bardet-Biedl syndrome
• c.941-1G>C Single submitter Bardet-Biedl syndrome
• p.Ala271fs Single submitter Bardet-Biedl syndrome
• p.Ala359fs Single submitter Bardet-Biedl syndrome 2
• p.Arg298fs Single submitter Bardet-Biedl syndrome
• p.Arg325fs Single submitter Bardet-Biedl syndrome
• p.Arg476fs Single submitter Bardet-Biedl syndrome
• p.Asn121fs Single submitter Bardet-Biedl syndrome
• p.Asn354Ter Single submitter retinitis pigmentosa 74
• p.Asn393fs Single submitter Bardet-Biedl syndrome
• p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer Single submitter Bardet-Biedl syndrome
• p.Asp601Ter Single submitter Bardet-Biedl syndrome
• p.Gln477Ter Single submitter Bardet-Biedl syndrome
• p.Gln516Ter Single submitter Bardet-Biedl syndrome 2
• p.Gln59fs Single submitter Bardet-Biedl syndrome
• p.Glu178fs Single submitter Bardet-Biedl syndrome
• p.Glu259Ter Single submitter Bardet-Biedl syndrome
• p.Gly38fs Single submitter Bardet-Biedl syndrome
• p.Gly425_Glu426insTer Single submitter Bardet-Biedl syndrome
• p.His384fs Single submitter Bardet-Biedl syndrome
• p.His399fs Single submitter Bardet-Biedl syndrome 2
• p.His525fs Single submitter Bardet-Biedl syndrome
• p.His604fs Single submitter Bardet-Biedl syndrome
• p.Ile306fs Single submitter Bardet-Biedl syndrome
• p.Ile314fs Single submitter Bardet-Biedl syndrome 2
• p.Ile702fs Single submitter Bardet-Biedl syndrome
• p.Ile71_Val75del Single submitter Bardet-Biedl syndrome
• p.Leu31fs Single submitter Bardet-Biedl syndrome
• p.Leu489fs Single submitter Bardet-Biedl syndrome
• p.Leu519fs Single submitter Bardet-Biedl syndrome
• p.Lys449fs Single submitter Bardet-Biedl syndrome
• p.Lys641fs Single submitter Bardet-Biedl syndrome
• p.Met1Arg Single submitter
• p.Phe155_Trp156insTer Single submitter Bardet-Biedl syndrome
• p.Ser407fs Single submitter Bardet-Biedl syndrome
• p.Ser465fs Single submitter Bardet-Biedl syndrome
• p.Ser611fs Single submitter Bardet-Biedl syndrome
• p.Thr37fs Single submitter Bardet-Biedl syndrome
• p.Trp156fs Single submitter Bardet-Biedl syndrome
• p.Trp264Ter Single submitter inherited retinal dystrophy
• p.Tyr103fs Single submitter Bardet-Biedl syndrome
• p.Tyr229fs Single submitter Bardet-Biedl syndrome
• p.Tyr229Ter Single submitter Bardet-Biedl syndrome 2
• p.Tyr589Ter Single submitter Bardet-Biedl syndrome
• p.Tyr658Ter Single submitter Bardet-Biedl syndrome
• p.Val197fs Single submitter Bardet-Biedl syndrome
• p.Val389fs Single submitter Bardet-Biedl syndrome
• p.Val687fs Single submitter Bardet-Biedl syndrome
• p.Gly139Val No assertion criteria Bardet-Biedl syndrome 2

Pathogenic/Likely pathogenic 55

• c.1397+1G>A Multiple submitters Bardet-Biedl syndrome
• c.472del Multiple submitters retinitis pigmentosa 74
• c.534+1G>T Multiple submitters inherited retinal dystrophy
• c.535-1G>C Multiple submitters
• c.535-2A>G Multiple submitters Bardet-Biedl syndrome
• c.612+1G>A Multiple submitters Bardet-Biedl syndrome 2
• c.613-1G>C Multiple submitters Bardet-Biedl syndrome
• c.717+1G>T Multiple submitters Bardet-Biedl syndrome
• c.718-2A>C Multiple submitters Bardet-Biedl syndrome
• c.940+1del Multiple submitters retinitis pigmentosa 74
• p.Ala615fs Multiple submitters Bardet-Biedl syndrome 2
• p.Arg275Ter Multiple submitters retinitis pigmentosa 74
• p.Arg315Gln Multiple submitters retinitis pigmentosa 74 ⚠
• p.Arg315Trp Multiple submitters retinitis pigmentosa 74 ⚠
• p.Arg339fs Multiple submitters Bardet-Biedl syndrome 2
• p.Arg403fs Multiple submitters Bardet-Biedl syndrome 2
• p.Arg480Ter Multiple submitters retinitis pigmentosa 74
• p.Arg622Ter Multiple submitters Bardet-Biedl syndrome 2
• p.Arg632Pro Multiple submitters Autosomal recessive BBS2-related disorders
• p.Arg703Ter Multiple submitters Inborn genetic diseases
• p.Asn258fs Multiple submitters Bardet-Biedl syndrome
• p.Asn354Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn663Ter Multiple submitters retinitis pigmentosa 74
• p.Asp649fs Multiple submitters Bardet-Biedl syndrome 2
• p.Cys210fs Multiple submitters Bardet-Biedl syndrome
• p.Gln59Ter Multiple submitters retinitis pigmentosa 74
• p.Gln608Ter Multiple submitters retinitis pigmentosa 40
• p.Glu86fs Multiple submitters retinitis pigmentosa 74
• p.Gly146fs Multiple submitters Bardet-Biedl syndrome
• p.Gly657Ter Multiple submitters Bardet-Biedl syndrome
• p.Gly81Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile496fs Multiple submitters Bardet-Biedl syndrome 2
• p.Leu166Ter Multiple submitters Bardet-Biedl syndrome
• p.Leu367fs Multiple submitters Bardet-Biedl syndrome 2
• p.Leu437fs Multiple submitters Bardet-Biedl syndrome 2
• p.Leu550fs Multiple submitters retinitis pigmentosa 74
• p.Lys458fs Multiple submitters Bardet-Biedl syndrome 2
• p.Met637fs Multiple submitters inherited retinal dystrophy
• p.Phe147fs Multiple submitters BBS2-related disorder
• p.Phe575fs Multiple submitters focal segmental glomerulosclerosis
• p.Phe590fs Multiple submitters BBS2-related disorder
• p.Pro134Arg Multiple submitters BBS2-related ciliopathy ⚠
• p.Ser109Ter Multiple submitters Bardet-Biedl syndrome 2
• p.Ser388fs Multiple submitters Bardet-Biedl syndrome
• p.Ser388Ter Multiple submitters Bardet-Biedl syndrome
• p.Thr157= Multiple submitters Bardet-Biedl syndrome
• p.Thr27Pro Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Thr555fs Multiple submitters Bardet-Biedl syndrome
• p.Thr666fs Multiple submitters Bardet-Biedl syndrome 2
• p.Thr79Pro Multiple submitters Bardet-Biedl syndrome
• p.Tyr24Ter Multiple submitters retinitis pigmentosa 74
• p.Tyr317Cys Multiple submitters Bardet-Biedl syndrome
• p.Tyr644Ter Multiple submitters Bardet-Biedl syndrome
• p.Val588fs Multiple submitters Bardet-Biedl syndrome
• p.Val75Gly Multiple submitters BBS2-related ciliopathy

Likely pathogenic 120

• c.118-1G>T Multiple submitters Bardet-Biedl syndrome
• c.118-2A>C Multiple submitters Bardet-Biedl syndrome 2
• c.118-2A>G Multiple submitters retinitis pigmentosa 74
• c.1225+2T>C Multiple submitters Bardet-Biedl syndrome
• c.1225+2T>G Multiple submitters Bardet-Biedl syndrome 2
• c.1397+2T>C Multiple submitters Bardet-Biedl syndrome
• c.1398-2A>G Multiple submitters Bardet-Biedl syndrome
• c.1527+1G>A Multiple submitters Bardet-Biedl syndrome
• c.2060-1G>T Multiple submitters inherited retinal dystrophy
• c.345+1G>A Multiple submitters Bardet-Biedl syndrome 2
• c.535-1G>A Multiple submitters Bardet-Biedl syndrome 2
• c.804+1_804+14del Multiple submitters Bardet-Biedl syndrome
• c.940+1G>A Multiple submitters Bardet-Biedl syndrome 2
• c.941-2A>G Multiple submitters Bardet-Biedl syndrome
• p.Ala136fs Multiple submitters Bardet-Biedl syndrome 2
• p.Asp174Glu Multiple submitters Bardet-Biedl syndrome 2
• p.Asp371fs Multiple submitters Bardet-Biedl syndrome
• p.Asp90Gly Multiple submitters retinitis pigmentosa 74
• p.Gln73Ter Multiple submitters Bardet-Biedl syndrome 2
• p.Gln97Ter Multiple submitters Bardet-Biedl syndrome 2
• p.Glu356Ter Multiple submitters Bardet-Biedl syndrome 2
• p.Leu62fs Multiple submitters Bardet-Biedl syndrome 2
• p.Phe423fs Multiple submitters Bardet-Biedl syndrome 2
• p.Ser286fs Multiple submitters Bardet-Biedl syndrome 2
• c.1080+2T>C Single submitter Bardet-Biedl syndrome
• c.1081-1G>A Single submitter Bardet-Biedl syndrome
• c.117+1G>A Single submitter Bardet-Biedl syndrome
• c.118-1G>C Single submitter Bardet-Biedl syndrome
• c.1398-9_1410dup Single submitter Bardet-Biedl syndrome 2
• c.1527+2T>G Single submitter Bardet-Biedl syndrome
• c.1528-1G>C Single submitter Bardet-Biedl syndrome
• c.1798-1G>T Single submitter Bardet-Biedl syndrome 2
• c.1798-2A>G Single submitter Bardet-Biedl syndrome
• c.1910+1G>A Single submitter Bardet-Biedl syndrome 2
• c.1911-1G>A Single submitter Bardet-Biedl syndrome
• c.1911-1G>C Single submitter Bardet-Biedl syndrome
• c.1911-2A>G Single submitter Bardet-Biedl syndrome
• c.1911-986_1914del Single submitter Bardet-Biedl syndrome
• c.2059+1del Single submitter Bardet-Biedl syndrome 2
• c.346-1G>C Single submitter Bardet-Biedl syndrome 2
• c.346-2A>C Single submitter Bardet-Biedl syndrome 2
• c.472-2A>C Single submitter Bardet-Biedl syndrome 2
• c.534+2T>C Single submitter Bardet-Biedl syndrome 2
• c.600_612+2del Single submitter Bardet-Biedl syndrome 2
• c.612+1G>T Single submitter Bardet-Biedl syndrome
• c.804+1G>T Single submitter Bardet-Biedl syndrome
• c.941-1G>A Single submitter Bardet-Biedl syndrome 2
• p.Ala20_Ile21insTer Single submitter Bardet-Biedl syndrome 2
• p.Ala576fs Single submitter Bardet-Biedl syndrome 2
• p.Arg17Ter Single submitter Bardet-Biedl syndrome 2
• p.Arg216Pro Single submitter Bardet-Biedl syndrome 2
• p.Arg272_Ser273insTer Single submitter Bardet-Biedl syndrome 2
• p.Asn141del Single submitter Bardet-Biedl syndrome 2
• p.Asn164fs Single submitter Bardet-Biedl syndrome 2
• p.Asp104fs Single submitter Bardet-Biedl syndrome 2
• p.Asp187fs Single submitter Bardet-Biedl syndrome 2
• p.Asp450fs Single submitter Bardet-Biedl syndrome 2
• p.Asp566fs Single submitter Bardet-Biedl syndrome 2
• p.Cys307Arg Single submitter Bardet-Biedl syndrome 2
• p.Gln343Ter Single submitter Bardet-Biedl syndrome 2
• p.Gln36fs Single submitter focal segmental glomerulosclerosis
• p.Gln468Ter Single submitter Bardet-Biedl syndrome 2
• p.Gln532Ter Single submitter Bardet-Biedl syndrome 2
• p.Gln680Ter Single submitter Bardet-Biedl syndrome 2
• p.Gln693fs Single submitter Bardet-Biedl syndrome 2
• p.Glu115fs Single submitter Bardet-Biedl syndrome 2
• p.Glu115Ter Single submitter Bardet-Biedl syndrome 2
• p.Glu195Ter Single submitter Bardet-Biedl syndrome 2
• p.Glu420fs Single submitter Bardet-Biedl syndrome 2
• p.Glu426Ter Single submitter inherited retinal dystrophy
• p.Glu583Ter Single submitter Bardet-Biedl syndrome 2
• p.Gly139Asp Single submitter Bardet-Biedl syndrome 2
• p.Gly256Ter Single submitter Bardet-Biedl syndrome 2
• p.Gly425fs Single submitter Bardet-Biedl syndrome 2
• p.Gly515fs Single submitter Bardet-Biedl syndrome 2
• p.Gly552fs Single submitter Bardet-Biedl syndrome 2
• p.Gly95fs Single submitter Bardet-Biedl syndrome 2
• p.His431fs Single submitter Bardet-Biedl syndrome 2
• p.Ile526fs Single submitter Bardet-Biedl syndrome 2
• p.Ile567fs Single submitter Bardet-Biedl syndrome 2
• p.Leu101Ter Single submitter Bardet-Biedl syndrome 2
• p.Leu10fs Single submitter Bardet-Biedl syndrome 2
• p.Leu125Arg Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Leu363Ter Single submitter Bardet-Biedl syndrome 2
• p.Leu416fs Single submitter Bardet-Biedl syndrome 2
• p.Leu486fs Single submitter Bardet-Biedl syndrome 2
• p.Leu593Ter Single submitter Bardet-Biedl syndrome 2
• p.Leu68fs Single submitter Bardet-Biedl syndrome 2
• p.Leu8Pro Single submitter Bardet-Biedl syndrome
• p.Leu92_Leu93insTer Single submitter Bardet-Biedl syndrome 2
• p.Leu93Ter Single submitter Bardet-Biedl syndrome 2
• p.Lys231Ter Single submitter Bardet-Biedl syndrome 2
• p.Lys241Ter Single submitter Bardet-Biedl syndrome 2
• p.Lys268Ter Single submitter Bardet-Biedl syndrome 2
• p.Lys599= Single submitter Bardet-Biedl syndrome
• p.Lys599fs Single submitter Bardet-Biedl syndrome 2
• p.Lys599Ter Single submitter Bardet-Biedl syndrome 2
• p.Phe217Cys Single submitter Bardet-Biedl syndrome 2
• p.Phe501fs Single submitter Bardet-Biedl syndrome 2
• p.Pro452fs Single submitter Bardet-Biedl syndrome 2
• p.Pro85fs Single submitter Bardet-Biedl syndrome 2
• p.Ser439fs Single submitter Bardet-Biedl syndrome 2
• p.Ser488fs Single submitter Bardet-Biedl syndrome 2
• p.Ser53fs Single submitter Bardet-Biedl syndrome 2
• p.Thr207fs Single submitter Bardet-Biedl syndrome 2
• p.Thr262fs Single submitter Bardet-Biedl syndrome 2
• p.Thr79fs Single submitter
• p.Tyr317Ser Single submitter
• p.Tyr498fs Single submitter Bardet-Biedl syndrome 2
• p.Tyr648Ter Single submitter Bardet-Biedl syndrome 2
• p.Val600_Asp601insTer Single submitter Bardet-Biedl syndrome 2
• c.1081-1G>T No assertion criteria Bardet-Biedl syndrome 2
• c.1797+1G>A No assertion criteria Bardet-Biedl syndrome 2
• p.Ala122fs No assertion criteria BBS2-related disorder
• p.Asn108fs No assertion criteria Bardet-Biedl syndrome 2
• p.Asp170Gly No assertion criteria Bardet-Biedl syndrome 2
• p.Cys307fs No assertion criteria Bardet-Biedl syndrome 2
• p.Val19fs No assertion criteria Bardet-Biedl syndrome 2
• p.Val269Gly No assertion criteria Bardet-Biedl syndrome
• p.Val510Phe No assertion criteria Bardet-Biedl syndrome 1 ⚠

Conflicting classifications of pathogenicity 46

• c.1225+2dup Single submitter Bardet-Biedl syndrome 2
• c.1226-11C>T Single submitter Bardet-Biedl syndrome 2
• c.1397+7C>A Single submitter Bardet-Biedl syndrome
• c.1527+12G>A Single submitter Bardet-Biedl syndrome
• c.1797+12C>T Single submitter Bardet-Biedl syndrome
• c.1910+9T>G Single submitter Bardet-Biedl syndrome
• c.345+5G>A Single submitter Bardet-Biedl syndrome
• c.534+7G>C Single submitter Bardet-Biedl syndrome
• c.805-20A>G Single submitter Bardet-Biedl syndrome
• p.Ala136= Single submitter Bardet-Biedl syndrome
• p.Ala33Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg315= Single submitter inherited retinal dystrophy
• p.Arg403Cys Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Arg413Gln Single submitter Inborn genetic diseases ⚠
• p.Arg632Cys Single submitter retinitis pigmentosa 74 ⚠
• p.Asn368= Single submitter Bardet-Biedl syndrome
• p.Asn651= Single submitter Bardet-Biedl syndrome
• p.Asp170Asn Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Asp490= Single submitter Bardet-Biedl syndrome 2
• p.Gln508Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Gly175= Single submitter Bardet-Biedl syndrome
• p.Gly214= Single submitter Bardet-Biedl syndrome
• p.Gly218Asp Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Gly26= Single submitter Bardet-Biedl syndrome
• p.His248= Single submitter inherited retinal dystrophy
• p.His428= Single submitter Bardet-Biedl syndrome 2
• p.Ile123Val Single submitter retinitis pigmentosa 74 ⚠
• p.Ile138Ser Single submitter retinitis pigmentosa ⚠
• p.Ile42Met Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ile556Val Single submitter Inborn genetic diseases ⚠
• p.Leu83= Single submitter Bardet-Biedl syndrome
• p.Lys39= Single submitter Bardet-Biedl syndrome
• p.Lys39Arg Single submitter retinitis pigmentosa 74 ⚠
• p.Phe460= Single submitter Bardet-Biedl syndrome
• p.Ser109= Single submitter Bardet-Biedl syndrome
• p.Ser332Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Ser474Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Thr201= Single submitter Bardet-Biedl syndrome
• p.Thr321= Single submitter retinitis pigmentosa 74
• p.Thr321Met Single submitter Bardet-Biedl syndrome ⚠
• p.Thr558Ile Single submitter inherited retinal dystrophy ⚠
• p.Thr696= Single submitter Bardet-Biedl syndrome
• p.Tyr229His Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Tyr89Cys Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Val279= Single submitter Bardet-Biedl syndrome
• p.Val40Phe Single submitter retinitis pigmentosa 74 ⚠

Benign 33

• c.1080+149G>A Multiple submitters
• c.1081-101T>C Multiple submitters
• c.1081-204T>G Multiple submitters
• c.1226-122T>C Multiple submitters
• c.1798-194G>C Multiple submitters
• c.1910+129C>T Multiple submitters
• c.2059+79A>G Multiple submitters
• c.612+12C>A Multiple submitters Bardet-Biedl syndrome 2
• c.613-54C>G Multiple submitters Bardet-Biedl syndrome 2
• c.940+91C>T Multiple submitters
• c.-137C>G Multiple submitters Bardet-Biedl syndrome 2
• c.-191G>T Multiple submitters Bardet-Biedl syndrome 2
• p.Gln693= Multiple submitters inherited retinal dystrophy
• p.Ile289Val Multiple submitters inherited retinal dystrophy ⚠
• p.Ser70Asn Multiple submitters retinitis pigmentosa 74
• c.118-185G>A Single submitter
• c.1225+71del Single submitter
• c.1397+211dup Single submitter
• c.1527+17del Single submitter Bardet-Biedl syndrome
• c.1528-126G>C Single submitter
• c.1528-139del Single submitter
• c.1528-150dup Single submitter
• c.2060-318T>C Single submitter
• c.346-12del Single submitter Bardet-Biedl syndrome
• c.472-13del Single submitter Bardet-Biedl syndrome
• c.534+11del Single submitter Bardet-Biedl syndrome
• c.534+11dup Single submitter Bardet-Biedl syndrome
• c.613-17dup Single submitter Bardet-Biedl syndrome
• c.613-5dup Single submitter Bardet-Biedl syndrome
• c.941-13dup Single submitter Bardet-Biedl syndrome
• c.-225C>T Single submitter Bardet-Biedl syndrome 2
• c.*316A>G Single submitter Bardet-Biedl syndrome 2
• p.Ser70= Single submitter Bardet-Biedl syndrome

Benign/Likely benign 11

• c.1080+14C>T Multiple submitters Bardet-Biedl syndrome
• c.1081-18G>T Multiple submitters Bardet-Biedl syndrome 2
• c.1659+3A>G Multiple submitters Bardet-Biedl syndrome
• c.718-34G>A Multiple submitters retinitis pigmentosa 74
• c.-40T>C Multiple submitters retinitis pigmentosa 74
• c.-42T>G Multiple submitters retinitis pigmentosa 74
• c.*13C>T Multiple submitters Bardet-Biedl syndrome 2
• p.Ala370= Multiple submitters Bardet-Biedl syndrome 2
• p.Ala504Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro378= Multiple submitters Bardet-Biedl syndrome
• p.Asp118= No assertion criteria

Likely benign 467

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

• c.117+10C>T Multiple submitters Bardet-Biedl syndrome
• c.117+17G>T Multiple submitters retinitis pigmentosa 74
• c.117+7G>A Multiple submitters Bardet-Biedl syndrome 2
• c.1528-15G>T Multiple submitters Bardet-Biedl syndrome
• c.1797+13G>A Multiple submitters retinitis pigmentosa 74
• c.2059+12_2059+13del Multiple submitters Bardet-Biedl syndrome 2
• c.471+17A>G Multiple submitters Bardet-Biedl syndrome 2
• c.472-10T>C Multiple submitters Bardet-Biedl syndrome
• c.534+20T>C Multiple submitters retinitis pigmentosa 74
• c.535-7C>T Multiple submitters Bardet-Biedl syndrome
• c.612+14C>G Multiple submitters Bardet-Biedl syndrome 2
• c.612+17C>G Multiple submitters Bardet-Biedl syndrome
• c.612+17C>T Multiple submitters retinitis pigmentosa 74
• c.612+18G>A Multiple submitters Bardet-Biedl syndrome 2
• c.612+42T>C Multiple submitters
• c.941-11C>T Multiple submitters retinitis pigmentosa 74
• c.941-6G>A Multiple submitters Bardet-Biedl syndrome 2
• c.941-8C>G Multiple submitters Bardet-Biedl syndrome 2
• p.Ala290= Multiple submitters Bardet-Biedl syndrome
• p.Ala419= Multiple submitters Bardet-Biedl syndrome
• p.Ala615= Multiple submitters Bardet-Biedl syndrome
• p.Arg114= Multiple submitters retinitis pigmentosa 74
• p.Arg403= Multiple submitters Bardet-Biedl syndrome
• p.Asn72= Multiple submitters retinitis pigmentosa 74
• p.Asp270= Multiple submitters Bardet-Biedl syndrome
• p.Gly541= Multiple submitters Bardet-Biedl syndrome
• p.Ile261= Multiple submitters inherited retinal dystrophy
• p.Leu128= Multiple submitters Bardet-Biedl syndrome
• p.Leu31= Multiple submitters Bardet-Biedl syndrome
• p.Leu337= Multiple submitters Bardet-Biedl syndrome
• p.Ser240= Multiple submitters Bardet-Biedl syndrome
• p.Ser287= Multiple submitters Bardet-Biedl syndrome
• p.Thr386= Multiple submitters Bardet-Biedl syndrome
• p.Val471= Multiple submitters Bardet-Biedl syndrome 2
• p.Val510= Multiple submitters retinitis pigmentosa 74
• c.1080+10G>A Single submitter Bardet-Biedl syndrome
• c.1080+10G>C Single submitter Bardet-Biedl syndrome
• c.1080+11G>T Single submitter Bardet-Biedl syndrome
• c.1080+18dup Single submitter Bardet-Biedl syndrome
• c.1080+18T>C Single submitter Bardet-Biedl syndrome
• c.1080+7G>A Single submitter Bardet-Biedl syndrome
• c.1080+8T>G Single submitter Bardet-Biedl syndrome
• c.1080+9A>G Single submitter Bardet-Biedl syndrome
• c.1081-14G>C Single submitter Bardet-Biedl syndrome
• c.1081-16G>A Single submitter Bardet-Biedl syndrome
• c.117+10C>G Single submitter Bardet-Biedl syndrome
• c.117+11C>A Single submitter Bardet-Biedl syndrome
• c.117+12C>T Single submitter Bardet-Biedl syndrome
• c.117+14C>T Single submitter Bardet-Biedl syndrome
• c.117+15C>G Single submitter Bardet-Biedl syndrome
• c.117+16C>G Single submitter Bardet-Biedl syndrome
• c.117+16C>T Single submitter Bardet-Biedl syndrome
• c.117+19A>C Single submitter Bardet-Biedl syndrome
• c.117+19A>T Single submitter Bardet-Biedl syndrome
• c.117+27C>T Single submitter
• c.117+8C>G Single submitter Bardet-Biedl syndrome
• c.117+8C>T Single submitter Bardet-Biedl syndrome
• c.117+9T>C Single submitter Bardet-Biedl syndrome
• c.118-13A>G Single submitter Bardet-Biedl syndrome
• c.118-15T>C Single submitter Bardet-Biedl syndrome
• c.118-16_118-13del Single submitter Bardet-Biedl syndrome
• c.118-16G>T Single submitter Bardet-Biedl syndrome
• c.118-17A>C Single submitter Bardet-Biedl syndrome
• c.118-8T>G Single submitter Bardet-Biedl syndrome
• c.1225+10T>A Single submitter Bardet-Biedl syndrome
• c.1225+10T>C Single submitter Bardet-Biedl syndrome
• c.1225+11A>G Single submitter Bardet-Biedl syndrome
• c.1225+12C>T Single submitter Bardet-Biedl syndrome
• c.1225+14C>T Single submitter Bardet-Biedl syndrome
• c.1225+16C>T Single submitter Bardet-Biedl syndrome
• c.1225+17A>G Single submitter Bardet-Biedl syndrome
• c.1225+18G>A Single submitter Bardet-Biedl syndrome
• c.1225+19C>T Single submitter Bardet-Biedl syndrome
• c.1226-11C>G Single submitter Bardet-Biedl syndrome
• c.1226-18T>A Single submitter Bardet-Biedl syndrome
• c.1226-4G>A Single submitter Bardet-Biedl syndrome
• c.1226-5T>C Single submitter Bardet-Biedl syndrome
• c.1226-7C>T Single submitter Bardet-Biedl syndrome
• c.1397+10T>G Single submitter Bardet-Biedl syndrome
• c.1397+15G>A Single submitter Bardet-Biedl syndrome
• c.1397+7C>T Single submitter Bardet-Biedl syndrome
• c.1397+9_1397+10dup Single submitter Bardet-Biedl syndrome
• c.1397+9T>C Single submitter Bardet-Biedl syndrome
• c.1398-10T>C Single submitter Bardet-Biedl syndrome
• c.1398-14T>C Single submitter Bardet-Biedl syndrome
• c.1398-4A>G Single submitter Bardet-Biedl syndrome
• c.1398-5C>T Single submitter Bardet-Biedl syndrome
• c.1398-7G>T Single submitter Bardet-Biedl syndrome
• c.1527+11C>T Single submitter Bardet-Biedl syndrome
• c.1527+13C>T Single submitter Bardet-Biedl syndrome
• c.1527+18C>T Single submitter Bardet-Biedl syndrome
• c.1527+19T>C Single submitter Bardet-Biedl syndrome
• c.1527+19T>G Single submitter Bardet-Biedl syndrome
• c.1527+20C>G Single submitter Bardet-Biedl syndrome
• c.1528-16T>C Single submitter Bardet-Biedl syndrome
• c.1528-19C>A Single submitter Bardet-Biedl syndrome
• c.1528-4C>G Single submitter Bardet-Biedl syndrome
• c.1528-4C>T Single submitter Bardet-Biedl syndrome
• c.1528-7T>C Single submitter Bardet-Biedl syndrome
• c.1528-9A>G Single submitter Bardet-Biedl syndrome
• c.1659+10A>G Single submitter Bardet-Biedl syndrome
• c.1659+11A>C Single submitter Bardet-Biedl syndrome
• c.1659+17C>T Single submitter Bardet-Biedl syndrome
• c.1659+18G>A Single submitter Bardet-Biedl syndrome
• c.1659+7T>C Single submitter Bardet-Biedl syndrome
• c.1660-10C>T Single submitter Bardet-Biedl syndrome
• c.1660-12T>A Single submitter Bardet-Biedl syndrome
• c.1660-13_1660-11del Single submitter Bardet-Biedl syndrome
• c.1660-16T>C Single submitter Bardet-Biedl syndrome
• c.1660-17_1660-16del Single submitter Bardet-Biedl syndrome
• c.1660-17A>G Single submitter Bardet-Biedl syndrome
• c.1660-17A>T Single submitter Bardet-Biedl syndrome
• c.1660-18T>C Single submitter Bardet-Biedl syndrome
• c.1660-9T>G Single submitter Bardet-Biedl syndrome
• c.1797+14G>T Single submitter Bardet-Biedl syndrome
• c.1797+17G>A Single submitter Bardet-Biedl syndrome
• c.1797+20G>T Single submitter Bardet-Biedl syndrome
• c.1797+7del Single submitter Bardet-Biedl syndrome
• c.1798-10T>C Single submitter Bardet-Biedl syndrome
• c.1798-11A>G Single submitter Bardet-Biedl syndrome
• c.1798-18A>G Single submitter Bardet-Biedl syndrome
• c.1798-8G>T Single submitter Bardet-Biedl syndrome
• c.1911-10A>T Single submitter Bardet-Biedl syndrome
• c.1911-10dup Single submitter Bardet-Biedl syndrome
• c.1911-14A>C Single submitter Bardet-Biedl syndrome
• c.1911-6G>A Single submitter Bardet-Biedl syndrome
• c.1911-8T>G Single submitter Bardet-Biedl syndrome
• c.2059+15A>G Single submitter Bardet-Biedl syndrome
• c.2059+15A>T Single submitter Bardet-Biedl syndrome
• c.2059+19_2059+20insT Single submitter Bardet-Biedl syndrome
• c.2059+7C>G Single submitter Bardet-Biedl syndrome
• c.2059+7C>T Single submitter Bardet-Biedl syndrome
• c.2059+8T>G Single submitter Bardet-Biedl syndrome
• c.2060-10del Single submitter Bardet-Biedl syndrome
• c.2060-10T>C Single submitter Bardet-Biedl syndrome
• c.2060-18A>T Single submitter Bardet-Biedl syndrome
• c.2060-4G>A Single submitter Bardet-Biedl syndrome
• c.2060-5T>C Single submitter Bardet-Biedl syndrome
• c.2060-6A>G Single submitter Bardet-Biedl syndrome
• c.2060-7T>C Single submitter Bardet-Biedl syndrome
• c.2060-8_2060-5del Single submitter Bardet-Biedl syndrome
• c.2060-8T>C Single submitter Bardet-Biedl syndrome
• c.2060-9_2060-7del Single submitter Bardet-Biedl syndrome
• c.2060-9C>T Single submitter Bardet-Biedl syndrome
• c.345+10A>G Single submitter Bardet-Biedl syndrome
• c.345+11C>T Single submitter Bardet-Biedl syndrome
• c.345+12C>T Single submitter Bardet-Biedl syndrome
• c.345+15del Single submitter Bardet-Biedl syndrome
• c.345+16A>G Single submitter Bardet-Biedl syndrome
• c.345+17T>C Single submitter Bardet-Biedl syndrome
• c.345+8T>C Single submitter Bardet-Biedl syndrome
• c.346-11A>G Single submitter Bardet-Biedl syndrome
• c.346-12T>A Single submitter Bardet-Biedl syndrome
• c.346-20T>C Single submitter Bardet-Biedl syndrome
• c.346-5C>T Single submitter Bardet-Biedl syndrome
• c.471+10A>C Single submitter Bardet-Biedl syndrome
• c.471+12A>G Single submitter Bardet-Biedl syndrome
• c.471+14A>C Single submitter Bardet-Biedl syndrome
• c.471+7A>G Single submitter Bardet-Biedl syndrome
• c.472-16G>A Single submitter Bardet-Biedl syndrome
• c.472-18T>C Single submitter Bardet-Biedl syndrome
• c.472-6T>C Single submitter Bardet-Biedl syndrome
• c.534+10G>A Single submitter Bardet-Biedl syndrome
• c.534+11G>T Single submitter Bardet-Biedl syndrome
• c.534+13G>A Single submitter Bardet-Biedl syndrome
• c.534+17A>G Single submitter Bardet-Biedl syndrome
• c.534+17A>T Single submitter Bardet-Biedl syndrome
• c.534+18T>C Single submitter Bardet-Biedl syndrome
• c.534+19A>C Single submitter Bardet-Biedl syndrome
• c.534+19A>G Single submitter Bardet-Biedl syndrome
• c.534+7G>T Single submitter Bardet-Biedl syndrome
• c.534+9G>A Single submitter Bardet-Biedl syndrome
• c.534+9G>T Single submitter Bardet-Biedl syndrome
• c.535-16_535-14del Single submitter Bardet-Biedl syndrome
• c.535-18A>G Single submitter Bardet-Biedl syndrome
• c.535-19T>C Single submitter Bardet-Biedl syndrome
• c.535-20G>C Single submitter Bardet-Biedl syndrome
• c.535-6C>T Single submitter Bardet-Biedl syndrome
• c.535-6del Single submitter Bardet-Biedl syndrome
• c.535-8C>T Single submitter Bardet-Biedl syndrome
• c.535-9C>T Single submitter Bardet-Biedl syndrome
• c.612+10T>C Single submitter Bardet-Biedl syndrome
• c.612+12C>T Single submitter Bardet-Biedl syndrome
• c.612+14C>T Single submitter Bardet-Biedl syndrome
• c.612+16T>A Single submitter Bardet-Biedl syndrome
• c.612+18G>T Single submitter Bardet-Biedl syndrome
• c.612+20A>G Single submitter Bardet-Biedl syndrome
• c.612+7A>G Single submitter Bardet-Biedl syndrome
• c.613-11T>C Single submitter Bardet-Biedl syndrome
• c.613-12A>G Single submitter Bardet-Biedl syndrome
• c.613-13G>A Single submitter Bardet-Biedl syndrome
• c.717+16C>A Single submitter Bardet-Biedl syndrome
• c.717+16C>T Single submitter Bardet-Biedl syndrome
• c.717+17C>T Single submitter Bardet-Biedl syndrome
• c.717+7A>G Single submitter Bardet-Biedl syndrome
• c.718-10T>C Single submitter Bardet-Biedl syndrome
• c.718-19T>G Single submitter Bardet-Biedl syndrome
• c.718-4T>G Single submitter Bardet-Biedl syndrome
• c.718-9C>A Single submitter Bardet-Biedl syndrome
• c.804+15C>G Single submitter Bardet-Biedl syndrome
• c.804+17A>G Single submitter Bardet-Biedl syndrome
• c.804+7T>G Single submitter Bardet-Biedl syndrome
• c.805-10T>A Single submitter Bardet-Biedl syndrome
• c.805-10T>G Single submitter Bardet-Biedl syndrome
• c.805-15G>A Single submitter Bardet-Biedl syndrome
• c.940+18A>G Single submitter Bardet-Biedl syndrome
• c.940+20A>G Single submitter Bardet-Biedl syndrome
• c.941-10T>C Single submitter Bardet-Biedl syndrome
• c.941-19G>A Single submitter Bardet-Biedl syndrome
• c.941-20G>T Single submitter Bardet-Biedl syndrome
• c.941-4del Single submitter Bardet-Biedl syndrome
• c.941-6G>T Single submitter Bardet-Biedl syndrome
• c.941-8C>T Single submitter Bardet-Biedl syndrome
• c.-199A>T Single submitter Bardet-Biedl syndrome 2
• p.Ala102= Single submitter Bardet-Biedl syndrome
• p.Ala122= Single submitter Bardet-Biedl syndrome
• p.Ala143= Single submitter Bardet-Biedl syndrome
• p.Ala167= Single submitter Bardet-Biedl syndrome
• p.Ala20= Single submitter Bardet-Biedl syndrome
• p.Ala220= Single submitter Bardet-Biedl syndrome
• p.Ala271= Single submitter Bardet-Biedl syndrome
• p.Ala288= Single submitter Bardet-Biedl syndrome
• p.Ala322= Single submitter Bardet-Biedl syndrome
• p.Ala33= Single submitter Bardet-Biedl syndrome
• p.Ala333= Single submitter Bardet-Biedl syndrome
• p.Ala361= Single submitter Bardet-Biedl syndrome
• p.Ala364= Single submitter Bardet-Biedl syndrome
• p.Ala414= Single submitter Bardet-Biedl syndrome
• p.Ala485= Single submitter Bardet-Biedl syndrome
• p.Ala504= Single submitter Bardet-Biedl syndrome
• p.Ala507= Single submitter Bardet-Biedl syndrome
• p.Ala54= Single submitter Bardet-Biedl syndrome
• p.Ala572= Single submitter Bardet-Biedl syndrome
• p.Ala576= Single submitter Bardet-Biedl syndrome
• p.Ala584= Single submitter Bardet-Biedl syndrome
• p.Ala612= Single submitter Bardet-Biedl syndrome
• p.Ala682= Single submitter Bardet-Biedl syndrome
• p.Ala697= Single submitter Bardet-Biedl syndrome
• p.Ala719= Single submitter Bardet-Biedl syndrome
• p.Ala80= Single submitter Bardet-Biedl syndrome
• p.Ala91= Single submitter Bardet-Biedl syndrome
• p.Arg17= Single submitter Bardet-Biedl syndrome
• p.Arg23= Single submitter Bardet-Biedl syndrome
• p.Arg237= Single submitter Bardet-Biedl syndrome
• p.Arg272= Single submitter Bardet-Biedl syndrome
• p.Arg275= Single submitter Bardet-Biedl syndrome
• p.Arg325= Single submitter Bardet-Biedl syndrome
• p.Arg382= Single submitter Bardet-Biedl syndrome
• p.Arg476= Single submitter Bardet-Biedl syndrome
• p.Arg48= Single submitter Bardet-Biedl syndrome
• p.Arg480= Single submitter Bardet-Biedl syndrome
• p.Arg681= Single submitter Bardet-Biedl syndrome
• p.Asn162= Single submitter Bardet-Biedl syndrome
• p.Asn242= Single submitter Bardet-Biedl syndrome
• p.Asn393= Single submitter Bardet-Biedl syndrome
• p.Asn49= Single submitter Bardet-Biedl syndrome
• p.Asn500= Single submitter Bardet-Biedl syndrome
• p.Asn517= Single submitter Bardet-Biedl syndrome
• p.Asn557= Single submitter Bardet-Biedl syndrome
• p.Asn619= Single submitter Bardet-Biedl syndrome
• p.Asn663= Single submitter Bardet-Biedl syndrome
• p.Asn676= Single submitter Bardet-Biedl syndrome
• p.Asn99= Single submitter Bardet-Biedl syndrome
• p.Asp104= Single submitter Bardet-Biedl syndrome
• p.Asp161= Single submitter Bardet-Biedl syndrome
• p.Asp172= Single submitter Bardet-Biedl syndrome
• p.Asp174= Single submitter Bardet-Biedl syndrome
• p.Asp25= Single submitter Bardet-Biedl syndrome
• p.Asp274= Single submitter Bardet-Biedl syndrome
• p.Asp296= Single submitter Bardet-Biedl syndrome
• p.Asp330= Single submitter Bardet-Biedl syndrome
• p.Asp336= Single submitter Bardet-Biedl syndrome
• p.Asp409= Single submitter Bardet-Biedl syndrome
• p.Asp523= Single submitter Bardet-Biedl syndrome
• p.Asp562= Single submitter Bardet-Biedl syndrome
• p.Asp613= Single submitter Bardet-Biedl syndrome
• p.Asp630= Single submitter Bardet-Biedl syndrome
• p.Asp65= Single submitter Bardet-Biedl syndrome
• p.Asp90= Single submitter Bardet-Biedl syndrome
• p.Cys442= Single submitter Bardet-Biedl syndrome
• p.Gln304= Single submitter Bardet-Biedl syndrome
• p.Gln346= Single submitter Bardet-Biedl syndrome
• p.Gln477= Single submitter Bardet-Biedl syndrome
• p.Gln508= Single submitter Bardet-Biedl syndrome
• p.Gln73Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gln97= Single submitter Bardet-Biedl syndrome
• p.Glu294= Single submitter Bardet-Biedl syndrome
• p.Glu323= Single submitter Bardet-Biedl syndrome
• p.Glu340= Single submitter Bardet-Biedl syndrome
• p.Glu420= Single submitter Bardet-Biedl syndrome
• p.Glu473= Single submitter Bardet-Biedl syndrome
• p.Glu494= Single submitter Bardet-Biedl syndrome
• p.Glu505= Single submitter Bardet-Biedl syndrome
• p.Glu592= Single submitter Bardet-Biedl syndrome
• p.Glu602= Single submitter Bardet-Biedl syndrome
• p.Glu86= Single submitter Bardet-Biedl syndrome
• p.Gly119= Single submitter Bardet-Biedl syndrome
• p.Gly140= Single submitter Bardet-Biedl syndrome
• p.Gly151= Single submitter Bardet-Biedl syndrome
• p.Gly173= Single submitter Bardet-Biedl syndrome

Uncertain significance 425

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

• c.1527+5G>C Multiple submitters BBS2-related disorder
• c.940+3A>C Multiple submitters Bardet-Biedl syndrome
• c.941-20G>A Multiple submitters retinitis pigmentosa 74
• c.-147G>T Multiple submitters Bardet-Biedl syndrome 2
• c.-163C>T Multiple submitters Bardet-Biedl syndrome 2
• c.-190G>C Multiple submitters Bardet-Biedl syndrome 2
• c.-2T>G Multiple submitters retinitis pigmentosa 74
• c.*34A>G Multiple submitters Bardet-Biedl syndrome 2
• p.Ala120Thr Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Ala136Glu Multiple submitters inherited retinal dystrophy ⚠
• p.Ala143Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala414Thr Multiple submitters retinitis pigmentosa 74 ⚠
• p.Ala485Gly Multiple submitters retinitis pigmentosa 74 ⚠
• p.Ala485Val Multiple submitters retinitis pigmentosa 74 ⚠
• p.Ala584Val Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Ala631Thr Multiple submitters retinitis pigmentosa 74 ⚠
• p.Ala682Thr Multiple submitters Inborn genetic diseases ⚠
• p.Arg237Lys Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Arg23Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg298Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg325Lys Multiple submitters retinitis pigmentosa 74 ⚠
• p.Arg374Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg374Trp Multiple submitters retinitis pigmentosa 74 ⚠
• p.Arg403His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg403Leu Multiple submitters retinitis pigmentosa 74 ⚠
• p.Arg480Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg506Trp Multiple submitters retinitis pigmentosa 74 ⚠
• p.Arg539Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg539Trp Multiple submitters retinitis pigmentosa 74 ⚠
• p.Arg622Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg632His Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Arg643Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg643His Multiple submitters inherited retinal dystrophy ⚠
• p.Arg661His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg684His Multiple submitters Inborn genetic diseases ⚠
• p.Arg686Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg686Trp Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Arg699Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg715Gln Multiple submitters retinitis pigmentosa 74 ⚠
• p.Asn107Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn141Ser Multiple submitters retinitis pigmentosa 74 ⚠
• p.Asn162Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn164Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn242Ser Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Asn380Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn408Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn436Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp161Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp194Gly Multiple submitters BBS2-related disorder ⚠
• p.Asp371Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp616Val Multiple submitters Inborn genetic diseases ⚠
• p.Asp65Val Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Cys142Tyr Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Cys169Arg Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Cys534Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Cys534Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu505Gly Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Glu602Lys Multiple submitters retinitis pigmentosa 74 ⚠
• p.Glu629Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu667Gln Multiple submitters Inborn genetic diseases ⚠
• p.Gly291Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly38Asp Multiple submitters Inborn genetic diseases ⚠
• p.Gly38Ser Multiple submitters retinitis pigmentosa 74 ⚠
• p.Gly515Cys Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Gly515Ser Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Gly542Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly627Arg Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.His373Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.His545Pro Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Ile21Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile445Val Multiple submitters BBS2-related disorder ⚠
• p.Ile496Val Multiple submitters inherited retinal dystrophy ⚠
• p.Ile561Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile702Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu125Pro Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Leu221Pro Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Leu3Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu519Val Multiple submitters retinitis pigmentosa 74 ⚠
• p.Leu62Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys241Thr Multiple submitters retinitis pigmentosa 74 ⚠
• p.Met1Val Multiple submitters inherited retinal dystrophy
• p.Met212Thr Multiple submitters retinitis pigmentosa 74 ⚠
• p.Met324Leu Multiple submitters Inborn genetic diseases ⚠
• p.Met329Thr Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Met483Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met571Ile Multiple submitters retinitis pigmentosa 74 ⚠
• p.Met637Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met645Thr Multiple submitters inherited retinal dystrophy ⚠
• p.Phe112Leu Multiple submitters retinitis pigmentosa 74 ⚠
• p.Pro29Leu Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Ser109Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ser240Leu Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Ser407Phe Multiple submitters retinitis pigmentosa 74 ⚠
• p.Ser53Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser642Arg Multiple submitters Inborn genetic diseases ⚠
• p.Thr127Arg Multiple submitters Inborn genetic diseases ⚠
• p.Thr157Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr207Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr276Ser Multiple submitters retinitis pigmentosa 74 ⚠
• p.Thr321Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr381Ile Multiple submitters retinitis pigmentosa 74 ⚠
• p.Thr386Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr397Ile Multiple submitters retinitis pigmentosa 74 ⚠
• p.Thr397Ser Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Thr709Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr603Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr648Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr658Cys Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Val19Met Multiple submitters Inborn genetic diseases ⚠
• p.Val293Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val461Met Multiple submitters Bardet-Biedl syndrome 2 ⚠
• p.Val596Met Multiple submitters Bardet-Biedl syndrome 2 ⚠
• c.117+5C>T Single submitter Bardet-Biedl syndrome
• c.117+6C>G Single submitter Bardet-Biedl syndrome
• c.118-6T>A Single submitter Bardet-Biedl syndrome
• c.1225+6A>G Single submitter Bardet-Biedl syndrome
• c.1397+6_1397+10delinsTAAAG Single submitter Bardet-Biedl syndrome
• c.1527+3_1527+6del Single submitter Bardet-Biedl syndrome
• c.1798-16T>C Single submitter Bardet-Biedl syndrome
• c.2060-5T>G Single submitter Bardet-Biedl syndrome
• c.345+4A>C Single submitter Bardet-Biedl syndrome
• c.345+4A>G Single submitter Bardet-Biedl syndrome
• c.471+3_471+4delinsCA Single submitter Bardet-Biedl syndrome
• c.471+3A>G Single submitter Bardet-Biedl syndrome
• c.471+5G>A Single submitter Bardet-Biedl syndrome 2
• c.534+2dup Single submitter
• c.534+5G>T Single submitter Bardet-Biedl syndrome
• c.535-15A>T Single submitter Bardet-Biedl syndrome
• c.535-27_535-3del Single submitter Bardet-Biedl syndrome
• c.535-4_535-3insA Single submitter Bardet-Biedl syndrome
• c.717+5G>A Single submitter Bardet-Biedl syndrome
• c.718-10T>A Single submitter Bardet-Biedl syndrome 2
• c.718-3C>T Single submitter Bardet-Biedl syndrome
• c.-118C>T Single submitter Bardet-Biedl syndrome 2
• c.-133C>T Single submitter Bardet-Biedl syndrome 2
• c.-14A>G Single submitter
• c.-161G>A Single submitter Bardet-Biedl syndrome 2
• c.-177C>T Single submitter Bardet-Biedl syndrome 2
• c.-178C>T Single submitter Bardet-Biedl syndrome 2
• c.-208G>A Single submitter Bardet-Biedl syndrome 2
• c.-22C>T Single submitter Bardet-Biedl syndrome 2
• c.-67C>G Single submitter Bardet-Biedl syndrome 2
• c.-9G>A Single submitter Bardet-Biedl syndrome 2
• c.*91C>T Single submitter Bardet-Biedl syndrome 2
• p.Ala122Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala122Val Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ala136Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala136Val Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ala20Thr Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ala271Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala288Thr Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ala370Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala398Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala529Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala564Ser Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ala564Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala564Val Single submitter Inborn genetic diseases ⚠
• p.Ala584Ser Single submitter Inborn genetic diseases ⚠
• p.Ala584Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala678Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala701Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Ala80Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala91Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg17Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg189Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg189Leu Single submitter Inborn genetic diseases ⚠
• p.Arg234Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg23Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Arg272Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg272Pro Single submitter ⚠
• p.Arg275Gln Single submitter inherited retinal dystrophy ⚠
• p.Arg353Cys Single submitter Inborn genetic diseases ⚠
• p.Arg353His Single submitter Inborn genetic diseases ⚠
• p.Arg403Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Arg464Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg48Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg48Trp Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Arg506Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg661Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg661Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg661Ser Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Arg703Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg703Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Asn141Ile Single submitter inherited retinal dystrophy ⚠
• p.Asn148Ser Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Asn162_Ser165del Single submitter Bardet-Biedl syndrome
• p.Asn223Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn266Asp Single submitter Inborn genetic diseases ⚠
• p.Asn284Ile Single submitter retinitis pigmentosa ⚠
• p.Asn284Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn408Lys Single submitter Inborn genetic diseases ⚠
• p.Asn44Lys Single submitter ⚠
• p.Asn49Asp Single submitter ⚠
• p.Asn528Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn651Ser Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Asn664Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn671Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Asn705Lys Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Asn705Ser Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Asn706Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Asp118Val Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Asp255Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Asp300Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Asp330Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Asp336Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Asp450Asn Single submitter ⚠
• p.Asp490Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp559Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Asp566Gly Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Asp630Asn Single submitter inherited retinal dystrophy ⚠
• p.Asp653His Single submitter Bardet-Biedl syndrome ⚠
• p.Asp90Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Cys442Tyr Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Gln304Arg Single submitter inherited retinal dystrophy ⚠
• p.Gln50Arg Single submitter Inborn genetic diseases ⚠
• p.Gln581His Single submitter Inborn genetic diseases ⚠
• p.Glu184Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu522Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Glu602Asp Single submitter Inborn genetic diseases ⚠
• p.Gly151Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly182Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly256Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly26Arg Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Gly277Val Single submitter ⚠
• p.Gly316Asp Single submitter ⚠
• p.Gly316Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Gly326Asp Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Gly375Arg Single submitter retinitis pigmentosa 74 ⚠
• p.Gly38Arg Single submitter Inborn genetic diseases ⚠
• p.Gly392Arg Single submitter ⚠
• p.Gly392Glu Single submitter ⚠
• p.Gly541Val Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Gly717Glu Single submitter Bardet-Biedl syndrome 2 ⚠
• p.His12Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His248Leu Single submitter Bardet-Biedl syndrome 2 ⚠
• p.His384Asn Single submitter Bardet-Biedl syndrome ⚠
• p.His431Tyr Single submitter ⚠
• p.His435Arg Single submitter Bardet-Biedl syndrome 2 ⚠
• p.His51Arg Single submitter Bardet-Biedl syndrome 2 ⚠
• p.His525Asp Single submitter Bardet-Biedl syndrome 2 ⚠
• p.His604Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.His617Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile238Ser Single submitter Inborn genetic diseases ⚠
• p.Ile280Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile306Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile306Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile314Val Single submitter inherited retinal dystrophy ⚠
• p.Ile422Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile445Leu Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ile554Met Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ile554Ser Single submitter Inborn genetic diseases ⚠
• p.Ile567Thr Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Ile577Val Single submitter Inborn genetic diseases ⚠
• p.Ile679Val Single submitter Inborn genetic diseases ⚠
• p.Ile695Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Leu128Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Leu128Trp Single submitter Inborn genetic diseases ⚠
• p.Leu135His Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Leu168Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Leu209Pro Single submitter ⚠
• p.Leu221Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu2Met Single submitter Bardet-Biedl syndrome ⚠
• p.Leu305Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu328His Single submitter Bardet-Biedl syndrome ⚠
• p.Leu328Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu349Trp Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Leu3Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Leu437Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu514Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu550Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu610Phe Single submitter Inborn genetic diseases ⚠
• p.Leu625Pro Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Leu655Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu669Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Leu685Pro Single submitter ⚠
• p.Leu710Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu87Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu93Phe Single submitter ⚠
• p.Lys176Arg Single submitter Inborn genetic diseases ⚠
• p.Lys231Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Lys239= Single submitter Bardet-Biedl syndrome
• p.Lys241Glu Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Lys345Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Lys39Gln Single submitter ⚠
• p.Lys449Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Met212Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Met212Val Single submitter Bardet-Biedl syndrome 2 ⚠
• p.Met299Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Met483Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Met614Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Met614Val Single submitter Bardet-Biedl syndrome ⚠
• p.Met634Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Met640Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Met714Lys Single submitter Inborn genetic diseases ⚠
• p.Phe217Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe217Val Single submitter Inborn genetic diseases ⚠
• p.Phe423Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe531Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Pro134Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Pro211Leu Single submitter Bardet-Biedl syndrome 2 ⚠