BBS1 — 1191 ClinVar variants

Pathogenic 90

• c.124+1G>A Multiple submitters Bardet-Biedl syndrome 1
• c.432+1G>A Multiple submitters Bardet-Biedl syndrome
• c.48-1G>A Multiple submitters Bardet-Biedl syndrome
• c.480-1G>C Multiple submitters Bardet-Biedl syndrome
• c.831-2A>G Multiple submitters Bardet-Biedl syndrome
• c.951+1G>T Multiple submitters Bardet-Biedl syndrome 1
• c.951+58C>T Multiple submitters BBS1-related disorder
• p.Arg146Ter Multiple submitters inherited retinal dystrophy
• p.Arg393Ter Multiple submitters retinitis pigmentosa
• p.Arg483Ter Multiple submitters BBS1-related disorder
• p.Cys40fs Multiple submitters Bardet-Biedl syndrome
• p.Gln128Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln291Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln469Ter Multiple submitters Bardet-Biedl syndrome
• p.Glu549Ter Multiple submitters BBS1-related disorder
• p.Gly73Ter Multiple submitters BBS1-related disorder
• p.Ile296fs Multiple submitters Bardet-Biedl syndrome
• p.Leu505fs Multiple submitters BBS1-related disorder
• p.Leu75fs Multiple submitters BBS1-related disorder
• p.Met1Ile Multiple submitters Bardet-Biedl syndrome
• p.Thr202_Met203insTer Multiple submitters Bardet-Biedl syndrome
• p.Tyr284fs Multiple submitters Bardet-Biedl syndrome
• p.Val366Asp Multiple submitters Bardet-Biedl syndrome ⚠
• c.1214_1215ins[MT113356.1:g.1_2409] Single submitter Bardet-Biedl syndrome
• c.1214_1215insSVA Single submitter Bardet-Biedl syndrome 1
• c.1340-1G>T Single submitter Bardet-Biedl syndrome
• c.(159+1_160-1 Single submitter Bardet-Biedl syndrome
• c.160-?_1110+?del Single submitter Bardet-Biedl syndrome
• c.1695+1G>A Single submitter Bardet-Biedl syndrome
• c.48-1G>T Single submitter Bardet-Biedl syndrome
• c.48-2A>G Single submitter Bardet-Biedl syndrome
• c.585_591+6del Single submitter retinal disorder
• c.723+2T>G Single submitter Bardet-Biedl syndrome
• c.(830+1_831-1 Single submitter inherited retinal dystrophy
• c.830+554_1110+1052del Single submitter Bardet-Biedl syndrome 1
• c.951+2T>A Single submitter Bardet-Biedl syndrome
• c.952-1G>C Single submitter Bardet-Biedl syndrome 1
• p.Ala26fs Single submitter
• p.Ala372fs Single submitter BBS1-related disorder
• p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer Single submitter Bardet-Biedl syndrome
• p.Arg277fs Single submitter Bardet-Biedl syndrome
• p.Arg462fs Single submitter Bardet-Biedl syndrome
• p.Asn117fs Single submitter Bardet-Biedl syndrome
• p.Asn192fs Single submitter Bardet-Biedl syndrome
• p.Asn269fs Single submitter Bardet-Biedl syndrome
• p.Asn352fs Single submitter Bardet-Biedl syndrome
• p.Asp49fs Single submitter Bardet-Biedl syndrome
• p.Cys111fs Single submitter Bardet-Biedl syndrome
• p.Cys285Ter Single submitter Bardet-Biedl syndrome
• p.Gln141Ter Single submitter Bardet-Biedl syndrome
• p.Gln197Ter Single submitter Bardet-Biedl syndrome
• p.Gln338Ter Single submitter Bardet-Biedl syndrome
• p.Gln469fs Single submitter Bardet-Biedl syndrome
• p.Gln506Ter Single submitter Bardet-Biedl syndrome
• p.Glu287Ter Single submitter Bardet-Biedl syndrome
• p.Glu549fs Single submitter Bardet-Biedl syndrome
• p.Glu79Ter Single submitter Bardet-Biedl syndrome
• p.Gly412fs Single submitter Bardet-Biedl syndrome
• p.Gly62fs Single submitter Bardet-Biedl syndrome
• p.His35fs Single submitter Bardet-Biedl syndrome
• p.Leu150Ter Single submitter Bardet-Biedl syndrome
• p.Leu231fs Single submitter Bardet-Biedl syndrome
• p.Leu343fs Single submitter Bardet-Biedl syndrome
• p.Leu478fs Single submitter Bardet-Biedl syndrome
• p.Lys116Ter Single submitter Bardet-Biedl syndrome
• p.Lys536Ter Single submitter Bardet-Biedl syndrome
• p.Met1Arg Single submitter Bardet-Biedl syndrome 1
• p.Met1fs Single submitter Bardet-Biedl syndrome
• p.Met1Leu Single submitter Bardet-Biedl syndrome
• p.Phe250fs Single submitter Bardet-Biedl syndrome
• p.Phe92fs Single submitter Bardet-Biedl syndrome 1
• p.Ser375fs Single submitter
• p.Thr374fs Single submitter Bardet-Biedl syndrome
• p.Thr498fs Single submitter Bardet-Biedl syndrome
• p.Tyr113fs Single submitter Bardet-Biedl syndrome 1
• p.Tyr358fs Single submitter Bardet-Biedl syndrome
• p.Val112_Tyr113insTer Single submitter Bardet-Biedl syndrome
• p.Val230fs Single submitter Bardet-Biedl syndrome
• p.Val346fs Single submitter Bardet-Biedl syndrome
• p.Val415fs Single submitter Bardet-Biedl syndrome 1
• c.1111-?_1695+?del No assertion criteria Bardet-Biedl syndrome
• c.48-3C>G No assertion criteria Bardet-Biedl syndrome 1
• c.592-?_830+?del No assertion criteria Bardet-Biedl syndrome
• c.830+350_1110+217del No assertion criteria Bardet-Biedl syndrome 1
• p.Gly379fs No assertion criteria inherited retinal dystrophy
• p.Leu221fs No assertion criteria inherited retinal dystrophy
• p.Lys565Arg No assertion criteria Bardet-Biedl syndrome ⚠
• p.Pro417fs No assertion criteria BBS1-related disorder
• p.Ser476fs No assertion criteria Bardet-Biedl syndrome
• p.Tyr121Ter No assertion criteria Bardet-Biedl syndrome 1

Pathogenic/Likely pathogenic 48

• c.1110+3G>C Multiple submitters Bardet-Biedl syndrome
• c.1181-9C>G Multiple submitters BBS1-related disorder
• c.124+1G>C Multiple submitters Bardet-Biedl syndrome
• c.1473+2T>C Multiple submitters Bardet-Biedl syndrome
• c.1473+4A>G Multiple submitters Bardet-Biedl syndrome
• c.1608+1G>A Multiple submitters Bardet-Biedl syndrome 1
• c.47+1G>T Multiple submitters Bardet-Biedl syndrome
• c.479+2T>G Multiple submitters Bardet-Biedl syndrome
• c.48-2A>C Multiple submitters Bardet-Biedl syndrome
• c.723+1G>C Multiple submitters Bardet-Biedl syndrome
• c.724-1G>C Multiple submitters BBS1-related disorder
• c.724-8_726del Multiple submitters Bardet-Biedl syndrome
• c.951+1G>A Multiple submitters Bardet-Biedl syndrome
• p.Ala107fs Multiple submitters Bardet-Biedl syndrome
• p.Ala328fs Multiple submitters Bardet-Biedl syndrome
• p.Ala447Thr Multiple submitters BBS1-related disorder ⚠
• p.Arg160Gln Multiple submitters retinal disorder ⚠
• p.Arg277Lys Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg429fs Multiple submitters Bardet-Biedl syndrome
• p.Arg429Ter Multiple submitters Bardet-Biedl syndrome
• p.Arg440Ter Multiple submitters BBS1-related disorder
• p.Arg570Ter Multiple submitters Bardet-Biedl syndrome
• p.Cys377fs Multiple submitters inherited retinal dystrophy
• p.Gln136Ter Multiple submitters Bardet-Biedl syndrome 1
• p.Gln176Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln421Ter Multiple submitters Bardet-Biedl syndrome 1
• p.Glu224Lys Multiple submitters BBS1-related disorder
• p.Glu414Ter Multiple submitters Bardet-Biedl syndrome
• p.Glu484Ter Multiple submitters Bardet-Biedl syndrome 1
• p.Glu553Ter Multiple submitters Bardet-Biedl syndrome 1
• p.Gly318Arg Multiple submitters retinitis pigmentosa
• p.Gly411fs Multiple submitters BBS1-related disorder
• p.Leu251fs Multiple submitters Bardet-Biedl syndrome
• p.Leu288Arg Multiple submitters Bardet-Biedl syndrome
• p.Leu468fs Multiple submitters Bardet-Biedl syndrome
• p.Leu522fs Multiple submitters BBS1-related disorder
• p.Leu539fs Multiple submitters Bardet-Biedl syndrome
• p.Leu54fs Multiple submitters Bardet-Biedl syndrome 1
• p.Met1Thr Multiple submitters Bardet-Biedl syndrome 1
• p.Met1Val Multiple submitters Bardet-Biedl syndrome
• p.Met390Arg Multiple submitters BBS1-related disorder
• p.Pro370= Multiple submitters BBS1-related disorder
• p.Pro61fs Multiple submitters Bardet-Biedl syndrome
• p.Ser7fs Multiple submitters BBS1-related disorder
• p.Thr223fs Multiple submitters Bardet-Biedl syndrome 1
• p.Trp139Ter Multiple submitters Bardet-Biedl syndrome
• p.Tyr467Ter Multiple submitters Bardet-Biedl syndrome 1
• p.Val199fs Multiple submitters Bardet-Biedl syndrome

Likely pathogenic 94

• c.1111-2A>G Multiple submitters Bardet-Biedl syndrome
• c.159+1G>A Multiple submitters Bardet-Biedl syndrome
• c.159+2del Multiple submitters Bardet-Biedl syndrome
• c.433-2A>G Multiple submitters Bardet-Biedl syndrome 1
• c.480-2A>C Multiple submitters Bardet-Biedl syndrome
• c.723+1G>A Multiple submitters Bardet-Biedl syndrome
• c.830+1G>T Multiple submitters Bardet-Biedl syndrome 1
• c.952-1G>A Multiple submitters BBS1-related disorder
• p.Ala142fs Multiple submitters Bardet-Biedl syndrome 1
• p.Gly305Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile389del Multiple submitters Bardet-Biedl syndrome
• p.Ser16Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser561Ter Multiple submitters Bardet-Biedl syndrome 1
• c.1110+1G>C Single submitter Bardet-Biedl syndrome
• c.1110+2T>C Single submitter Bardet-Biedl syndrome
• c.1110+2T>G Single submitter Bardet-Biedl syndrome
• c.1180+1G>T Single submitter Bardet-Biedl syndrome
• c.1181_1191del Single submitter Bardet-Biedl syndrome 1
• c.1181-1G>A Single submitter Autosomal recessive BBS1-related disorders
• c.1181-1G>C Single submitter Bardet-Biedl syndrome
• c.1339+1G>A Single submitter Bardet-Biedl syndrome
• c.1339+2T>A Single submitter Bardet-Biedl syndrome 1
• c.1473+2T>G Single submitter retinitis pigmentosa
• c.1474-1G>A Single submitter Bardet-Biedl syndrome
• c.159+1G>T Single submitter Bardet-Biedl syndrome
• c.160-1G>A Single submitter Bardet-Biedl syndrome
• c.1608+1G>T Single submitter Bardet-Biedl syndrome 1
• c.1696-14_1697del Single submitter Bardet-Biedl syndrome 1
• c.47+2T>G Single submitter Bardet-Biedl syndrome 1
• c.518+1G>A Single submitter Bardet-Biedl syndrome 1
• c.591+1G>A Single submitter Bardet-Biedl syndrome 1
• c.723+2T>C Single submitter Bardet-Biedl syndrome 1
• c.724-1G>A Single submitter Bardet-Biedl syndrome 1
• c.830+2T>A Single submitter Bardet-Biedl syndrome
• c.951+2T>G Single submitter Bardet-Biedl syndrome 1
• c.952-2A>G Single submitter BBS1-related disorder
• c.954del Single submitter Bardet-Biedl syndrome 1
• p.Ala44fs Single submitter Bardet-Biedl syndrome 1
• p.Arg341fs Single submitter Bardet-Biedl syndrome 1
• p.Arg359Pro Single submitter Bardet-Biedl syndrome
• p.Arg393fs Single submitter Bardet-Biedl syndrome 1
• p.Asp145fs Single submitter Bardet-Biedl syndrome 1
• p.Asp258fs Single submitter BBS1-related disorder
• p.Gln256fs Single submitter Bardet-Biedl syndrome 1
• p.Gln573Ter Single submitter Bardet-Biedl syndrome 1
• p.Glu234Ter Single submitter Bardet-Biedl syndrome 1
• p.Glu337fs Single submitter Bardet-Biedl syndrome 1
• p.Glu337Ter Single submitter Bardet-Biedl syndrome 1
• p.Gly396fs Single submitter BBS1-related disorder
• p.Ile194fs Single submitter Bardet-Biedl syndrome 1
• p.Ile200_Thr201del Single submitter BBS1-related disorder
• p.Ile286fs Single submitter Bardet-Biedl syndrome 1
• p.Ile367Asn Single submitter Bardet-Biedl syndrome 1
• p.Leu231del Single submitter Bardet-Biedl syndrome 1
• p.Leu24fs Single submitter Bardet-Biedl syndrome 1
• p.Leu24Ter Single submitter Bardet-Biedl syndrome 1
• p.Leu350fs Single submitter BBS1-related disorder
• p.Leu518fs Single submitter Bardet-Biedl syndrome 1
• p.Leu548fs Single submitter Bardet-Biedl syndrome 1
• p.Lys400Ter Single submitter Bardet-Biedl syndrome 1
• p.Lys500Ter Single submitter Bardet-Biedl syndrome 1
• p.Lys565= Single submitter Bardet-Biedl syndrome
• p.Lys72Ter Single submitter Bardet-Biedl syndrome 1
• p.Pro102fs Single submitter BBS1-related disorder
• p.Pro245fs Single submitter Bardet-Biedl syndrome 1
• p.Pro418fs Single submitter Bardet-Biedl syndrome 1
• p.Ser158Gly Single submitter inherited retinal dystrophy ⚠
• p.Ser16fs Single submitter Bardet-Biedl syndrome 1
• p.Ser375Arg Single submitter Bardet-Biedl syndrome
• p.Ser38fs Single submitter BBS1-related disorder
• p.Thr332_Met333insTer Single submitter BBS1-related disorder
• p.Thr36fs Single submitter Bardet-Biedl syndrome 1
• p.Thr405fs Single submitter Bardet-Biedl syndrome 1
• p.Thr511fs Single submitter Bardet-Biedl syndrome 1
• p.Trp23Ter Single submitter Bardet-Biedl syndrome 1
• p.Trp322Ter Single submitter Bardet-Biedl syndrome 1
• p.Tyr381Ter Single submitter Bardet-Biedl syndrome 1
• p.Tyr457Ter Single submitter BBS1-related disorder
• p.Tyr546Ter Single submitter BBS1-related disorder
• p.Val366fs Single submitter Bardet-Biedl syndrome 1
• p.Val435fs Single submitter Bardet-Biedl syndrome 1
• c.159+2T>A No assertion criteria Bardet-Biedl syndrome 1
• c.1609-2A>T No assertion criteria Bardet-Biedl syndrome 1
• c.47+2T>C No assertion criteria Bardet-Biedl syndrome 1
• c.519-2A>G No assertion criteria Bardet-Biedl syndrome 1
• c.592-1G>C No assertion criteria BBS1-related disorder
• c.830+2T>C No assertion criteria BBS1-related disorder
• p.Ala264fs No assertion criteria Bardet-Biedl syndrome 1
• p.Ala266fs No assertion criteria BBS1-related disorder
• p.Arg465fs No assertion criteria Bardet-Biedl syndrome 1
• p.Glu260fs No assertion criteria Bardet-Biedl syndrome 1
• p.Gly572fs No assertion criteria retinitis pigmentosa
• p.Ser474_Leu475insTer No assertion criteria Bardet-Biedl syndrome 1
• p.Ser529fs No assertion criteria Bardet-Biedl syndrome 1

Conflicting classifications of pathogenicity 51

• c.1110+15C>T Single submitter Bardet-Biedl syndrome
• c.1110+329C>T Single submitter Bardet-Biedl syndrome 1
• c.1340-2A>G Single submitter Bardet-Biedl syndrome
• c.1474-8C>T Single submitter Bardet-Biedl syndrome 1
• c.1608+7G>T Single submitter Bardet-Biedl syndrome
• c.432+13C>T Single submitter Bardet-Biedl syndrome 1
• c.432+5A>G Single submitter Bardet-Biedl syndrome
• c.48-9C>A Single submitter Bardet-Biedl syndrome
• c.830+12C>T Single submitter Bardet-Biedl syndrome
• c.831-3C>G Single submitter Bardet-Biedl syndrome
• c.831-5C>T Single submitter Inborn genetic diseases
• c.951+1G>C Single submitter Bardet-Biedl syndrome
• c.952-7C>G Single submitter Bardet-Biedl syndrome
• p.Ala14Gly Single submitter retinitis pigmentosa ⚠
• p.Ala265Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Ala526Val Single submitter Inborn genetic diseases ⚠
• p.Arg146Gln Single submitter inherited retinal dystrophy ⚠
• p.Arg297Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg297Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg359His Single submitter Bardet-Biedl syndrome ⚠
• p.Arg383Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg532Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Asn20Ser Single submitter Inborn genetic diseases ⚠
• p.Asn426Ser Single submitter Inborn genetic diseases ⚠
• p.Asn524del Single submitter Bardet-Biedl syndrome
• p.Asn545Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asp148Asn Single submitter BBS1-related disorder ⚠
• p.Asp212= Single submitter Bardet-Biedl syndrome
• p.Asp8= Single submitter Bardet-Biedl syndrome 1
• p.Gln64Glu Single submitter Inborn genetic diseases ⚠
• p.Glu79Lys Single submitter inherited retinal dystrophy ⚠
• p.Gly222Arg Single submitter retinitis pigmentosa ⚠
• p.Gly353= Single submitter Bardet-Biedl syndrome
• p.Gly394Asp Single submitter Bardet-Biedl syndrome ⚠
• p.His581= Single submitter Bardet-Biedl syndrome
• p.Ile147= Single submitter Bardet-Biedl syndrome
• p.Ile286= Single submitter Bardet-Biedl syndrome
• p.Leu206Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu402Pro Single submitter inherited retinal dystrophy ⚠
• p.Leu461= Single submitter Bardet-Biedl syndrome
• p.Leu518Pro Single submitter BBS1-related disorder ⚠
• p.Lys280Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Pro149= Single submitter inherited retinal dystrophy
• p.Pro327= Single submitter Bardet-Biedl syndrome
• p.Pro542= Single submitter Bardet-Biedl syndrome
• p.Ser289= Single submitter Bardet-Biedl syndrome 1
• p.Ser529Ala Single submitter Inborn genetic diseases ⚠
• p.Thr446= Single submitter Bardet-Biedl syndrome
• p.Tyr457= Single submitter Bardet-Biedl syndrome 1
• p.Val301Ile Single submitter Inborn genetic diseases ⚠
• p.Val582Ile Single submitter Bardet-Biedl syndrome ⚠

Benign 25

• c.1110+207A>G Multiple submitters
• c.1180+116T>C Multiple submitters Bardet-Biedl syndrome 1
• c.1608+124A>C Multiple submitters
• c.1608+95C>T Multiple submitters Bardet-Biedl syndrome 1
• c.1695+10G>A Multiple submitters Bardet-Biedl syndrome 1
• c.518+55C>T Multiple submitters Bardet-Biedl syndrome 1
• c.723+164G>A Multiple submitters
• c.724-305C>T Multiple submitters
• c.724-8G>C Multiple submitters Bardet-Biedl syndrome
• c.-72C>G Multiple submitters Bardet-Biedl syndrome 1
• c.*428G>C Multiple submitters Bardet-Biedl syndrome 1
• c.*7A>G Multiple submitters Bardet-Biedl syndrome 1
• c.*840A>G Multiple submitters Bardet-Biedl syndrome 1
• c.*955G>A Multiple submitters Bardet-Biedl syndrome 1
• p.Arg450Gln Multiple submitters Bardet-Biedl syndrome
• p.Leu126= Multiple submitters Bardet-Biedl syndrome
• p.Leu471= Multiple submitters Bardet-Biedl syndrome
• c.591+10_591+11dup Single submitter Bardet-Biedl syndrome
• c.591+11del Single submitter Bardet-Biedl syndrome
• c.591+212del Single submitter
• c.592-24G>A Single submitter
• c.723+297A>G Single submitter
• c.951+11dup Single submitter Bardet-Biedl syndrome
• c.*1215T>C Single submitter Bardet-Biedl syndrome 1
• c.*187C>T Single submitter Bardet-Biedl syndrome 1

Benign/Likely benign 5

• c.125-14C>T Multiple submitters Bardet-Biedl syndrome
• c.433-5C>T Multiple submitters Bardet-Biedl syndrome
• p.Gln573= Multiple submitters Bardet-Biedl syndrome
• p.Glu234Lys Multiple submitters BBS1-related ciliopathy
• p.Val346Ile Multiple submitters Bardet-Biedl syndrome

Likely benign 485

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

• c.1110+16G>A Multiple submitters Bardet-Biedl syndrome
• c.1180+20G>C Multiple submitters Bardet-Biedl syndrome
• c.124+17A>G Multiple submitters Bardet-Biedl syndrome
• c.1339+16G>A Multiple submitters Bardet-Biedl syndrome
• c.1340-13C>T Multiple submitters Bardet-Biedl syndrome
• c.1473+16_1473+18dup Multiple submitters Bardet-Biedl syndrome
• c.1473+20C>T Multiple submitters Bardet-Biedl syndrome
• c.1474-14C>T Multiple submitters Bardet-Biedl syndrome
• c.159+14C>T Multiple submitters Bardet-Biedl syndrome
• c.1695+9C>T Multiple submitters Bardet-Biedl syndrome
• c.432+17G>C Multiple submitters Bardet-Biedl syndrome 1
• c.47+20A>G Multiple submitters Bardet-Biedl syndrome
• c.479+20T>C Multiple submitters Bardet-Biedl syndrome
• c.48-11C>T Multiple submitters Bardet-Biedl syndrome
• c.480-14C>T Multiple submitters Bardet-Biedl syndrome
• c.591+18T>C Multiple submitters Bardet-Biedl syndrome
• c.723+7G>A Multiple submitters Bardet-Biedl syndrome
• c.724-15G>A Multiple submitters Bardet-Biedl syndrome
• c.724-16C>T Multiple submitters Bardet-Biedl syndrome
• c.830+12del Multiple submitters Bardet-Biedl syndrome 1
• c.830+13G>A Multiple submitters Bardet-Biedl syndrome
• c.951+16AGC[2] Multiple submitters Bardet-Biedl syndrome
• c.951+7C>A Multiple submitters Bardet-Biedl syndrome
• c.952-18C>T Multiple submitters Bardet-Biedl syndrome
• c.952-19G>A Multiple submitters Bardet-Biedl syndrome
• c.952-20C>T Multiple submitters Bardet-Biedl syndrome
• p.Ala11= Multiple submitters Bardet-Biedl syndrome
• p.Ala19= Multiple submitters Bardet-Biedl syndrome
• p.Ala2= Multiple submitters Bardet-Biedl syndrome
• p.Ala264= Multiple submitters Bardet-Biedl syndrome
• p.Ala266= Multiple submitters Bardet-Biedl syndrome
• p.Ala490= Multiple submitters Bardet-Biedl syndrome
• p.Ala526= Multiple submitters Bardet-Biedl syndrome
• p.Ala591= Multiple submitters Bardet-Biedl syndrome
• p.Ala592= Multiple submitters Bardet-Biedl syndrome
• p.Arg460= Multiple submitters Bardet-Biedl syndrome
• p.Asn192= Multiple submitters Bardet-Biedl syndrome
• p.Asp455= Multiple submitters Bardet-Biedl syndrome
• p.Gln128= Multiple submitters Bardet-Biedl syndrome
• p.Glu18= Multiple submitters Bardet-Biedl syndrome 1
• p.His489= Multiple submitters Bardet-Biedl syndrome
• p.Ile399= Multiple submitters Bardet-Biedl syndrome
• p.Leu228= Multiple submitters Bardet-Biedl syndrome
• p.Leu468= Multiple submitters Bardet-Biedl syndrome
• p.Leu495= Multiple submitters Bardet-Biedl syndrome
• p.Leu518= Multiple submitters Bardet-Biedl syndrome
• p.Leu93= Multiple submitters Bardet-Biedl syndrome
• p.Phe250= Multiple submitters Bardet-Biedl syndrome
• p.Phe378= Multiple submitters Bardet-Biedl syndrome
• p.Pro120= Multiple submitters Bardet-Biedl syndrome
• p.Ser246= Multiple submitters Bardet-Biedl syndrome
• p.Thr202= Multiple submitters Bardet-Biedl syndrome
• p.Thr480= Multiple submitters Bardet-Biedl syndrome
• p.Tyr381= Multiple submitters Bardet-Biedl syndrome
• c.1110+10A>G Single submitter Bardet-Biedl syndrome
• c.1110+12C>A Single submitter Bardet-Biedl syndrome
• c.1110+13_1110+14del Single submitter Bardet-Biedl syndrome
• c.1110+14C>G Single submitter Bardet-Biedl syndrome
• c.1110+19A>T Single submitter Bardet-Biedl syndrome
• c.1110+20T>A Single submitter Bardet-Biedl syndrome
• c.1110+313G>A Single submitter
• c.1110+323G>C Single submitter
• c.1110+45C>T Single submitter
• c.1110+8C>A Single submitter Bardet-Biedl syndrome
• c.1110+9C>T Single submitter Bardet-Biedl syndrome
• c.1111-10C>T Single submitter Bardet-Biedl syndrome
• c.1111-12G>A Single submitter Bardet-Biedl syndrome
• c.1111-13C>T Single submitter Bardet-Biedl syndrome
• c.1111-17_1111-16del Single submitter Bardet-Biedl syndrome
• c.1111-18T>G Single submitter Bardet-Biedl syndrome
• c.1111-4A>G Single submitter Bardet-Biedl syndrome
• c.1111-5C>A Single submitter Bardet-Biedl syndrome
• c.1111-5C>T Single submitter Bardet-Biedl syndrome
• c.1111-6A>G Single submitter Bardet-Biedl syndrome
• c.1111-6A>T Single submitter Bardet-Biedl syndrome
• c.1111-8C>T Single submitter Bardet-Biedl syndrome
• c.1180+13A>G Single submitter Bardet-Biedl syndrome
• c.1180+17C>T Single submitter Bardet-Biedl syndrome
• c.1181-10A>G Single submitter Bardet-Biedl syndrome
• c.1181-14G>A Single submitter Bardet-Biedl syndrome
• c.1181-14G>C Single submitter Bardet-Biedl syndrome
• c.1181-15T>C Single submitter Bardet-Biedl syndrome
• c.1181-17A>G Single submitter Bardet-Biedl syndrome
• c.1181-4C>A Single submitter Bardet-Biedl syndrome
• c.1181-6C>T Single submitter Bardet-Biedl syndrome
• c.124+11G>A Single submitter Bardet-Biedl syndrome
• c.124+13A>G Single submitter Bardet-Biedl syndrome
• c.124+17A>C Single submitter Bardet-Biedl syndrome
• c.124+18G>A Single submitter Bardet-Biedl syndrome
• c.124+19G>A Single submitter Bardet-Biedl syndrome
• c.124+19G>C Single submitter Bardet-Biedl syndrome
• c.124+9C>T Single submitter Bardet-Biedl syndrome
• c.125-11T>C Single submitter Bardet-Biedl syndrome
• c.125-15C>T Single submitter Bardet-Biedl syndrome
• c.125-18G>T Single submitter Bardet-Biedl syndrome
• c.125-4C>T Single submitter Bardet-Biedl syndrome
• c.125-9G>A Single submitter Bardet-Biedl syndrome
• c.1339+11G>A Single submitter Bardet-Biedl syndrome
• c.1339+13C>G Single submitter Bardet-Biedl syndrome
• c.1339+15G>A Single submitter Bardet-Biedl syndrome
• c.1339+16G>C Single submitter Bardet-Biedl syndrome
• c.1339+20C>A Single submitter Bardet-Biedl syndrome
• c.1339+7C>G Single submitter Bardet-Biedl syndrome
• c.1340-10T>G Single submitter Bardet-Biedl syndrome
• c.1340-15G>A Single submitter Bardet-Biedl syndrome
• c.1340-17G>C Single submitter Bardet-Biedl syndrome
• c.1340-5C>T Single submitter Bardet-Biedl syndrome
• c.1340-6C>T Single submitter Bardet-Biedl syndrome
• c.1473+16A>T Single submitter Bardet-Biedl syndrome
• c.1473+23_1473+24del Single submitter
• c.1473+7del Single submitter Bardet-Biedl syndrome
• c.1473+9C>A Single submitter Bardet-Biedl syndrome
• c.1474-10C>T Single submitter Bardet-Biedl syndrome
• c.1474-11C>T Single submitter Bardet-Biedl syndrome
• c.1474-16C>T Single submitter Bardet-Biedl syndrome
• c.1474-18C>T Single submitter Bardet-Biedl syndrome
• c.1474-19C>T Single submitter Bardet-Biedl syndrome
• c.1474-7T>C Single submitter Bardet-Biedl syndrome
• c.159+11C>T Single submitter Bardet-Biedl syndrome
• c.159+11dup Single submitter Bardet-Biedl syndrome
• c.159+13C>A Single submitter Bardet-Biedl syndrome
• c.159+13C>T Single submitter Bardet-Biedl syndrome
• c.159+15C>A Single submitter Bardet-Biedl syndrome
• c.159+16T>A Single submitter Bardet-Biedl syndrome
• c.160-10C>G Single submitter Bardet-Biedl syndrome
• c.160-12C>T Single submitter Bardet-Biedl syndrome
• c.160-5T>G Single submitter Bardet-Biedl syndrome
• c.160-6C>T Single submitter Bardet-Biedl syndrome
• c.160-7C>T Single submitter Bardet-Biedl syndrome
• c.1608+16C>T Single submitter Bardet-Biedl syndrome
• c.1608+7G>A Single submitter Bardet-Biedl syndrome
• c.1608+8A>G Single submitter Bardet-Biedl syndrome
• c.1608+8A>T Single submitter Bardet-Biedl syndrome
• c.1608+9T>C Single submitter Bardet-Biedl syndrome
• c.1609-10C>G Single submitter Bardet-Biedl syndrome
• c.1609-14G>T Single submitter Bardet-Biedl syndrome
• c.1609-4T>A Single submitter Bardet-Biedl syndrome
• c.1609-9C>T Single submitter Bardet-Biedl syndrome
• c.1695+13C>G Single submitter Bardet-Biedl syndrome
• c.1696-13C>T Single submitter Bardet-Biedl syndrome
• c.1696-14C>A Single submitter Bardet-Biedl syndrome
• c.1696-16G>A Single submitter Bardet-Biedl syndrome
• c.1696-4A>G Single submitter Bardet-Biedl syndrome
• c.1696-5C>T Single submitter Bardet-Biedl syndrome
• c.1696-6C>T Single submitter Bardet-Biedl syndrome
• c.1696-7T>C Single submitter Bardet-Biedl syndrome
• c.1696-8C>T Single submitter Bardet-Biedl syndrome
• c.1696-9C>T Single submitter Bardet-Biedl syndrome
• c.432+12A>G Single submitter Bardet-Biedl syndrome
• c.432+14A>C Single submitter Bardet-Biedl syndrome
• c.432+14A>G Single submitter Bardet-Biedl syndrome
• c.432+17G>A Single submitter Bardet-Biedl syndrome
• c.432+7A>G Single submitter Bardet-Biedl syndrome
• c.433-11C>T Single submitter Bardet-Biedl syndrome
• c.433-19T>C Single submitter Bardet-Biedl syndrome
• c.433-20C>G Single submitter Bardet-Biedl syndrome
• c.433-20C>T Single submitter Bardet-Biedl syndrome
• c.433-4A>G Single submitter Bardet-Biedl syndrome
• c.433-6T>G Single submitter Bardet-Biedl syndrome
• c.433-7G>C Single submitter Bardet-Biedl syndrome
• c.433-9T>C Single submitter Bardet-Biedl syndrome
• c.47+12G>A Single submitter Bardet-Biedl syndrome
• c.47+15C>A Single submitter Bardet-Biedl syndrome
• c.47+16C>T Single submitter Bardet-Biedl syndrome
• c.47+19A>C Single submitter Bardet-Biedl syndrome
• c.47+19A>G Single submitter Bardet-Biedl syndrome
• c.47+20A>C Single submitter Bardet-Biedl syndrome
• c.47+7G>A Single submitter Bardet-Biedl syndrome
• c.47+7G>C Single submitter Bardet-Biedl syndrome
• c.47+7G>T Single submitter Bardet-Biedl syndrome
• c.47+9A>C Single submitter Bardet-Biedl syndrome
• c.47+9A>G Single submitter Bardet-Biedl syndrome
• c.47+9A>T Single submitter Bardet-Biedl syndrome
• c.479+12C>T Single submitter Bardet-Biedl syndrome
• c.479+16C>T Single submitter Bardet-Biedl syndrome
• c.479+7G>A Single submitter Bardet-Biedl syndrome
• c.479+9C>T Single submitter Bardet-Biedl syndrome
• c.48-10C>T Single submitter Bardet-Biedl syndrome
• c.48-13C>A Single submitter Bardet-Biedl syndrome
• c.48-13C>G Single submitter Bardet-Biedl syndrome
• c.48-13C>T Single submitter Bardet-Biedl syndrome
• c.48-14dup Single submitter Bardet-Biedl syndrome
• c.48-18T>C Single submitter Bardet-Biedl syndrome
• c.48-4C>G Single submitter Bardet-Biedl syndrome
• c.48-7C>T Single submitter Bardet-Biedl syndrome
• c.48-8A>G Single submitter Bardet-Biedl syndrome
• c.48-9C>G Single submitter Bardet-Biedl syndrome
• c.48-9C>T Single submitter Bardet-Biedl syndrome
• c.480-13C>A Single submitter Bardet-Biedl syndrome
• c.480-13C>T Single submitter Bardet-Biedl syndrome
• c.480-4G>T Single submitter Bardet-Biedl syndrome
• c.480-5T>C Single submitter Bardet-Biedl syndrome
• c.480-9T>C Single submitter Bardet-Biedl syndrome
• c.518+12G>A Single submitter Bardet-Biedl syndrome
• c.518+15G>T Single submitter Bardet-Biedl syndrome
• c.518+19G>A Single submitter Bardet-Biedl syndrome
• c.518+20C>T Single submitter Bardet-Biedl syndrome
• c.519-12C>A Single submitter Bardet-Biedl syndrome
• c.519-16T>G Single submitter Bardet-Biedl syndrome
• c.519-20C>G Single submitter Bardet-Biedl syndrome
• c.591+10C>A Single submitter Bardet-Biedl syndrome
• c.591+10C>T Single submitter Bardet-Biedl syndrome
• c.591+11C>T Single submitter Bardet-Biedl syndrome
• c.591+13T>C Single submitter Bardet-Biedl syndrome
• c.591+18T>G Single submitter Bardet-Biedl syndrome
• c.591+7C>G Single submitter Bardet-Biedl syndrome
• c.591+8C>T Single submitter Bardet-Biedl syndrome
• c.591+9C>G Single submitter Bardet-Biedl syndrome
• c.592-10C>T Single submitter Bardet-Biedl syndrome
• c.592-11T>A Single submitter Bardet-Biedl syndrome
• c.592-13A>T Single submitter Bardet-Biedl syndrome
• c.592-17C>T Single submitter Bardet-Biedl syndrome
• c.592-18C>A Single submitter Bardet-Biedl syndrome
• c.592-19C>A Single submitter Bardet-Biedl syndrome
• c.592-19C>T Single submitter Bardet-Biedl syndrome
• c.592-20C>T Single submitter Bardet-Biedl syndrome
• c.592-4G>A Single submitter Bardet-Biedl syndrome
• c.592-5T>C Single submitter Bardet-Biedl syndrome
• c.592-6C>A Single submitter Bardet-Biedl syndrome
• c.592-6C>G Single submitter Bardet-Biedl syndrome
• c.592-6C>T Single submitter Bardet-Biedl syndrome
• c.592-7T>C Single submitter Bardet-Biedl syndrome
• c.723+11G>C Single submitter Bardet-Biedl syndrome
• c.723+12G>A Single submitter Bardet-Biedl syndrome
• c.723+13T>C Single submitter Bardet-Biedl syndrome
• c.723+16G>T Single submitter Bardet-Biedl syndrome
• c.723+17G>A Single submitter Bardet-Biedl syndrome
• c.723+19C>T Single submitter Bardet-Biedl syndrome
• c.723+7G>C Single submitter Bardet-Biedl syndrome
• c.724-13T>G Single submitter Bardet-Biedl syndrome
• c.724-15G>T Single submitter Bardet-Biedl syndrome
• c.724-17dup Single submitter Bardet-Biedl syndrome
• c.724-17G>T Single submitter Bardet-Biedl syndrome
• c.724-18T>A Single submitter Bardet-Biedl syndrome
• c.724-18T>C Single submitter Bardet-Biedl syndrome
• c.724-20T>G Single submitter Bardet-Biedl syndrome
• c.724-4G>A Single submitter Bardet-Biedl syndrome
• c.724-8_724-6del Single submitter Bardet-Biedl syndrome
• c.724-9T>C Single submitter Bardet-Biedl syndrome
• c.830+10T>C Single submitter Bardet-Biedl syndrome
• c.830+10T>G Single submitter Bardet-Biedl syndrome
• c.830+16G>A Single submitter Bardet-Biedl syndrome
• c.830+20C>G Single submitter Bardet-Biedl syndrome
• c.830+9A>G Single submitter Bardet-Biedl syndrome
• c.830+9A>T Single submitter Bardet-Biedl syndrome
• c.831-13_831-11del Single submitter Bardet-Biedl syndrome
• c.831-15T>G Single submitter Bardet-Biedl syndrome
• c.831-18G>A Single submitter Bardet-Biedl syndrome
• c.831-18G>C Single submitter Bardet-Biedl syndrome
• c.831-19T>C Single submitter Bardet-Biedl syndrome
• c.831-20G>A Single submitter Bardet-Biedl syndrome
• c.831-4A>G Single submitter Bardet-Biedl syndrome
• c.951+10C>T Single submitter Bardet-Biedl syndrome
• c.951+51C>A Single submitter
• c.951+55T>C Single submitter
• c.952-12G>A Single submitter Bardet-Biedl syndrome
• c.952-14C>A Single submitter Bardet-Biedl syndrome
• c.952-15G>A Single submitter Bardet-Biedl syndrome
• c.952-16G>A Single submitter Bardet-Biedl syndrome
• c.952-20C>A Single submitter Bardet-Biedl syndrome
• c.952-4C>T Single submitter Bardet-Biedl syndrome
• c.952-5G>A Single submitter Bardet-Biedl syndrome
• c.952-70C>T Single submitter
• c.952-7C>T Single submitter Bardet-Biedl syndrome
• c.952-9C>T Single submitter Bardet-Biedl syndrome
• c.*219A>G Single submitter Bardet-Biedl syndrome 1
• p.Ala103= Single submitter Bardet-Biedl syndrome
• p.Ala163= Single submitter Bardet-Biedl syndrome
• p.Ala235= Single submitter Bardet-Biedl syndrome
• p.Ala265= Single submitter Bardet-Biedl syndrome
• p.Ala32= Single submitter Bardet-Biedl syndrome
• p.Ala329= Single submitter Bardet-Biedl syndrome
• p.Ala345= Single submitter Bardet-Biedl syndrome
• p.Ala362= Single submitter Bardet-Biedl syndrome
• p.Ala372= Single submitter Bardet-Biedl syndrome
• p.Ala4= Single submitter Bardet-Biedl syndrome
• p.Ala406= Single submitter Bardet-Biedl syndrome
• p.Ala422= Single submitter Bardet-Biedl syndrome
• p.Ala44= Single submitter Bardet-Biedl syndrome
• p.Ala447= Single submitter Bardet-Biedl syndrome
• p.Ala451= Single submitter Bardet-Biedl syndrome
• p.Ala464= Single submitter Bardet-Biedl syndrome
• p.Ala470= Single submitter Bardet-Biedl syndrome
• p.Ala482= Single submitter Bardet-Biedl syndrome
• p.Ala580= Single submitter Bardet-Biedl syndrome
• p.Ala593= Single submitter Bardet-Biedl syndrome
• p.Ala84= Single submitter Bardet-Biedl syndrome
• p.Ala89= Single submitter Bardet-Biedl syndrome
• p.Ala90= Single submitter Bardet-Biedl syndrome
• p.Arg100= Single submitter Bardet-Biedl syndrome
• p.Arg119= Single submitter Bardet-Biedl syndrome
• p.Arg196= Single submitter Bardet-Biedl syndrome
• p.Arg380= Single submitter Bardet-Biedl syndrome
• p.Arg383= Single submitter Bardet-Biedl syndrome
• p.Arg404= Single submitter Bardet-Biedl syndrome
• p.Arg440= Single submitter Bardet-Biedl syndrome
• p.Arg450= Single submitter Bardet-Biedl syndrome
• p.Arg465= Single submitter Bardet-Biedl syndrome
• p.Arg532= Single submitter Bardet-Biedl syndrome
• p.Arg67= Single submitter Bardet-Biedl syndrome

Uncertain significance 393

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

• c.1339+5G>A Multiple submitters Bardet-Biedl syndrome
• c.159+4A>G Multiple submitters Bardet-Biedl syndrome
• c.1609-7A>G Multiple submitters Bardet-Biedl syndrome
• c.518+5G>A Multiple submitters Bardet-Biedl syndrome 1
• c.-3A>G Multiple submitters Bardet-Biedl syndrome 1
• p.Ala142Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala184Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala265Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala265Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala26Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala290Thr Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Ala328Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala345Ser Multiple submitters BBS1-related ciliopathy ⚠
• p.Ala490Thr Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Ala4Ser Multiple submitters BBS1-related disorder ⚠
• p.Ala580Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala591Val Multiple submitters inherited retinal dystrophy ⚠
• p.Ala593Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala84Thr Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg100Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg100Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg119Ser Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg160Trp Multiple submitters inherited retinal dystrophy ⚠
• p.Arg196Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg262Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg268Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg268His Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg341Gln Multiple submitters BBS1-related disorder ⚠
• p.Arg356Cys Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg356His Multiple submitters BBS1-related disorder ⚠
• p.Arg380Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg380Trp Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg393Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg404His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg429Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg432Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg460Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg460His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg462Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg462His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg462Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg465His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg483Gln Multiple submitters inherited retinal dystrophy ⚠
• p.Arg512Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg512His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg512Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg512Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg532Leu Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg532Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg570Gln Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Arg67Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg67His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn352Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp212Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp258His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp25Glu Multiple submitters inherited retinal dystrophy ⚠
• p.Asp371Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp49His Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Asp562Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Cys111Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gln136Arg Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Gln170Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln437Leu Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Gln64His Multiple submitters Inborn genetic diseases ⚠
• p.Glu15Lys Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Glu164Gly Multiple submitters Inborn genetic diseases ⚠
• p.Glu252Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu51Ala Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Glu588Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gly270Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly382Arg Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Gly416Cys Multiple submitters Inborn genetic diseases ⚠
• p.Gly445Ala Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Gly559Asp Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Gly57Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.His189Arg Multiple submitters inherited retinal dystrophy ⚠
• p.His189Gln Multiple submitters inherited retinal dystrophy ⚠
• p.His339Leu Multiple submitters BBS1-related disorder ⚠
• p.His449Tyr Multiple submitters BBS1-related ciliopathy ⚠
• p.His97Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile296Phe Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Ile296Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile563Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu106Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu106Val Multiple submitters BBS1-related ciliopathy ⚠
• p.Leu251Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu363Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu503His Multiple submitters Bardet-Biedl syndrome
• p.Leu59Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu93Phe Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Lys116Glu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys123Asn Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Lys190Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys226Arg Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Lys53Glu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys565Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met242Ile Multiple submitters Inborn genetic diseases
• p.Met242Thr Multiple submitters Bardet-Biedl syndrome
• p.Met584Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Phe551Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Pro110His Multiple submitters inherited retinal dystrophy ⚠
• p.Pro133Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro166Ala Multiple submitters Inborn genetic diseases ⚠
• p.Pro245Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro30Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro370Leu Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Pro531Leu Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Pro547His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro81Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser217Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser554Cys Multiple submitters inherited retinal dystrophy ⚠
• p.Ser574Asn Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Ser7Thr Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Thr162Met Multiple submitters Inborn genetic diseases ⚠
• p.Thr201Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr223Ala Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Thr374Ser Multiple submitters inherited retinal dystrophy ⚠
• p.Thr392Asn Multiple submitters Bardet-Biedl syndrome
• p.Thr438Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr480Lys Multiple submitters Inborn genetic diseases ⚠
• p.Thr480Met Multiple submitters inherited retinal dystrophy ⚠
• p.Tyr28Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val199Ile Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Val247Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val249Ile Multiple submitters BBS1-related disorder ⚠
• p.Val293Met Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Val303Ala Multiple submitters inherited retinal dystrophy ⚠
• p.Val304Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val415Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val415Met Multiple submitters Inborn genetic diseases ⚠
• p.Val435Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val491= Multiple submitters Bardet-Biedl syndrome 1
• p.Val491Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val492Phe Multiple submitters Inborn genetic diseases ⚠
• p.Val55Met Multiple submitters inherited retinal dystrophy ⚠
• p.Val568Met Multiple submitters Bardet-Biedl syndrome 1 ⚠
• p.Val76Glu Multiple submitters Bardet-Biedl syndrome ⚠
• c.1110+30_1110+33del Single submitter Bardet-Biedl syndrome 1
• c.1180+5G>A Single submitter Bardet-Biedl syndrome 1
• c.1181-3T>G Single submitter Bardet-Biedl syndrome
• c.1339+163G>A Single submitter Bardet-Biedl syndrome 1
• c.1340-35C>T Single submitter Bardet-Biedl syndrome 1
• c.1473+3G>A Single submitter Bardet-Biedl syndrome
• c.159+23G>A Single submitter Bardet-Biedl syndrome 1
• c.1695+4G>C Single submitter Bardet-Biedl syndrome
• c.1696-10T>G Single submitter Bardet-Biedl syndrome
• c.1696-1G>A Single submitter Bardet-Biedl syndrome
• c.47+8C>T Single submitter
• c.480-28G>C Single submitter Bardet-Biedl syndrome 1
• c.480-3C>G Single submitter Bardet-Biedl syndrome 1
• c.592-20C>G Single submitter Bardet-Biedl syndrome
• c.592-21A>T Single submitter retinitis pigmentosa
• c.592-7_592-5del Single submitter Bardet-Biedl syndrome
• c.723+14C>G Single submitter Bardet-Biedl syndrome
• c.724-5T>A Single submitter Bardet-Biedl syndrome
• c.830+3A>G Single submitter Bardet-Biedl syndrome 1
• c.830+72A>G Single submitter Bardet-Biedl syndrome 1
• c.831-3C>T Single submitter Bardet-Biedl syndrome
• c.951+3G>A Single submitter Bardet-Biedl syndrome
• c.952-8C>G Single submitter Bardet-Biedl syndrome
• c.952-9C>A Single submitter Bardet-Biedl syndrome 1
• c.*104G>C Single submitter Bardet-Biedl syndrome 1
• c.*1088G>A Single submitter Bardet-Biedl syndrome 1
• c.*10T>A Single submitter Bardet-Biedl syndrome 1
• c.*1217C>A Single submitter Bardet-Biedl syndrome 1
• c.*1274A>G Single submitter Bardet-Biedl syndrome 1
• c.*1349T>C Single submitter Bardet-Biedl syndrome 1
• c.*259C>A Single submitter Bardet-Biedl syndrome 1
• c.*473C>T Single submitter Bardet-Biedl syndrome 1
• c.*474G>A Single submitter Bardet-Biedl syndrome 1
• c.*514C>T Single submitter Bardet-Biedl syndrome 1
• c.*51C>G Single submitter Bardet-Biedl syndrome 1
• c.*522C>T Single submitter Bardet-Biedl syndrome 1
• c.*776G>A Single submitter Bardet-Biedl syndrome 1
• c.*855G>A Single submitter Bardet-Biedl syndrome 1
• c.*886C>T Single submitter Bardet-Biedl syndrome 1
• c.*950C>T Single submitter Bardet-Biedl syndrome 1
• p.Ala105Thr Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Ala11Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala14Asp Single submitter ⚠
• p.Ala14Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala240Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ala264Pro Single submitter Inborn genetic diseases ⚠
• p.Ala2Ser Single submitter ⚠
• p.Ala362Ser Single submitter Inborn genetic diseases ⚠
• p.Ala3Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ala422Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala44Thr Single submitter Inborn genetic diseases ⚠
• p.Ala466Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala526Glu Single submitter Inborn genetic diseases ⚠
• p.Ala592Thr Single submitter ⚠
• p.Ala593Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg160= Single submitter Bardet-Biedl syndrome
• p.Arg196Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg262Trp Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Arg341Pro Single submitter Bardet-Biedl syndrome 1
• p.Arg341Trp Single submitter Bardet-Biedl syndrome
• p.Arg359Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg359Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Arg380Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Arg383Gln Single submitter ⚠
• p.Arg393Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg404Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg429Gly Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Arg432Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg450Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg465Cys Single submitter ⚠
• p.Arg570Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asn192Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn192Thr Single submitter Inborn genetic diseases ⚠
• p.Asn269Ser Single submitter ⚠
• p.Asn386Asp Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Asn545His Single submitter Inborn genetic diseases ⚠
• p.Asp137Asn Single submitter ⚠
• p.Asp145Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Asp278Glu Single submitter inherited retinal dystrophy ⚠
• p.Asp385Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Asp58His Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Cys12Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys285Phe Single submitter ⚠
• p.Gln141Glu Single submitter Inborn genetic diseases ⚠
• p.Gln188His Single submitter inherited retinal dystrophy ⚠
• p.Gln256His Single submitter Bardet-Biedl syndrome
• p.Gln421Lys Single submitter Inborn genetic diseases ⚠
• p.Gln65Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Glu178Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu227Val Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Glu287Lys Single submitter ⚠
• p.Glu525Lys Single submitter Inborn genetic diseases ⚠
• p.Glu588Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Gly109Asp Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Gly294= Single submitter Bardet-Biedl syndrome 1
• p.Gly305Asp Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Gly313Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Gly395Val Single submitter Bardet-Biedl syndrome ⚠
• p.Gly496Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Gly543Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gly572Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Gly60Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly60Asp Single submitter Inborn genetic diseases ⚠
• p.Gly62Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His312Arg Single submitter Inborn genetic diseases ⚠
• p.His35Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His449Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ile194Met Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Ile296Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile34Thr Single submitter ⚠
• p.Ile357= Single submitter Bardet-Biedl syndrome 1
• p.Ile398Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Leu134Met Single submitter ⚠
• p.Leu172Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu221Met Single submitter Inborn genetic diseases ⚠
• p.Leu229Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu244Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu311Pro Single submitter Inborn genetic diseases ⚠
• p.Leu336Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu388Pro Single submitter ⚠
• p.Leu388Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu43Val Single submitter ⚠
• p.Leu46Ser Single submitter ⚠
• p.Leu503Ile Single submitter ⚠
• p.Leu515Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Leu515Pro Single submitter Inborn genetic diseases ⚠
• p.Leu522Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu548Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu68Arg Single submitter Inborn genetic diseases ⚠
• p.Leu75Met Single submitter Bardet-Biedl syndrome ⚠
• p.Leu85Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Lys208del Single submitter Bardet-Biedl syndrome 1
• p.Lys280Arg Single submitter Inborn genetic diseases ⚠
• p.Lys500Gln Single submitter Inborn genetic diseases ⚠
• p.Lys53= Single submitter Bardet-Biedl syndrome
• p.Lys536Arg Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Lys558Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Lys558Asn Single submitter Inborn genetic diseases ⚠
• p.Lys558Gln Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Lys565Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Lys69Asn Single submitter ⚠
• p.Met155Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Met155Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Met182Thr Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Met242Lys Single submitter Inborn genetic diseases ⚠
• p.Met31Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Met326Leu Single submitter ⚠
• p.Met333Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Met390Val Single submitter Bardet-Biedl syndrome ⚠
• p.Met423Val Single submitter Bardet-Biedl syndrome ⚠
• p.Met77Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Met94Val Single submitter Bardet-Biedl syndrome ⚠
• p.Phe236Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe257Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe534Ala Single submitter Bardet-Biedl syndrome
• p.Phe534Val Single submitter ⚠
• p.Phe92Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Pro149Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Pro149Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Pro248Thr Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Pro370Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Pro418Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Pro497Thr Single submitter Bardet-Biedl syndrome 1 ⚠