BBS10 — 1021 ClinVar variants

Pathogenic 89

• p.Ala14fs Multiple submitters Inborn genetic diseases
• p.Arg256Ter Multiple submitters Bardet-Biedl syndrome
• p.Asn364fs Multiple submitters BBS10-related disorder
• p.Asp535fs Multiple submitters Bardet-Biedl syndrome
• p.Cys91fs Multiple submitters BBS10-related disorder
• p.Cys91Trp Multiple submitters BBS10-related disorder ⚠
• p.Gln137Ter Multiple submitters BBS10-related disorder
• p.Glu61fs Multiple submitters Bardet-Biedl syndrome
• p.His415fs Multiple submitters Bardet-Biedl syndrome 10
• p.Lys243fs Multiple submitters Bardet-Biedl syndrome
• p.Pro350fs Multiple submitters Bardet-Biedl syndrome
• p.Ser303fs Multiple submitters BBS10-related disorder
• p.Ser311Ala Multiple submitters inherited retinal dystrophy ⚠
• p.Ser464Ter Multiple submitters Bardet-Biedl syndrome 10
• p.Ser558_Tyr559insTer Multiple submitters inherited retinal dystrophy
• p.Thr534fs Multiple submitters Bardet-Biedl syndrome
• p.Tyr381Ter Multiple submitters Bardet-Biedl syndrome
• p.Tyr455Ter Multiple submitters Bardet-Biedl syndrome
• p.Tyr469Ter Multiple submitters Bardet-Biedl syndrome
• p.Tyr652Ter Multiple submitters Bardet-Biedl syndrome
• p.Val230fs Multiple submitters BBS10-related disorder
• c.197+1G>A Single submitter Bardet-Biedl syndrome
• p.Ala13fs Single submitter Bardet-Biedl syndrome
• p.Ala176fs Single submitter Bardet-Biedl syndrome
• p.Ala6fs Single submitter BBS10-related disorder
• p.Arg103fs Single submitter Bardet-Biedl syndrome
• p.Arg422fs Single submitter Bardet-Biedl syndrome
• p.Asn431fs Single submitter Bardet-Biedl syndrome
• p.Asp317_Leu318insTer Single submitter Bardet-Biedl syndrome
• p.Cys166fs Single submitter Bardet-Biedl syndrome
• p.Cys333Ter Single submitter Bardet-Biedl syndrome
• p.Cys360_Glu361delinsTer Single submitter Bardet-Biedl syndrome
• p.Gln131Ter Single submitter Bardet-Biedl syndrome
• p.Gln139Ter Single submitter Bardet-Biedl syndrome
• p.Gln147Ter Single submitter Bardet-Biedl syndrome
• p.Gln355fs Single submitter Bardet-Biedl syndrome
• p.Gln409fs Single submitter Bardet-Biedl syndrome
• p.Gln470fs Single submitter Bardet-Biedl syndrome 10
• p.Gln518Ter Single submitter Bardet-Biedl syndrome
• p.Glu162fs Single submitter Bardet-Biedl syndrome
• p.Glu19Ter Single submitter Bardet-Biedl syndrome 10
• p.Glu212Ter Single submitter Bardet-Biedl syndrome 10
• p.Glu262fs Single submitter Bardet-Biedl syndrome 10
• p.Gly238fs Single submitter Bardet-Biedl syndrome
• p.Gly52fs Single submitter Bardet-Biedl syndrome
• p.Gly650fs Single submitter Bardet-Biedl syndrome
• p.His152fs Single submitter Bardet-Biedl syndrome
• p.His300fs Single submitter Bardet-Biedl syndrome
• p.Ile156fs Single submitter Bardet-Biedl syndrome
• p.Ile447fs Single submitter Bardet-Biedl syndrome
• p.Leu193Ser Single submitter Bardet-Biedl syndrome
• p.Leu2Ter Single submitter Bardet-Biedl syndrome
• p.Leu424fs Single submitter Bardet-Biedl syndrome
• p.Leu540Ter Single submitter Bardet-Biedl syndrome
• p.Lys105fs Single submitter Bardet-Biedl syndrome
• p.Lys161fs Single submitter Bardet-Biedl syndrome
• p.Lys200Ter Single submitter Bardet-Biedl syndrome
• p.Lys295Ter Single submitter Bardet-Biedl syndrome
• p.Lys579fs Single submitter Bardet-Biedl syndrome
• p.Lys619fs Single submitter BBS10-related disorder
• p.Met682fs Single submitter Bardet-Biedl syndrome
• p.Phe86fs Single submitter Bardet-Biedl syndrome
• p.Pro468fs Single submitter Bardet-Biedl syndrome
• p.Pro505fs Single submitter Bardet-Biedl syndrome
• p.Ser10fs Single submitter Bardet-Biedl syndrome
• p.Ser150fs Single submitter Bardet-Biedl syndrome
• p.Ser231Ter Single submitter Bardet-Biedl syndrome
• p.Ser311fs Single submitter Bardet-Biedl syndrome 10
• p.Ser358fs Single submitter Bardet-Biedl syndrome
• p.Ser396fs Single submitter Bardet-Biedl syndrome
• p.Ser444fs Single submitter Bardet-Biedl syndrome
• p.Thr164fs Single submitter Bardet-Biedl syndrome
• p.Thr485fs Single submitter Bardet-Biedl syndrome
• p.Thr510fs Single submitter Bardet-Biedl syndrome
• p.Thr512fs Single submitter Bardet-Biedl syndrome
• p.Thr516fs Single submitter Bardet-Biedl syndrome
• p.Thr568fs Single submitter Bardet-Biedl syndrome
• p.Thr649fs Single submitter Bardet-Biedl syndrome 10
• p.Tyr197fs Single submitter Bardet-Biedl syndrome
• p.Tyr381fs Single submitter Bardet-Biedl syndrome
• p.Tyr589Ter Single submitter Bardet-Biedl syndrome
• p.Tyr612fs Single submitter Bardet-Biedl syndrome
• p.Tyr613Ter Single submitter Bardet-Biedl syndrome
• p.Tyr658fs Single submitter Bardet-Biedl syndrome
• p.Val214_Asp215insTer Single submitter Bardet-Biedl syndrome
• p.Val339Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Val398fs Single submitter Bardet-Biedl syndrome 10
• p.Val599fs Single submitter Bardet-Biedl syndrome
• p.Arg66Ser No assertion criteria Bardet-Biedl syndrome ⚠

Pathogenic/Likely pathogenic 57

• c.197+1G>T Multiple submitters Bardet-Biedl syndrome
• p.Arg163fs Multiple submitters Bardet-Biedl syndrome
• p.Arg380fs Multiple submitters Bardet-Biedl syndrome 10
• p.Arg467fs Multiple submitters Bardet-Biedl syndrome 10
• p.Arg49Trp Multiple submitters BBS10-related disorder ⚠
• p.Asn122fs Multiple submitters Bardet-Biedl syndrome 10
• p.Asn605fs Multiple submitters Bardet-Biedl syndrome
• p.Asn605Ter Multiple submitters Bardet-Biedl syndrome
• p.Asp102fs Multiple submitters Bardet-Biedl syndrome
• p.Asp216fs Multiple submitters Bardet-Biedl syndrome
• p.Asp412fs Multiple submitters Bardet-Biedl syndrome
• p.Asp515fs Multiple submitters Bardet-Biedl syndrome
• p.Cys28Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln114fs Multiple submitters Bardet-Biedl syndrome
• p.Gln131fs Multiple submitters Bardet-Biedl syndrome 10
• p.Gln192Ter Multiple submitters BBS10-related disorder
• p.Gln242fs Multiple submitters Bardet-Biedl syndrome 10
• p.Gln265Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln284Ter Multiple submitters BBS10-related disorder
• p.Gln439fs Multiple submitters Bardet-Biedl syndrome 10
• p.Gln484fs Multiple submitters Bardet-Biedl syndrome
• p.Glu104fs Multiple submitters Bardet-Biedl syndrome
• p.Glu499Ter Multiple submitters BBS10-related disorder
• p.Gly552Ter Multiple submitters Bardet-Biedl syndrome
• p.Gly677fs Multiple submitters Bardet-Biedl syndrome
• p.His395Arg Multiple submitters BBS10-related disorder ⚠
• p.His395fs Multiple submitters Bardet-Biedl syndrome
• p.Ile190fs Multiple submitters Bardet-Biedl syndrome 10
• p.Ile342fs Multiple submitters BBS10-related disorder
• p.Ile504fs Multiple submitters Bardet-Biedl syndrome
• p.Leu308Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu414Ser Multiple submitters BBS10-related disorder
• p.Leu55Pro Multiple submitters Bardet-Biedl syndrome 10
• p.Lys40Ter Multiple submitters BBS10-related disorder
• p.Lys542fs Multiple submitters Bardet-Biedl syndrome
• p.Lys684fs Multiple submitters Bardet-Biedl syndrome
• p.Met631fs Multiple submitters Bardet-Biedl syndrome
• p.Pro575fs Multiple submitters Bardet-Biedl syndrome
• p.Pro655fs Multiple submitters Bardet-Biedl syndrome 10
• p.Ser158Ter Multiple submitters Bardet-Biedl syndrome 10
• p.Ser269fs Multiple submitters Bardet-Biedl syndrome
• p.Ser320fs Multiple submitters Bardet-Biedl syndrome
• p.Ser3fs Multiple submitters Bardet-Biedl syndrome
• p.Ser4fs Multiple submitters Bardet-Biedl syndrome
• p.Ser624Ter Multiple submitters Bardet-Biedl syndrome
• p.Thr483fs Multiple submitters Bardet-Biedl syndrome
• p.Thr519fs Multiple submitters Bardet-Biedl syndrome 10
• p.Thr706_Val707insTer Multiple submitters Bardet-Biedl syndrome 10
• p.Thr79fs Multiple submitters Bardet-Biedl syndrome
• p.Thr85fs Multiple submitters Bardet-Biedl syndrome 10
• p.Trp120Ter Multiple submitters Bardet-Biedl syndrome 10
• p.Tyr177Ter Multiple submitters Bardet-Biedl syndrome
• p.Tyr197Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr197del Multiple submitters Bardet-Biedl syndrome
• p.Tyr321Ter Multiple submitters Bardet-Biedl syndrome
• p.Tyr448fs Multiple submitters Bardet-Biedl syndrome
• p.Tyr559Ter Multiple submitters BBS10-related disorder

Likely pathogenic 96

• p.Arg49Leu Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Cys621fs Multiple submitters Bardet-Biedl syndrome 10
• p.Gln287fs Multiple submitters BBS10-related disorder
• p.Gln355Ter Multiple submitters Bardet-Biedl syndrome 10
• p.Glu162Ter Multiple submitters Bardet-Biedl syndrome 10
• p.Gly401Glu Multiple submitters Bardet-Biedl syndrome
• p.Ile557fs Multiple submitters Bardet-Biedl syndrome 10
• p.Leu334Ter Multiple submitters BBS10-related disorder
• p.Leu58fs Multiple submitters Bardet-Biedl syndrome 10
• p.Lys713fs Multiple submitters Bardet-Biedl syndrome 10
• p.Pro229Leu Multiple submitters inherited retinal dystrophy ⚠
• c.198-1G>C Single submitter Bardet-Biedl syndrome 10
• c.198-2A>C Single submitter Early onset severe obesity
• p.Ala323Val Single submitter Bardet-Biedl syndrome
• p.Ala65fs Single submitter Bardet-Biedl syndrome 10
• p.Ala8fs Single submitter Bardet-Biedl syndrome 10
• p.Arg184fs Single submitter Bardet-Biedl syndrome 10
• p.Arg34Pro Single submitter Bardet-Biedl syndrome 10
• p.Arg66Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg709fs Single submitter Bardet-Biedl syndrome 10
• p.Cys110_Glu111delinsTer Single submitter Bardet-Biedl syndrome 10
• p.Cys201fs Single submitter Bardet-Biedl syndrome 10
• p.Cys201Tyr Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Gln282fs Single submitter Bardet-Biedl syndrome 10
• p.Gln287Ter Single submitter Bardet-Biedl syndrome 10
• p.Gln315Ter Single submitter Bardet-Biedl syndrome 1
• p.Gln35Ter Single submitter Bardet-Biedl syndrome 10
• p.Gln423fs Single submitter Bardet-Biedl syndrome 10
• p.Gln686Ter Single submitter BBS10-related disorder
• p.Glu337Ter Single submitter Bardet-Biedl syndrome 10
• p.Glu61Ter Single submitter BBS10-related disorder
• p.Gly552fs Single submitter Bardet-Biedl syndrome 10
• p.Gly603fs Single submitter Bardet-Biedl syndrome 10
• p.His187del Single submitter BBS10-related disorder
• p.His59fs Single submitter Bardet-Biedl syndrome 10
• p.His62Arg Single submitter Bardet-Biedl syndrome 10
• p.His62Tyr Single submitter Bardet-Biedl syndrome 10 ⚠
• p.His656fs Single submitter BBS10-related disorder
• p.Ile113fs Single submitter Bardet-Biedl syndrome 10
• p.Ile190Thr Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ile208_Gly209insTer Single submitter Bardet-Biedl syndrome 10
• p.Ile264fs Single submitter BBS10-related disorder
• p.Ile375fs Single submitter Bardet-Biedl syndrome 10
• p.Ile555fs Single submitter Bardet-Biedl syndrome 10
• p.Leu108fs Single submitter Bardet-Biedl syndrome 10
• p.Leu134fs Single submitter Bardet-Biedl syndrome 10
• p.Leu154fs Single submitter Bardet-Biedl syndrome 10
• p.Leu174Ter Single submitter Bardet-Biedl syndrome 10
• p.Leu267fs Single submitter Bardet-Biedl syndrome 10
• p.Leu308Ser Single submitter Bardet-Biedl syndrome 10
• p.Leu590fs Single submitter Bardet-Biedl syndrome 10
• p.Leu60Ter Single submitter Bardet-Biedl syndrome
• p.Lys293Ter Single submitter Bardet-Biedl syndrome 10
• p.Met1Ile Single submitter Bardet-Biedl syndrome 10
• p.Phe275fs Single submitter Bardet-Biedl syndrome 10
• p.Ser273Ter Single submitter Bardet-Biedl syndrome 10
• p.Ser311Phe Single submitter Bardet-Biedl syndrome
• p.Ser443Ter Single submitter BBS10-related disorder
• p.Ser549Ter Single submitter Bardet-Biedl syndrome 10
• p.Ser592Ter Single submitter Bardet-Biedl syndrome 10
• p.Ser630fs Single submitter Bardet-Biedl syndrome 10
• p.Ser690Ter Single submitter BBS10-related disorder
• p.Ser73fs Single submitter Bardet-Biedl syndrome 10
• p.Thr270fs Single submitter Bardet-Biedl syndrome 10
• p.Thr294fs Single submitter BBS10-related disorder
• p.Thr676fs Single submitter Bardet-Biedl syndrome 10
• p.Trp289fs Single submitter Bardet-Biedl syndrome 10
• p.Tyr177Cys Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Tyr486fs Single submitter Bardet-Biedl syndrome 10
• p.Tyr536fs Single submitter Bardet-Biedl syndrome 10
• p.Tyr559fs Single submitter Bardet-Biedl syndrome 10
• p.Val214fs Single submitter Bardet-Biedl syndrome 10
• p.Val214Glu Single submitter Bardet-Biedl syndrome 10
• p.Val319fs Single submitter Bardet-Biedl syndrome 10
• p.Val602Leu Single submitter Inborn genetic diseases
• p.Val72fs Single submitter Bardet-Biedl syndrome 10
• p.Asp497fs No assertion criteria Bardet-Biedl syndrome 10
• p.Cys179Ter No assertion criteria Bardet-Biedl syndrome 10
• p.Gln563Ter No assertion criteria Bardet-Biedl syndrome 10
• p.Gln693Ter No assertion criteria Bardet-Biedl syndrome 10
• p.Glu338fs No assertion criteria Bardet-Biedl syndrome 10
• p.Glu44Ter No assertion criteria Bardet-Biedl syndrome 10
• p.His383fs No assertion criteria Bardet-Biedl syndrome 10
• p.Ile100fs No assertion criteria Bardet-Biedl syndrome 10
• p.Ile397fs No assertion criteria Bardet-Biedl syndrome 10
• p.Leu610Ter No assertion criteria Bardet-Biedl syndrome 10
• p.Lys121Ter No assertion criteria Bardet-Biedl syndrome 10
• p.Lys651fs No assertion criteria Bardet-Biedl syndrome 10
• p.Phe178fs No assertion criteria Bardet-Biedl syndrome 10
• p.Phe446fs No assertion criteria Bardet-Biedl syndrome 10
• p.Pro107fs No assertion criteria Bardet-Biedl syndrome 10
• p.Pro353fs No assertion criteria Bardet-Biedl syndrome 10
• p.Ser336Ter No assertion criteria Bardet-Biedl syndrome 10
• p.Thr514fs No assertion criteria Bardet-Biedl syndrome 10
• p.Trp126Ter No assertion criteria Bardet-Biedl syndrome 10
• p.Val225_Thr226insGlyVal No assertion criteria BBS10-related disorder

Conflicting classifications of pathogenicity 50

• c.198-10T>C Single submitter Bardet-Biedl syndrome 10
• p.Ala296Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala417Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala417Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ala479Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Ala664= Single submitter Bardet-Biedl syndrome
• p.Arg125= Single submitter Bardet-Biedl syndrome
• p.Arg249Cys Single submitter Inborn genetic diseases ⚠
• p.Arg249fs Single submitter Bardet-Biedl syndrome
• p.Arg343Gln Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Arg422Gln Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Arg530Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn543Ser Single submitter Inborn genetic diseases ⚠
• p.Asp471Val Single submitter Bardet-Biedl syndrome ⚠
• p.Gln131= Single submitter Bardet-Biedl syndrome
• p.Gln147Arg Single submitter BBS10-related ciliopathy ⚠
• p.Gln359Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Glu338del Single submitter Bardet-Biedl syndrome 10
• p.Gly180Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gly272= Single submitter Bardet-Biedl syndrome
• p.His300Pro Single submitter Bardet-Biedl syndrome 10 ⚠
• p.His410Gln Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ile342Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile397Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ile659Leu Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu149fs Single submitter Bardet-Biedl syndrome 10
• p.Leu154= Single submitter Bardet-Biedl syndrome 10
• p.Leu386= Single submitter Bardet-Biedl syndrome 10
• p.Leu445Ile Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu76Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Lys161= Single submitter Bardet-Biedl syndrome
• p.Lys426Glu Single submitter Inborn genetic diseases ⚠
• p.Lys579Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Lys642Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Met109Ile Single submitter Inborn genetic diseases ⚠
• p.Met1fs Single submitter Bardet-Biedl syndrome
• p.Met255Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Pro229Arg Single submitter Bardet-Biedl syndrome 10
• p.Pro539Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ser124= Single submitter Bardet-Biedl syndrome
• p.Ser3_Met5delinsArg Single submitter Bardet-Biedl syndrome 10
• p.Ser388= Single submitter Bardet-Biedl syndrome 10
• p.Ser527Pro Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Tyr321Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr613Cys Single submitter BBS10-related disorder ⚠
• p.Tyr613His Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Tyr658= Single submitter Bardet-Biedl syndrome 10
• p.Val331Ala Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Val69Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Val11Gly No assertion criteria Bardet-Biedl syndrome 10 ⚠

Benign 11

• c.-52C>T Multiple submitters Bardet-Biedl syndrome 10
• c.*1051C>T Multiple submitters Bardet-Biedl syndrome 10
• c.*498A>G Multiple submitters Bardet-Biedl syndrome 10
• c.*769G>C Multiple submitters Bardet-Biedl syndrome 10
• c.*805T>C Multiple submitters Bardet-Biedl syndrome 10
• c.*87A>C Multiple submitters Bardet-Biedl syndrome 10
• p.Asp515= Multiple submitters Bardet-Biedl syndrome
• c.198-162G>A Single submitter
• c.198-7del Single submitter Bardet-Biedl syndrome
• c.*1248A>G Single submitter Bardet-Biedl syndrome 10
• c.*632T>C Single submitter Bardet-Biedl syndrome 10

Benign/Likely benign 6

• c.198-12dup Multiple submitters Bardet-Biedl syndrome
• p.Asn544Ser Multiple submitters Bardet-Biedl syndrome
• p.Asp142Asn Multiple submitters Bardet-Biedl syndrome
• p.His415= Multiple submitters Bardet-Biedl syndrome
• p.Ile557Val Multiple submitters Bardet-Biedl syndrome
• p.Tyr322= Multiple submitters Bardet-Biedl syndrome

Likely benign 272

• c.197+13C>G Multiple submitters Bardet-Biedl syndrome
• c.198-17_198-14del Multiple submitters Bardet-Biedl syndrome
• c.198-19T>A Multiple submitters Bardet-Biedl syndrome
• p.Ala14= Multiple submitters Bardet-Biedl syndrome
• p.Ala479= Multiple submitters Bardet-Biedl syndrome
• p.Arg34= Multiple submitters Bardet-Biedl syndrome 10
• p.Asn543= Multiple submitters Bardet-Biedl syndrome
• p.Asp216= Multiple submitters Bardet-Biedl syndrome
• p.Asp429= Multiple submitters Bardet-Biedl syndrome 10
• p.Gln287= Multiple submitters Bardet-Biedl syndrome
• p.Gly143= Multiple submitters Bardet-Biedl syndrome
• p.Gly405= Multiple submitters Bardet-Biedl syndrome
• p.Gly9= Multiple submitters Bardet-Biedl syndrome
• p.Leu134= Multiple submitters Bardet-Biedl syndrome
• p.Leu149= Multiple submitters Bardet-Biedl syndrome
• p.Leu2= Multiple submitters Bardet-Biedl syndrome
• p.Leu21= Multiple submitters Bardet-Biedl syndrome
• p.Leu213= Multiple submitters Bardet-Biedl syndrome 10
• p.Leu221= Multiple submitters Bardet-Biedl syndrome
• p.Leu55= Multiple submitters Bardet-Biedl syndrome
• p.Lys293= Multiple submitters Bardet-Biedl syndrome
• p.Pro350= Multiple submitters Bardet-Biedl syndrome
• p.Pro505= Multiple submitters Bardet-Biedl syndrome
• p.Pro581= Multiple submitters Bardet-Biedl syndrome
• p.Pro641= Multiple submitters Bardet-Biedl syndrome
• p.Ser158= Multiple submitters Bardet-Biedl syndrome
• p.Ser358= Multiple submitters Bardet-Biedl syndrome
• p.Ser396= Multiple submitters Bardet-Biedl syndrome
• p.Thr203Ala Multiple submitters Inborn genetic diseases
• p.Thr261= Multiple submitters Bardet-Biedl syndrome
• p.Thr79= Multiple submitters Bardet-Biedl syndrome
• p.Tyr559= Multiple submitters Bardet-Biedl syndrome
• p.Tyr652= Multiple submitters Bardet-Biedl syndrome
• p.Tyr685= Multiple submitters Bardet-Biedl syndrome
• p.Val319= Multiple submitters Bardet-Biedl syndrome
• p.Val714= Multiple submitters Bardet-Biedl syndrome 10
• c.197+11C>A Single submitter Bardet-Biedl syndrome
• c.197+18G>A Single submitter Bardet-Biedl syndrome
• c.197+20T>A Single submitter Bardet-Biedl syndrome
• c.197+7G>T Single submitter Bardet-Biedl syndrome
• c.198-12T>G Single submitter Bardet-Biedl syndrome
• c.198-15T>C Single submitter Bardet-Biedl syndrome
• c.198-17A>C Single submitter Bardet-Biedl syndrome
• c.198-17A>G Single submitter Bardet-Biedl syndrome
• c.198-18T>G Single submitter Bardet-Biedl syndrome
• c.198-19T>G Single submitter Bardet-Biedl syndrome
• c.198-4A>G Single submitter Bardet-Biedl syndrome
• c.198-6G>A Single submitter Bardet-Biedl syndrome
• c.198-7T>C Single submitter Bardet-Biedl syndrome
• c.198-8T>C Single submitter Bardet-Biedl syndrome
• c.198-9T>G Single submitter Bardet-Biedl syndrome
• c.-2A>C Single submitter
• p.Ala18= Single submitter Bardet-Biedl syndrome
• p.Ala23= Single submitter Bardet-Biedl syndrome
• p.Ala237= Single submitter Bardet-Biedl syndrome
• p.Ala251= Single submitter Bardet-Biedl syndrome
• p.Ala281= Single submitter Bardet-Biedl syndrome
• p.Ala323= Single submitter Bardet-Biedl syndrome
• p.Ala391= Single submitter Bardet-Biedl syndrome
• p.Ala547= Single submitter Bardet-Biedl syndrome
• p.Ala57= Single submitter Bardet-Biedl syndrome
• p.Ala596= Single submitter Bardet-Biedl syndrome
• p.Ala618= Single submitter Bardet-Biedl syndrome
• p.Arg103= Single submitter Bardet-Biedl syndrome
• p.Arg234= Single submitter Bardet-Biedl syndrome
• p.Arg467= Single submitter Bardet-Biedl syndrome
• p.Arg49= Single submitter Bardet-Biedl syndrome
• p.Arg66= Single submitter Bardet-Biedl syndrome
• p.Arg660= Single submitter Bardet-Biedl syndrome
• p.Asn112= Single submitter Bardet-Biedl syndrome
• p.Asn364= Single submitter Bardet-Biedl syndrome
• p.Asn431= Single submitter Bardet-Biedl syndrome
• p.Asn440= Single submitter Bardet-Biedl syndrome
• p.Asn476= Single submitter
• p.Asn531= Single submitter Bardet-Biedl syndrome
• p.Asn561= Single submitter Bardet-Biedl syndrome
• p.Asn566= Single submitter Bardet-Biedl syndrome
• p.Asn668= Single submitter Bardet-Biedl syndrome
• p.Asp142= Single submitter Bardet-Biedl syndrome
• p.Asp252= Single submitter Bardet-Biedl syndrome
• p.Asp254= Single submitter Bardet-Biedl syndrome
• p.Asp317= Single submitter Bardet-Biedl syndrome
• p.Asp412= Single submitter Bardet-Biedl syndrome
• p.Asp438= Single submitter Bardet-Biedl syndrome
• p.Asp535= Single submitter Bardet-Biedl syndrome
• p.Asp70= Single submitter Bardet-Biedl syndrome
• p.Asp702= Single submitter Bardet-Biedl syndrome
• p.Cys333= Single submitter Bardet-Biedl syndrome
• p.Cys390= Single submitter Bardet-Biedl syndrome
• p.Cys91= Single submitter Bardet-Biedl syndrome
• p.Gln304= Single submitter Bardet-Biedl syndrome
• p.Gln315= Single submitter Bardet-Biedl syndrome
• p.Gln35= Single submitter Bardet-Biedl syndrome
• p.Gln359= Single submitter Bardet-Biedl syndrome
• p.Gln423= Single submitter Bardet-Biedl syndrome
• p.Gln439= Single submitter Bardet-Biedl syndrome
• p.Gln623= Single submitter Bardet-Biedl syndrome
• p.Gln669= Single submitter
• p.Glu171= Single submitter Bardet-Biedl syndrome
• p.Glu280= Single submitter Bardet-Biedl syndrome
• p.Glu292= Single submitter Bardet-Biedl syndrome
• p.Glu332= Single submitter Bardet-Biedl syndrome
• p.Glu338= Single submitter Bardet-Biedl syndrome
• p.Glu408= Single submitter Bardet-Biedl syndrome
• p.Glu44= Single submitter
• p.Glu481= Single submitter Bardet-Biedl syndrome
• p.Glu56= Single submitter Bardet-Biedl syndrome
• p.Glu722= Single submitter Bardet-Biedl syndrome
• p.Gly207= Single submitter Bardet-Biedl syndrome
• p.Gly209= Single submitter Bardet-Biedl syndrome
• p.Gly224= Single submitter Bardet-Biedl syndrome
• p.Gly227= Single submitter Bardet-Biedl syndrome
• p.Gly347= Single submitter Bardet-Biedl syndrome
• p.Gly416= Single submitter Bardet-Biedl syndrome
• p.Gly43= Single submitter Bardet-Biedl syndrome
• p.Gly461= Single submitter Bardet-Biedl syndrome
• p.Gly52= Single submitter Bardet-Biedl syndrome
• p.Gly552= Single submitter Bardet-Biedl syndrome
• p.Gly603= Single submitter Bardet-Biedl syndrome
• p.Gly604= Single submitter Bardet-Biedl syndrome
• p.Gly639= Single submitter Bardet-Biedl syndrome
• p.Gly650= Single submitter Bardet-Biedl syndrome
• p.Gly677= Single submitter Bardet-Biedl syndrome
• p.Gly683= Single submitter Bardet-Biedl syndrome
• p.Gly82= Single submitter Bardet-Biedl syndrome
• p.Gly96= Single submitter Bardet-Biedl syndrome
• p.His119= Single submitter Bardet-Biedl syndrome
• p.His383= Single submitter Bardet-Biedl syndrome
• p.His395= Single submitter Bardet-Biedl syndrome
• p.His622= Single submitter Bardet-Biedl syndrome
• p.His663= Single submitter Bardet-Biedl syndrome
• p.His710= Single submitter Bardet-Biedl syndrome
• p.Ile100Val Single submitter Inborn genetic diseases
• p.Ile24= Single submitter Bardet-Biedl syndrome
• p.Ile342= Single submitter Bardet-Biedl syndrome
• p.Ile345= Single submitter Bardet-Biedl syndrome
• p.Ile346= Single submitter Bardet-Biedl syndrome
• p.Ile375= Single submitter Bardet-Biedl syndrome
• p.Ile465= Single submitter Bardet-Biedl syndrome
• p.Ile608= Single submitter Bardet-Biedl syndrome
• p.Ile633= Single submitter Bardet-Biedl syndrome
• p.Ile701= Single submitter Bardet-Biedl syndrome
• p.Ile88= Single submitter Bardet-Biedl syndrome
• p.Leu141= Single submitter Bardet-Biedl syndrome
• p.Leu15= Single submitter Bardet-Biedl syndrome
• p.Leu170= Single submitter Bardet-Biedl syndrome
• p.Leu174= Single submitter Bardet-Biedl syndrome
• p.Leu193= Single submitter Bardet-Biedl syndrome
• p.Leu228= Single submitter Bardet-Biedl syndrome
• p.Leu267= Single submitter Bardet-Biedl syndrome
• p.Leu301= Single submitter Bardet-Biedl syndrome
• p.Leu309= Single submitter Bardet-Biedl syndrome
• p.Leu334= Single submitter Bardet-Biedl syndrome
• p.Leu367= Single submitter Bardet-Biedl syndrome
• p.Leu399= Single submitter Bardet-Biedl syndrome
• p.Leu406= Single submitter Bardet-Biedl syndrome
• p.Leu418= Single submitter Bardet-Biedl syndrome
• p.Leu428= Single submitter Bardet-Biedl syndrome
• p.Leu46= Single submitter Bardet-Biedl syndrome
• p.Leu480= Single submitter Bardet-Biedl syndrome
• p.Leu493= Single submitter Bardet-Biedl syndrome
• p.Leu511= Single submitter Bardet-Biedl syndrome
• p.Leu528= Single submitter Bardet-Biedl syndrome
• p.Leu533= Single submitter Bardet-Biedl syndrome
• p.Leu54= Single submitter Bardet-Biedl syndrome
• p.Leu540= Single submitter Bardet-Biedl syndrome
• p.Leu541= Single submitter Bardet-Biedl syndrome
• p.Leu562= Single submitter Bardet-Biedl syndrome
• p.Leu58= Single submitter Bardet-Biedl syndrome
• p.Leu580= Single submitter Bardet-Biedl syndrome
• p.Leu60= Single submitter Bardet-Biedl syndrome
• p.Leu609= Single submitter Bardet-Biedl syndrome
• p.Leu610= Single submitter Bardet-Biedl syndrome
• p.Leu638= Single submitter Bardet-Biedl syndrome
• p.Leu687= Single submitter Bardet-Biedl syndrome
• p.Leu688= Single submitter Bardet-Biedl syndrome
• p.Leu695= Single submitter Bardet-Biedl syndrome
• p.Leu699= Single submitter Bardet-Biedl syndrome
• p.Leu723= Single submitter Bardet-Biedl syndrome
• p.Leu90= Single submitter Bardet-Biedl syndrome
• p.Lys105= Single submitter Bardet-Biedl syndrome
• p.Lys12= Single submitter Bardet-Biedl syndrome
• p.Lys127= Single submitter Bardet-Biedl syndrome
• p.Lys188= Single submitter Bardet-Biedl syndrome
• p.Lys200= Single submitter Bardet-Biedl syndrome
• p.Lys314= Single submitter Bardet-Biedl syndrome
• p.Lys372= Single submitter Bardet-Biedl syndrome
• p.Lys419= Single submitter Bardet-Biedl syndrome
• p.Lys426= Single submitter Bardet-Biedl syndrome
• p.Lys648= Single submitter Bardet-Biedl syndrome
• p.Lys651= Single submitter Bardet-Biedl syndrome
• p.Lys713= Single submitter Bardet-Biedl syndrome
• p.Lys84= Single submitter Bardet-Biedl syndrome
• p.Phe178= Single submitter Bardet-Biedl syndrome
• p.Phe199= Single submitter Bardet-Biedl syndrome
• p.Phe268= Single submitter Bardet-Biedl syndrome
• p.Phe446= Single submitter Bardet-Biedl syndrome
• p.Pro229= Single submitter Bardet-Biedl syndrome
• p.Pro250= Single submitter Bardet-Biedl syndrome
• p.Pro31= Single submitter Bardet-Biedl syndrome
• p.Pro353= Single submitter Bardet-Biedl syndrome
• p.Pro458= Single submitter Bardet-Biedl syndrome
• p.Pro509= Single submitter Bardet-Biedl syndrome
• p.Pro539= Single submitter Bardet-Biedl syndrome
• p.Pro575= Single submitter Bardet-Biedl syndrome
• p.Pro670= Single submitter Bardet-Biedl syndrome
• p.Ser130= Single submitter Bardet-Biedl syndrome
• p.Ser150= Single submitter Bardet-Biedl syndrome
• p.Ser159= Single submitter Bardet-Biedl syndrome
• p.Ser246= Single submitter Bardet-Biedl syndrome
• p.Ser271= Single submitter Bardet-Biedl syndrome
• p.Ser279= Single submitter Bardet-Biedl syndrome
• p.Ser311= Single submitter Bardet-Biedl syndrome
• p.Ser312= Single submitter Bardet-Biedl syndrome
• p.Ser335= Single submitter Bardet-Biedl syndrome
• p.Ser378= Single submitter Bardet-Biedl syndrome
• p.Ser4= Single submitter Bardet-Biedl syndrome
• p.Ser443= Single submitter Bardet-Biedl syndrome
• p.Ser464= Single submitter Bardet-Biedl syndrome
• p.Ser48= Single submitter Bardet-Biedl syndrome
• p.Ser558= Single submitter
• p.Ser572= Single submitter Bardet-Biedl syndrome
• p.Ser591= Single submitter Bardet-Biedl syndrome
• p.Ser592= Single submitter Bardet-Biedl syndrome
• p.Ser647= Single submitter Bardet-Biedl syndrome
• p.Ser653= Single submitter Bardet-Biedl syndrome
• p.Ser680= Single submitter Bardet-Biedl syndrome
• p.Ser690= Single submitter Bardet-Biedl syndrome
• p.Thr138= Single submitter Bardet-Biedl syndrome
• p.Thr285= Single submitter Bardet-Biedl syndrome
• p.Thr365= Single submitter Bardet-Biedl syndrome
• p.Thr389= Single submitter Bardet-Biedl syndrome
• p.Thr42= Single submitter Bardet-Biedl syndrome
• p.Thr436= Single submitter Bardet-Biedl syndrome
• p.Thr472= Single submitter Bardet-Biedl syndrome
• p.Thr485= Single submitter Bardet-Biedl syndrome
• p.Thr502= Single submitter Bardet-Biedl syndrome
• p.Thr514= Single submitter Bardet-Biedl syndrome
• p.Thr516= Single submitter Bardet-Biedl syndrome
• p.Thr519= Single submitter Bardet-Biedl syndrome
• p.Thr522= Single submitter Bardet-Biedl syndrome
• p.Thr524= Single submitter Bardet-Biedl syndrome
• p.Thr534= Single submitter Bardet-Biedl syndrome
• p.Thr565= Single submitter Bardet-Biedl syndrome
• p.Thr568= Single submitter Bardet-Biedl syndrome
• p.Thr627= Single submitter
• p.Thr649= Single submitter Bardet-Biedl syndrome
• p.Thr657= Single submitter Bardet-Biedl syndrome
• p.Tyr321= Single submitter Bardet-Biedl syndrome
• p.Tyr381= Single submitter Bardet-Biedl syndrome
• p.Tyr432= Single submitter Bardet-Biedl syndrome
• p.Tyr455= Single submitter Bardet-Biedl syndrome
• p.Tyr503= Single submitter Bardet-Biedl syndrome
• p.Tyr548= Single submitter Bardet-Biedl syndrome
• p.Tyr617= Single submitter Bardet-Biedl syndrome
• p.Val20= Single submitter Bardet-Biedl syndrome
• p.Val210= Single submitter Bardet-Biedl syndrome
• p.Val325= Single submitter Bardet-Biedl syndrome
• p.Val382= Single submitter Bardet-Biedl syndrome
• p.Val45= Single submitter Bardet-Biedl syndrome
• p.Val498= Single submitter Bardet-Biedl syndrome
• p.Val602= Single submitter Bardet-Biedl syndrome
• p.Val643= Single submitter Bardet-Biedl syndrome
• c.-5C>T No assertion criteria BBS10-related disorder
• c.-6C>T No assertion criteria BBS10-related disorder
• c.-8G>T No assertion criteria BBS10-related disorder
• c.*8del No assertion criteria BBS10-related disorder
• p.Gln282= No assertion criteria BBS10-related disorder
• p.Gly327= No assertion criteria BBS10-related disorder
• p.Leu94= No assertion criteria BBS10-related disorder
• p.Ser286= No assertion criteria BBS10-related disorder
• p.Thr434= No assertion criteria BBS10-related disorder

Uncertain significance 440

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

• c.197+5C>T Multiple submitters Bardet-Biedl syndrome 10
• c.198-3C>T Multiple submitters Inborn genetic diseases
• c.*106C>T Multiple submitters Bardet-Biedl syndrome 10
• p.Ala251Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala547Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg167Ser Multiple submitters Bardet-Biedl syndrome
• p.Arg181Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg234Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg256Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg343Trp Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Arg344Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg422Trp Multiple submitters BBS10-related disorder ⚠
• p.Arg532Lys Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Arg660Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn476Ser Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Asn566Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn566His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn668Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asp106Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp216Ala Multiple submitters Inborn genetic diseases ⚠
• p.Asp497Val Multiple submitters Inborn genetic diseases ⚠
• p.Cys195Gly Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Gln137His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu19Gln Multiple submitters Inborn genetic diseases ⚠
• p.Glu337Ser Multiple submitters Bardet-Biedl syndrome 10
• p.Glu481Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu560Lys Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Gly272Ala Multiple submitters Inborn genetic diseases ⚠
• p.Gly385Asp Multiple submitters Inborn genetic diseases
• p.Gly416Glu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly461Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly603Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly639Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.His187Asn Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.His302Tyr Multiple submitters Bardet-Biedl syndrome ⚠
• p.His395Asp Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Ile264Ser Multiple submitters Inborn genetic diseases
• p.Ile345Thr Multiple submitters Bardet-Biedl syndrome
• p.Ile346Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile407Thr Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Ile447Val Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Ile567Thr Multiple submitters BBS10-related disorder ⚠
• p.Ile632Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile88Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu133Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu301Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu386Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu480Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu562Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu590Arg Multiple submitters Inborn genetic diseases ⚠
• p.Leu699Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys127Arg Multiple submitters Inborn genetic diseases ⚠
• p.Lys161Glu Multiple submitters Inborn genetic diseases ⚠
• p.Lys188Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys488Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys619Arg Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Met1Thr Multiple submitters Bardet-Biedl syndrome
• p.Met1Val Multiple submitters Bardet-Biedl syndrome
• p.Met594Val Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Met5Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met628Val Multiple submitters Inborn genetic diseases ⚠
• p.Met67Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Phe86Leu Multiple submitters ⚠
• p.Pro229Thr Multiple submitters Inborn genetic diseases
• p.Pro350Thr Multiple submitters Inborn genetic diseases ⚠
• p.Pro363Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro505Leu Multiple submitters BBS10-related disorder ⚠
• p.Pro509Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro581Leu Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Pro581Ser Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Pro63Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro63Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro655Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser130Phe Multiple submitters Bardet-Biedl syndrome
• p.Ser231Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser312Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser329Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser358Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ser454Gly Multiple submitters Inborn genetic diseases ⚠
• p.Thr135Met Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Thr164Pro Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Thr294Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr442Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr508Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr657Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr657Ile Multiple submitters BBS10-related disorder ⚠
• p.Thr689Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr79Ala Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Tyr506Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val20Ala Multiple submitters Inborn genetic diseases ⚠
• p.Val219Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val29Leu Multiple submitters Bardet-Biedl syndrome 10 ⚠
• p.Val319Leu Multiple submitters Bardet-Biedl syndrome 10
• p.Val382Phe Multiple submitters Bardet-Biedl syndrome
• p.Val398Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val473Ala Multiple submitters Bardet-Biedl syndrome 10 ⚠
• c.197+3A>G Single submitter
• c.197+4C>T Single submitter Bardet-Biedl syndrome 10
• c.-151T>C Single submitter Bardet-Biedl syndrome 10
• c.-48C>G Single submitter Bardet-Biedl syndrome 10
• c.-4A>G Single submitter Bardet-Biedl syndrome 10
• c.*1041G>T Single submitter Bardet-Biedl syndrome 10
• c.*1113G>C Single submitter Bardet-Biedl syndrome 10
• c.*1140A>G Single submitter Bardet-Biedl syndrome 10
• c.*1145A>C Single submitter Bardet-Biedl syndrome 10
• c.*1164A>G Single submitter Bardet-Biedl syndrome 10
• c.*1197A>G Single submitter Bardet-Biedl syndrome 10
• c.*119G>A Single submitter Bardet-Biedl syndrome 10
• c.*1204T>A Single submitter Bardet-Biedl syndrome 10
• c.*1250A>G Single submitter Bardet-Biedl syndrome 10
• c.*1275A>C Single submitter Bardet-Biedl syndrome 10
• c.*1325T>C Single submitter Bardet-Biedl syndrome 10
• c.*264A>T Single submitter Bardet-Biedl syndrome 10
• c.*48G>C Single submitter Bardet-Biedl syndrome 10
• c.*529C>T Single submitter Bardet-Biedl syndrome 10
• c.*734G>T Single submitter Bardet-Biedl syndrome 10
• c.*773T>C Single submitter Bardet-Biedl syndrome 10
• c.*891T>C Single submitter Bardet-Biedl syndrome 10
• c.*930A>G Single submitter Bardet-Biedl syndrome 10
• c.*947G>T Single submitter Bardet-Biedl syndrome 10
• c.*955T>C Single submitter Bardet-Biedl syndrome 10
• p.Ala237Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala251Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Ala323Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ala417Glu Single submitter Inborn genetic diseases ⚠
• p.Ala57Glu Single submitter Bardet-Biedl syndrome 10
• p.Ala634Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala636Thr Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ala636Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala8Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala8Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg125Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg234Ser Single submitter Bardet-Biedl syndrome 10
• p.Arg249Leu Single submitter Inborn genetic diseases ⚠
• p.Arg256Gln Single submitter ⚠
• p.Arg380= Single submitter BBS10-related disorder
• p.Arg380Ser Single submitter BBS10-related disorder ⚠
• p.Arg467Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg467Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg530Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg530Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg532Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg53Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Arg66Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg95Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Asn450Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn531Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn553Asp Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Asn668Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Asn668Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Asn716His Single submitter Bardet-Biedl syndrome ⚠
• p.Asp106Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Asp142Glu Single submitter
• p.Asp216Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Asp232Glu Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Asp244Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp412His Single submitter Bardet-Biedl syndrome ⚠
• p.Asp412Val Single submitter Bardet-Biedl syndrome ⚠
• p.Asp427Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp471Asn Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Asp497Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp535Val Single submitter Bardet-Biedl syndrome ⚠
• p.Asp70Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Cys110Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys123Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys28Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Cys371Arg Single submitter ⚠
• p.Cys371Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Cys390Tyr Single submitter ⚠
• p.Cys400Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Cys694Arg Single submitter ⚠
• p.Gln114Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gln139fs Single submitter Bardet-Biedl syndrome 10
• p.Gln139Pro Single submitter Bardet-Biedl syndrome 10
• p.Gln192Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Gln265Glu Single submitter Inborn genetic diseases ⚠
• p.Gln284Arg Single submitter Inborn genetic diseases ⚠
• p.Gln686Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Glu175del Single submitter Bardet-Biedl syndrome
• p.Glu220Ala Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Glu274Lys Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Glu32Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Glu337Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu338Gly Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Glu338Val Single submitter ⚠
• p.Glu361Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Glu411Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu501Gln Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Glu556Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu56Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Glu61Gln Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Gly117Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly117Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gly143Asp Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Gly209Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Gly224Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly224Asp Single submitter ⚠
• p.Gly33Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly401= Single submitter Bardet-Biedl syndrome 10
• p.Gly401Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly405Cys Single submitter Inborn genetic diseases
• p.Gly43Ala Single submitter Inborn genetic diseases ⚠
• p.Gly51Glu Single submitter ⚠
• p.Gly52Asp Single submitter Bardet-Biedl syndrome
• p.Gly597Asp Single submitter ⚠
• p.Gly597Val Single submitter Bardet-Biedl syndrome ⚠
• p.Gly604Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly683Asp Single submitter Bardet-Biedl syndrome
• p.Gly82Asp Single submitter ⚠
• p.Gly82Ser Single submitter Bardet-Biedl syndrome 10 ⚠
• p.His152Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His217Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His300del Single submitter Inborn genetic diseases
• p.His302Arg Single submitter Bardet-Biedl syndrome 10 ⚠
• p.His395Gln Single submitter Bardet-Biedl syndrome
• p.His404Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His410Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.His663Tyr Single submitter ⚠
• p.His715Arg Single submitter ⚠
• p.His715Pro Single submitter Bardet-Biedl syndrome ⚠
• p.His92Arg Single submitter Bardet-Biedl syndrome 10 ⚠
• p.His92Pro Single submitter
• p.His98Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Ile113Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile144Thr Single submitter ⚠
• p.Ile235Phe Single submitter Bardet-Biedl syndrome 10
• p.Ile236Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ile236Met Single submitter Bardet-Biedl syndrome ⚠
• p.Ile236Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ile310Met Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ile310Thr Single submitter Inborn genetic diseases ⚠
• p.Ile328Val Single submitter ⚠
• p.Ile342Met Single submitter ⚠
• p.Ile375Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Ile387Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile465Val Single submitter Inborn genetic diseases ⚠
• p.Ile495Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ile555Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile608Val Single submitter ⚠
• p.Ile632Thr Single submitter Inborn genetic diseases ⚠
• p.Ile633Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Ile640Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile64Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile659Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile68Arg Single submitter ⚠
• p.Ile68Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Leu133Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu149Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu21Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu267His Single submitter Bardet-Biedl syndrome ⚠
• p.Leu309Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu318Val Single submitter ⚠
• p.Leu367Phe Single submitter BBS10-related disorder ⚠
• p.Leu374Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Leu376Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu399Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Leu406Val Single submitter ⚠
• p.Leu421Phe Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu421Pro Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu46Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu523Met Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu533Gln Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Leu600Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Leu609Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Leu637Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Leu637Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu644Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu671Ser Single submitter Inborn genetic diseases ⚠
• p.Leu723Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu90Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu94Arg Single submitter Inborn genetic diseases ⚠
• p.Lys426Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Lys477Glu Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Lys579Gln Single submitter ⚠
• p.Lys646Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Lys697Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Lys708Arg Single submitter ⚠
• p.Lys708fs Single submitter
• p.Lys77Asn Single submitter ⚠
• p.Met109Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Met145Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Met145Val Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Met194Ile Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Met255Val Single submitter Bardet-Biedl syndrome ⚠
• p.Met298Val Single submitter Inborn genetic diseases ⚠
• p.Met420Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Met433Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Met573Val Single submitter Inborn genetic diseases ⚠
• p.Met583Val Single submitter Bardet-Biedl syndrome ⚠
• p.Met628Thr Single submitter Inborn genetic diseases ⚠
• p.Met631Ile Single submitter Bardet-Biedl syndrome 10 ⚠
• p.Met631Val Single submitter Bardet-Biedl syndrome ⚠
• p.Met703Val Single submitter Bardet-Biedl syndrome ⚠
• p.Phe128Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Phe136Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe189Val Single submitter Inborn genetic diseases ⚠
• p.Phe218Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Phe245Val Single submitter Bardet-Biedl syndrome ⚠
• p.Phe288_Met291delinsLeu Single submitter Bardet-Biedl syndrome
• p.Phe446Leu Single submitter Bardet-Biedl syndrome ⚠