BBS12 — 849 ClinVar variants

Pathogenic 69

• p.Arg355Ter Multiple submitters polydactyly, postaxial, type A1
• p.Gln300Ter Multiple submitters Bardet-Biedl syndrome 12
• p.Gln402Ter Multiple submitters Bardet-Biedl syndrome
• p.Pro133fs Multiple submitters Bardet-Biedl syndrome
• p.Thr224fs Multiple submitters Bardet-Biedl syndrome
• p.Val92fs Multiple submitters Bardet-Biedl syndrome
• p.Ala222fs Single submitter Bardet-Biedl syndrome
• p.Ala297fs Single submitter Bardet-Biedl syndrome
• p.Arg27fs Single submitter Bardet-Biedl syndrome
• p.Arg386Ter Single submitter Bardet-Biedl syndrome
• p.Arg518fs Single submitter Bardet-Biedl syndrome
• p.Asn373fs Single submitter Bardet-Biedl syndrome
• p.Asn398fs Single submitter Bardet-Biedl syndrome
• p.Asn428fs Single submitter Bardet-Biedl syndrome
• p.Asn506fs Single submitter Bardet-Biedl syndrome
• p.Asn700fs Single submitter Bardet-Biedl syndrome
• p.Asn9fs Single submitter Bardet-Biedl syndrome
• p.Asp362fs Single submitter Bardet-Biedl syndrome
• p.Asp678_Leu679insTer Single submitter Bardet-Biedl syndrome
• p.Cys140fs Single submitter Bardet-Biedl syndrome
• p.Cys464fs Single submitter Bardet-Biedl syndrome
• p.Gln228fs Single submitter Bardet-Biedl syndrome 12
• p.Gln350Ter Single submitter Bardet-Biedl syndrome
• p.Gln443fs Single submitter Bardet-Biedl syndrome
• p.Gln511fs Single submitter Bardet-Biedl syndrome
• p.Gln596Ter Single submitter Bardet-Biedl syndrome
• p.Gln698fs Single submitter Bardet-Biedl syndrome
• p.Gln75fs Single submitter Bardet-Biedl syndrome
• p.Glu58fs Single submitter Bardet-Biedl syndrome
• p.Gly191fs Single submitter Bardet-Biedl syndrome
• p.Gly416Ter Single submitter Bardet-Biedl syndrome
• p.Gly540Val Single submitter Bardet-Biedl syndrome
• p.Ile423fs Single submitter Bardet-Biedl syndrome
• p.Ile488fs Single submitter Bardet-Biedl syndrome
• p.Ile690fs Single submitter Bardet-Biedl syndrome
• p.Leu157fs Single submitter Bardet-Biedl syndrome
• p.Leu363fs Single submitter Bardet-Biedl syndrome
• p.Leu404fs Single submitter Bardet-Biedl syndrome
• p.Leu526fs Single submitter Bardet-Biedl syndrome
• p.Leu530Pro Single submitter Bardet-Biedl syndrome
• p.Leu569fs Single submitter Bardet-Biedl syndrome
• p.Leu681fs Single submitter Bardet-Biedl syndrome
• p.Met141fs Single submitter Bardet-Biedl syndrome
• p.Met309fs Single submitter Bardet-Biedl syndrome
• p.Pro108Arg Single submitter Bardet-Biedl syndrome
• p.Pro159fs Single submitter Bardet-Biedl syndrome
• p.Pro32fs Single submitter Bardet-Biedl syndrome
• p.Ser143fs Single submitter Bardet-Biedl syndrome
• p.Ser20fs Single submitter Bardet-Biedl syndrome
• p.Ser213Ter Single submitter Bardet-Biedl syndrome
• p.Ser219fs Single submitter Bardet-Biedl syndrome
• p.Thr606fs Single submitter Bardet-Biedl syndrome
• p.Trp396fs Single submitter Bardet-Biedl syndrome
• p.Trp396Ter Single submitter Bardet-Biedl syndrome
• p.Trp474Ter Single submitter Bardet-Biedl syndrome 12
• p.Trp568Ter Single submitter
• p.Trp575Ter Single submitter Bardet-Biedl syndrome
• p.Tyr263fs Single submitter Bardet-Biedl syndrome 12
• p.Tyr609Ter Single submitter Bardet-Biedl syndrome
• p.Tyr640fs Single submitter Bardet-Biedl syndrome
• p.Tyr81_Arg82delinsTer Single submitter Bardet-Biedl syndrome
• p.Tyr81Ter Single submitter Bardet-Biedl syndrome
• p.Val357fs Single submitter Bardet-Biedl syndrome
• p.Val465fs Single submitter Bardet-Biedl syndrome
• p.Val508fs Single submitter Bardet-Biedl syndrome
• p.Asn562fs No assertion criteria Bardet-Biedl syndrome 1
• p.Asp311Ter No assertion criteria inherited retinal dystrophy
• p.Cys546Ter No assertion criteria inherited retinal dystrophy
• p.Glu495fs No assertion criteria Bardet-Biedl syndrome 12

Pathogenic/Likely pathogenic 53

• p.Arg214Ter Multiple submitters Bardet-Biedl syndrome
• p.Arg675Ter Multiple submitters Bardet-Biedl syndrome 12
• p.Asn485fs Multiple submitters Bardet-Biedl syndrome
• p.Asn605fs Multiple submitters Bardet-Biedl syndrome
• p.Asn649_Ser650insTer Multiple submitters Bardet-Biedl syndrome
• p.Asp142fs Multiple submitters Bardet-Biedl syndrome
• p.Asp383fs Multiple submitters Bardet-Biedl syndrome
• p.Asp480fs Multiple submitters Bardet-Biedl syndrome 12
• p.Asp687fs Multiple submitters Bardet-Biedl syndrome
• p.Cys304fs Multiple submitters Bardet-Biedl syndrome 12
• p.Gln149Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln17fs Multiple submitters Bardet-Biedl syndrome
• p.Gln228Ter Multiple submitters Bardet-Biedl syndrome 12
• p.Gln459Ter Multiple submitters Bardet-Biedl syndrome
• p.Gln511_Gln513del Multiple submitters inherited retinal dystrophy
• p.Gln685Ter Multiple submitters Bardet-Biedl syndrome 12
• p.Gln68Ter Multiple submitters Bardet-Biedl syndrome
• p.Glu254Ter Multiple submitters inherited retinal dystrophy
• p.Glu365fs Multiple submitters Bardet-Biedl syndrome
• p.Glu543fs Multiple submitters Bardet-Biedl syndrome 12
• p.Glu543Lys Multiple submitters Bardet-Biedl syndrome
• p.Glu555fs Multiple submitters Bardet-Biedl syndrome
• p.Glu58Ter Multiple submitters Bardet-Biedl syndrome
• p.Gly361fs Multiple submitters Bardet-Biedl syndrome
• p.Gly371_Phe372insTer Multiple submitters inherited retinal dystrophy
• p.Gly539Asp Multiple submitters Bardet-Biedl syndrome
• p.Gly539fs Multiple submitters Bardet-Biedl syndrome
• p.His260fs Multiple submitters Bardet-Biedl syndrome
• p.Ile232fs Multiple submitters Bardet-Biedl syndrome 12
• p.Leu558fs Multiple submitters Bardet-Biedl syndrome 12
• p.Leu89fs Multiple submitters Bardet-Biedl syndrome
• p.Lys430fs Multiple submitters Bardet-Biedl syndrome
• p.Pro632fs Multiple submitters Bardet-Biedl syndrome
• p.Ser196_Tyr197insTer Multiple submitters Bardet-Biedl syndrome
• p.Ser35Ter Multiple submitters Bardet-Biedl syndrome
• p.Ser384fs Multiple submitters Bardet-Biedl syndrome 12
• p.Ser574fs Multiple submitters Bardet-Biedl syndrome
• p.Ser578Ter Multiple submitters Bardet-Biedl syndrome
• p.Ser600Ter Multiple submitters Bardet-Biedl syndrome 12
• p.Ser64fs Multiple submitters Bardet-Biedl syndrome 12
• p.Ser650Ter Multiple submitters Bardet-Biedl syndrome
• p.Thr336fs Multiple submitters Bardet-Biedl syndrome 12
• p.Thr458fs Multiple submitters Bardet-Biedl syndrome
• p.Thr494fs Multiple submitters Bardet-Biedl syndrome
• p.Thr501Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr586fs Multiple submitters Bardet-Biedl syndrome
• p.Trp673fs Multiple submitters Bardet-Biedl syndrome 12
• p.Tyr263Ter Multiple submitters Bardet-Biedl syndrome 12
• p.Tyr640_Ser641delinsTer Multiple submitters Bardet-Biedl syndrome
• p.Val290fs Multiple submitters Bardet-Biedl syndrome
• p.Val337fs Multiple submitters Bardet-Biedl syndrome
• p.Val381fs Multiple submitters Bardet-Biedl syndrome 12
• p.Val666del Multiple submitters Bardet-Biedl syndrome

Likely pathogenic 56

• p.Ala289Pro Multiple submitters Bardet-Biedl syndrome
• p.Asn366fs Multiple submitters Bardet-Biedl syndrome 12
• p.Gln511Ter Multiple submitters Bardet-Biedl syndrome 12
• p.Ser375fs Multiple submitters Bardet-Biedl syndrome 12
• p.Thr240fs Multiple submitters Bardet-Biedl syndrome 12
• c.-125_-11+924del Single submitter Bardet-Biedl syndrome 12
• p.Arg214fs Single submitter Bardet-Biedl syndrome 12
• p.Arg227fs Single submitter Bardet-Biedl syndrome 12
• p.Arg431fs Single submitter Bardet-Biedl syndrome 12
• p.Arg584fs Single submitter Bardet-Biedl syndrome 12
• p.Arg646fs Single submitter Bardet-Biedl syndrome 12
• p.Asn266fs Single submitter Bardet-Biedl syndrome 12
• p.Cys123Arg Single submitter Bardet-Biedl syndrome
• p.Cys522Ter Single submitter Bardet-Biedl syndrome 12
• p.Cys546_Leu547insTer Single submitter Bardet-Biedl syndrome 12
• p.Gln513Ter Single submitter Bardet-Biedl syndrome 12
• p.Gln658Ter Single submitter Bardet-Biedl syndrome 12
• p.Glu126Ter Single submitter Bardet-Biedl syndrome 12
• p.Glu348Ter Single submitter Bardet-Biedl syndrome 12
• p.Glu447Ter Single submitter Bardet-Biedl syndrome 12
• p.Gly496fs Single submitter Bardet-Biedl syndrome 12
• p.Gly539Cys Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Gly539Val Single submitter Bardet-Biedl syndrome 12
• p.Gly630fs Single submitter Bardet-Biedl syndrome 12
• p.Gly84Arg Single submitter Bardet-Biedl syndrome 12
• p.Ile50fs Single submitter Bardet-Biedl syndrome 12
• p.Leu161fs Single submitter Bardet-Biedl syndrome 12
• p.Leu194fs Single submitter Bardet-Biedl syndrome 12
• p.Leu358fs Single submitter Bardet-Biedl syndrome 12
• p.Leu382Ter Single submitter Bardet-Biedl syndrome 12
• p.Leu553fs Single submitter Bardet-Biedl syndrome 12
• p.Leu637Ter Single submitter Bardet-Biedl syndrome 12
• p.Lys284Ter Single submitter Bardet-Biedl syndrome 12
• p.Phe153fs Single submitter Bardet-Biedl syndrome 12
• p.Phe316fs Single submitter Bardet-Biedl syndrome 12
• p.Pro507fs Single submitter Bardet-Biedl syndrome 12
• p.Ser165Ter Single submitter Bardet-Biedl syndrome 12
• p.Ser190fs Single submitter Bardet-Biedl syndrome 12
• p.Ser566Ter Single submitter Bardet-Biedl syndrome 12
• p.Ser629fs Single submitter Bardet-Biedl syndrome 12
• p.Ser631fs Single submitter Bardet-Biedl syndrome 12
• p.Ser645Ter Single submitter Bardet-Biedl syndrome 12
• p.Ter711Tyr Single submitter Bardet-Biedl syndrome 12
• p.Thr627fs Single submitter Bardet-Biedl syndrome 12
• p.Thr667fs Single submitter Bardet-Biedl syndrome 12
• p.Trp520Ter Single submitter Bardet-Biedl syndrome 12
• p.Tyr367Ter Single submitter Bardet-Biedl syndrome 12
• p.Tyr524Ter Single submitter Bardet-Biedl syndrome 12
• p.Tyr527fs Single submitter Bardet-Biedl syndrome 12
• p.Tyr583Ter Single submitter Bardet-Biedl syndrome 12
• p.Tyr609_Ser610delinsTer Single submitter Bardet-Biedl syndrome 12
• p.Val113del Single submitter Bardet-Biedl syndrome 12
• p.Val409Met Single submitter Bardet-Biedl syndrome
• p.Asp139fs No assertion criteria Bardet-Biedl syndrome 12
• p.Leu599fs No assertion criteria Bardet-Biedl syndrome 12
• p.Lys408Arg No assertion criteria retinitis pigmentosa ⚠

Conflicting classifications of pathogenicity 33

• p.Ala489Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala502= Single submitter Bardet-Biedl syndrome
• p.Ala502Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ala672= Single submitter Bardet-Biedl syndrome 12
• p.Ala672Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Arg314Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg421His Single submitter Inborn genetic diseases ⚠
• p.Arg431Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg525His Single submitter Bardet-Biedl syndrome ⚠
• p.Arg674Cys Single submitter inherited retinal dystrophy ⚠
• p.Asn238Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Asn700= Single submitter Bardet-Biedl syndrome
• p.Asn71Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Cys426Arg Single submitter retinitis pigmentosa ⚠
• p.Cys426Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Gln352Pro Single submitter inherited retinal dystrophy ⚠
• p.Gln620Arg Single submitter Bardet-Biedl syndrome 1 ⚠
• p.Gly119Asp Single submitter Bardet-Biedl syndrome ⚠
• p.His570Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Ile39Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Leu413Val Single submitter inherited retinal dystrophy ⚠
• p.Phe22Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Phe590Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Pro159Leu Single submitter BBS12-related disorder ⚠
• p.Ser327Thr Single submitter Inborn genetic diseases ⚠
• p.Ser392Ter Single submitter Bardet-Biedl syndrome
• p.Ser419= Single submitter Bardet-Biedl syndrome
• p.Thr326= Single submitter Bardet-Biedl syndrome
• p.Tyr294Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Val465Ala Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Val500Ala Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Val665Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Val8Ile Single submitter Inborn genetic diseases ⚠

Benign 14

• c.-10-41A>T Multiple submitters Bardet-Biedl syndrome 12
• c.-124G>A Multiple submitters Bardet-Biedl syndrome 12
• c.*248G>A Multiple submitters Bardet-Biedl syndrome 12
• c.*811C>G Multiple submitters Bardet-Biedl syndrome 12
• p.Cys470= Multiple submitters Bardet-Biedl syndrome
• p.Gln17= Multiple submitters Bardet-Biedl syndrome
• p.Gln624= Multiple submitters Bardet-Biedl syndrome
• p.Gly466= Multiple submitters Bardet-Biedl syndrome
• p.Ser35= Multiple submitters Bardet-Biedl syndrome
• p.Ser616Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val400= Multiple submitters Bardet-Biedl syndrome
• p.Val403Met Multiple submitters Bardet-Biedl syndrome
• c.-10-198T>A Single submitter
• c.*613T>C Single submitter Bardet-Biedl syndrome 12

Benign/Likely benign 9

• p.Arg368His Multiple submitters Bardet-Biedl syndrome
• p.Arg386Gln Multiple submitters Bardet-Biedl syndrome
• p.Arg484Lys Multiple submitters Bardet-Biedl syndrome
• p.Asn461His Multiple submitters Bardet-Biedl syndrome
• p.Asp467Asn Multiple submitters Bardet-Biedl syndrome
• p.Glu126Asp Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Gly119Ser Multiple submitters Bardet-Biedl syndrome
• p.Ser429= Multiple submitters Bardet-Biedl syndrome
• p.Ser429Thr Multiple submitters Bardet-Biedl syndrome

Likely benign 258

• p.Ala489= Multiple submitters Bardet-Biedl syndrome
• p.Asp628= Multiple submitters Bardet-Biedl syndrome
• p.Asp687= Multiple submitters Bardet-Biedl syndrome
• p.Glu639= Multiple submitters Bardet-Biedl syndrome
• p.Thr185= Multiple submitters Bardet-Biedl syndrome 12
• p.Tyr294= Multiple submitters Bardet-Biedl syndrome 12
• p.Val441= Multiple submitters Bardet-Biedl syndrome 12
• c.-61G>C Single submitter Bardet-Biedl syndrome 12
• c.*38A>G Single submitter
• p.Ala208= Single submitter Bardet-Biedl syndrome
• p.Ala23= Single submitter Bardet-Biedl syndrome
• p.Ala258= Single submitter Bardet-Biedl syndrome
• p.Ala297= Single submitter Bardet-Biedl syndrome
• p.Ala4= Single submitter Bardet-Biedl syndrome
• p.Ala446= Single submitter Bardet-Biedl syndrome
• p.Ala455= Single submitter Bardet-Biedl syndrome
• p.Ala510= Single submitter Bardet-Biedl syndrome
• p.Ala523= Single submitter Bardet-Biedl syndrome
• p.Ala529= Single submitter Bardet-Biedl syndrome
• p.Ala541= Single submitter Bardet-Biedl syndrome
• p.Ala554= Single submitter Bardet-Biedl syndrome
• p.Ala577= Single submitter Bardet-Biedl syndrome
• p.Ala615= Single submitter Bardet-Biedl syndrome
• p.Ala626= Single submitter Bardet-Biedl syndrome
• p.Ala676= Single submitter Bardet-Biedl syndrome
• p.Ala76= Single submitter Bardet-Biedl syndrome
• p.Ala98= Single submitter Bardet-Biedl syndrome
• p.Arg12= Single submitter Bardet-Biedl syndrome
• p.Arg192= Single submitter Bardet-Biedl syndrome
• p.Arg214= Single submitter Bardet-Biedl syndrome
• p.Arg227= Single submitter Bardet-Biedl syndrome
• p.Arg239= Single submitter Bardet-Biedl syndrome
• p.Arg314= Single submitter Bardet-Biedl syndrome
• p.Arg475= Single submitter Bardet-Biedl syndrome
• p.Arg487= Single submitter Bardet-Biedl syndrome
• p.Arg518= Single submitter Bardet-Biedl syndrome
• p.Arg55= Single submitter Bardet-Biedl syndrome
• p.Arg6= Single submitter Bardet-Biedl syndrome
• p.Arg674= Single submitter Bardet-Biedl syndrome
• p.Asn238= Single submitter Bardet-Biedl syndrome
• p.Asn266= Single submitter Bardet-Biedl syndrome
• p.Asn342= Single submitter Bardet-Biedl syndrome
• p.Asn351= Single submitter Bardet-Biedl syndrome
• p.Asn366= Single submitter Bardet-Biedl syndrome
• p.Asn410= Single submitter Bardet-Biedl syndrome
• p.Asn417= Single submitter Bardet-Biedl syndrome
• p.Asn438= Single submitter Bardet-Biedl syndrome
• p.Asn485= Single submitter Bardet-Biedl syndrome
• p.Asn506= Single submitter Bardet-Biedl syndrome
• p.Asn593= Single submitter Bardet-Biedl syndrome
• p.Asn605= Single submitter Bardet-Biedl syndrome
• p.Asn78= Single submitter Bardet-Biedl syndrome
• p.Asn79= Single submitter Bardet-Biedl syndrome
• p.Asp166Gly Single submitter Inborn genetic diseases
• p.Asp178= Single submitter Bardet-Biedl syndrome
• p.Asp311= Single submitter Bardet-Biedl syndrome
• p.Asp463= Single submitter Bardet-Biedl syndrome
• p.Asp467= Single submitter Bardet-Biedl syndrome
• p.Asp483= Single submitter Bardet-Biedl syndrome
• p.Asp664= Single submitter Bardet-Biedl syndrome
• p.Cys546= Single submitter Bardet-Biedl syndrome
• p.Cys565= Single submitter Bardet-Biedl syndrome
• p.Gln18= Single submitter Bardet-Biedl syndrome
• p.Gln293= Single submitter Bardet-Biedl syndrome
• p.Gln300= Single submitter Bardet-Biedl syndrome
• p.Gln556= Single submitter Bardet-Biedl syndrome
• p.Gln68= Single submitter Bardet-Biedl syndrome
• p.Gln77= Single submitter Bardet-Biedl syndrome
• p.Glu171= Single submitter Bardet-Biedl syndrome
• p.Glu172= Single submitter Bardet-Biedl syndrome
• p.Glu24= Single submitter Bardet-Biedl syndrome
• p.Glu325= Single submitter Bardet-Biedl syndrome
• p.Glu365= Single submitter Bardet-Biedl syndrome
• p.Glu43= Single submitter Bardet-Biedl syndrome
• p.Glu462= Single submitter Bardet-Biedl syndrome
• p.Glu516= Single submitter Bardet-Biedl syndrome
• p.Glu532= Single submitter Bardet-Biedl syndrome
• p.Glu671= Single submitter Bardet-Biedl syndrome
• p.Gly106= Single submitter Bardet-Biedl syndrome
• p.Gly175= Single submitter Bardet-Biedl syndrome
• p.Gly251= Single submitter Bardet-Biedl syndrome
• p.Gly302= Single submitter Bardet-Biedl syndrome
• p.Gly333= Single submitter Bardet-Biedl syndrome
• p.Gly361= Single submitter Bardet-Biedl syndrome
• p.Gly435= Single submitter Bardet-Biedl syndrome
• p.Gly439= Single submitter Bardet-Biedl syndrome
• p.Gly538= Single submitter Bardet-Biedl syndrome
• p.Gly539= Single submitter Bardet-Biedl syndrome
• p.Gly540= Single submitter Bardet-Biedl syndrome
• p.Gly67= Single submitter Bardet-Biedl syndrome
• p.Gly693= Single submitter Bardet-Biedl syndrome
• p.His13= Single submitter Bardet-Biedl syndrome
• p.His174= Single submitter Bardet-Biedl syndrome
• p.His236= Single submitter Bardet-Biedl syndrome
• p.His255= Single submitter Bardet-Biedl syndrome
• p.His260= Single submitter Bardet-Biedl syndrome
• p.His280= Single submitter Bardet-Biedl syndrome
• p.His369= Single submitter Bardet-Biedl syndrome
• p.His399= Single submitter Bardet-Biedl syndrome
• p.His45= Single submitter Bardet-Biedl syndrome
• p.His551= Single submitter Bardet-Biedl syndrome
• p.His694= Single submitter Bardet-Biedl syndrome
• p.Ile335= Single submitter Bardet-Biedl syndrome
• p.Ile378= Single submitter Bardet-Biedl syndrome
• p.Ile434= Single submitter Bardet-Biedl syndrome
• p.Ile488= Single submitter Bardet-Biedl syndrome
• p.Ile50= Single submitter Bardet-Biedl syndrome
• p.Ile514= Single submitter Bardet-Biedl syndrome
• p.Ile619= Single submitter Bardet-Biedl syndrome
• p.Ile670= Single submitter Bardet-Biedl syndrome
• p.Ile699= Single submitter Bardet-Biedl syndrome
• p.Leu150= Single submitter Bardet-Biedl syndrome
• p.Leu169= Single submitter Bardet-Biedl syndrome
• p.Leu173= Single submitter Bardet-Biedl syndrome
• p.Leu184= Single submitter Bardet-Biedl syndrome
• p.Leu19= Single submitter Bardet-Biedl syndrome
• p.Leu194Val Single submitter Inborn genetic diseases
• p.Leu199= Single submitter Bardet-Biedl syndrome
• p.Leu216= Single submitter Bardet-Biedl syndrome
• p.Leu220= Single submitter Bardet-Biedl syndrome
• p.Leu221= Single submitter Bardet-Biedl syndrome
• p.Leu268= Single submitter Bardet-Biedl syndrome
• p.Leu285= Single submitter Bardet-Biedl syndrome
• p.Leu292= Single submitter Bardet-Biedl syndrome
• p.Leu320= Single submitter Bardet-Biedl syndrome
• p.Leu33= Single submitter Bardet-Biedl syndrome
• p.Leu349= Single submitter Bardet-Biedl syndrome
• p.Leu358= Single submitter Bardet-Biedl syndrome
• p.Leu363= Single submitter Bardet-Biedl syndrome
• p.Leu370= Single submitter Bardet-Biedl syndrome
• p.Leu395= Single submitter Bardet-Biedl syndrome
• p.Leu411= Single submitter Bardet-Biedl syndrome
• p.Leu413= Single submitter Bardet-Biedl syndrome
• p.Leu422= Single submitter Bardet-Biedl syndrome
• p.Leu49= Single submitter Bardet-Biedl syndrome
• p.Leu492= Single submitter Bardet-Biedl syndrome
• p.Leu504= Single submitter Bardet-Biedl syndrome
• p.Leu530= Single submitter Bardet-Biedl syndrome
• p.Leu537= Single submitter Bardet-Biedl syndrome
• p.Leu545= Single submitter Bardet-Biedl syndrome
• p.Leu588= Single submitter Bardet-Biedl syndrome
• p.Leu591= Single submitter Bardet-Biedl syndrome
• p.Leu603= Single submitter Bardet-Biedl syndrome
• p.Leu656= Single submitter Bardet-Biedl syndrome
• p.Leu677= Single submitter Bardet-Biedl syndrome
• p.Leu679= Single submitter Bardet-Biedl syndrome
• p.Leu682= Single submitter Bardet-Biedl syndrome
• p.Leu684= Single submitter Bardet-Biedl syndrome
• p.Lys205= Single submitter Bardet-Biedl syndrome
• p.Lys284= Single submitter Bardet-Biedl syndrome
• p.Lys34= Single submitter
• p.Lys408= Single submitter Bardet-Biedl syndrome
• p.Lys655= Single submitter Bardet-Biedl syndrome
• p.Lys669= Single submitter Bardet-Biedl syndrome
• p.Met442Leu Single submitter Inborn genetic diseases
• p.Phe122= Single submitter Bardet-Biedl syndrome
• p.Phe160= Single submitter Bardet-Biedl syndrome
• p.Phe22= Single submitter Bardet-Biedl syndrome
• p.Phe252= Single submitter Bardet-Biedl syndrome
• p.Phe29= Single submitter Bardet-Biedl syndrome
• p.Phe316= Single submitter Bardet-Biedl syndrome
• p.Phe536= Single submitter Bardet-Biedl syndrome
• p.Phe90= Single submitter Bardet-Biedl syndrome
• p.Pro193= Single submitter Bardet-Biedl syndrome
• p.Pro32= Single submitter Bardet-Biedl syndrome
• p.Pro507= Single submitter Bardet-Biedl syndrome
• p.Pro660= Single submitter Bardet-Biedl syndrome
• p.Pro668= Single submitter Bardet-Biedl syndrome
• p.Ser117= Single submitter Bardet-Biedl syndrome
• p.Ser165= Single submitter Bardet-Biedl syndrome
• p.Ser196= Single submitter Bardet-Biedl syndrome
• p.Ser20= Single submitter Bardet-Biedl syndrome
• p.Ser21= Single submitter Bardet-Biedl syndrome
• p.Ser213= Single submitter Bardet-Biedl syndrome
• p.Ser327= Single submitter Bardet-Biedl syndrome
• p.Ser36= Single submitter Bardet-Biedl syndrome
• p.Ser384= Single submitter Bardet-Biedl syndrome
• p.Ser440= Single submitter Bardet-Biedl syndrome
• p.Ser47= Single submitter Bardet-Biedl syndrome
• p.Ser476= Single submitter Bardet-Biedl syndrome
• p.Ser52= Single submitter Bardet-Biedl syndrome
• p.Ser557= Single submitter Bardet-Biedl syndrome
• p.Ser566= Single submitter Bardet-Biedl syndrome
• p.Ser578= Single submitter Bardet-Biedl syndrome
• p.Ser610= Single submitter Bardet-Biedl syndrome
• p.Ser629= Single submitter Bardet-Biedl syndrome
• p.Ser633= Single submitter Bardet-Biedl syndrome
• p.Ser634= Single submitter Bardet-Biedl syndrome
• p.Ser645= Single submitter Bardet-Biedl syndrome
• p.Ser650= Single submitter Bardet-Biedl syndrome
• p.Ser97= Single submitter Bardet-Biedl syndrome
• p.Thr146= Single submitter Bardet-Biedl syndrome
• p.Thr167= Single submitter Bardet-Biedl syndrome
• p.Thr224= Single submitter Bardet-Biedl syndrome
• p.Thr240= Single submitter Bardet-Biedl syndrome
• p.Thr243= Single submitter Bardet-Biedl syndrome
• p.Thr25= Single submitter Bardet-Biedl syndrome
• p.Thr257= Single submitter Bardet-Biedl syndrome
• p.Thr317= Single submitter Bardet-Biedl syndrome
• p.Thr380= Single submitter Bardet-Biedl syndrome
• p.Thr494= Single submitter Bardet-Biedl syndrome
• p.Thr501= Single submitter Bardet-Biedl syndrome
• p.Thr509= Single submitter Bardet-Biedl syndrome
• p.Thr521= Single submitter Bardet-Biedl syndrome
• p.Thr572= Single submitter Bardet-Biedl syndrome
• p.Thr617= Single submitter Bardet-Biedl syndrome
• p.Thr63= Single submitter Bardet-Biedl syndrome
• p.Thr667= Single submitter Bardet-Biedl syndrome
• p.Thr705= Single submitter Bardet-Biedl syndrome
• p.Thr80= Single submitter Bardet-Biedl syndrome
• p.Thr83= Single submitter Bardet-Biedl syndrome
• p.Tyr197= Single submitter Bardet-Biedl syndrome
• p.Tyr263= Single submitter Bardet-Biedl syndrome
• p.Tyr334= Single submitter Bardet-Biedl syndrome
• p.Tyr367= Single submitter Bardet-Biedl syndrome
• p.Tyr456= Single submitter Bardet-Biedl syndrome
• p.Tyr528= Single submitter Bardet-Biedl syndrome
• p.Tyr604= Single submitter Bardet-Biedl syndrome
• p.Tyr635= Single submitter Bardet-Biedl syndrome
• p.Tyr640= Single submitter Bardet-Biedl syndrome
• p.Tyr663= Single submitter Bardet-Biedl syndrome
• p.Tyr81= Single submitter Bardet-Biedl syndrome
• p.Val113= Single submitter Bardet-Biedl syndrome
• p.Val127= Single submitter Bardet-Biedl syndrome
• p.Val132= Single submitter Bardet-Biedl syndrome
• p.Val163= Single submitter Bardet-Biedl syndrome
• p.Val179= Single submitter Bardet-Biedl syndrome
• p.Val246Ile Single submitter Inborn genetic diseases
• p.Val330= Single submitter Bardet-Biedl syndrome
• p.Val337= Single submitter Bardet-Biedl syndrome
• p.Val338= Single submitter Bardet-Biedl syndrome
• p.Val340= Single submitter Bardet-Biedl syndrome
• p.Val354= Single submitter Bardet-Biedl syndrome
• p.Val381= Single submitter Bardet-Biedl syndrome
• p.Val403= Single submitter Bardet-Biedl syndrome
• p.Val409= Single submitter Bardet-Biedl syndrome
• p.Val418= Single submitter Bardet-Biedl syndrome
• p.Val433= Single submitter Bardet-Biedl syndrome
• p.Val452= Single submitter Bardet-Biedl syndrome
• p.Val454= Single submitter Bardet-Biedl syndrome
• p.Val460= Single submitter Bardet-Biedl syndrome
• p.Val465= Single submitter Bardet-Biedl syndrome
• p.Val469= Single submitter Bardet-Biedl syndrome
• p.Val482= Single submitter Bardet-Biedl syndrome
• p.Val500= Single submitter Bardet-Biedl syndrome
• p.Val508= Single submitter Bardet-Biedl syndrome
• p.Val535= Single submitter Bardet-Biedl syndrome
• p.Val587= Single submitter Bardet-Biedl syndrome
• p.Val666= Single submitter Bardet-Biedl syndrome
• p.Val683= Single submitter Bardet-Biedl syndrome
• p.Val7= Single submitter Bardet-Biedl syndrome
• p.Val74= Single submitter Bardet-Biedl syndrome
• c.-7A>T No assertion criteria BBS12-related disorder
• c.*1T>C No assertion criteria BBS12-related disorder
• p.Arg584= No assertion criteria BBS12-related disorder
• p.Ile497= No assertion criteria BBS12-related disorder
• p.Leu681= No assertion criteria Bardet-Biedl syndrome 12
• p.Ser234= No assertion criteria BBS12-related disorder

Uncertain significance 357

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

• p.Ala23Thr Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ala23Val Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ala448Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala510Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala554Gly Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ala615Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg12del Multiple submitters Bardet-Biedl syndrome
• p.Arg239Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg239Trp Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Arg27Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg386Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg421Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg421Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg487Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg487Lys Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Arg525Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg55Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg674His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg675Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn571Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn638Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asn644Ser Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Asp267Glu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp463Gly Multiple submitters Inborn genetic diseases ⚠
• p.Cys304Tyr Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Cys464Arg Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Gln620Glu Multiple submitters Inborn genetic diseases ⚠
• p.Gln698His Multiple submitters Inborn genetic diseases ⚠
• p.Glu270Ala Multiple submitters BBS12-related disorder ⚠
• p.Glu288del Multiple submitters inherited retinal dystrophy
• p.Glu348Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu420Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu533Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gly435Cys Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Gly435Ser Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Gly450Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly468Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly67Glu Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Gly93Ser Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.His13Tyr Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.His236Tyr Multiple submitters Inborn genetic diseases ⚠
• p.His563Asp Multiple submitters Inborn genetic diseases ⚠
• p.His622Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile112Met Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ile112Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile170Val Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ile359Thr Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ile490Val Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ile636Thr Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Leu105Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu33Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu387Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu553His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu553Pro Multiple submitters Inborn genetic diseases ⚠
• p.Leu56Phe Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Leu656Met Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Lys379Glu Multiple submitters Inborn genetic diseases ⚠
• p.Lys430Arg Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Met14Ile Multiple submitters Inborn genetic diseases ⚠
• p.Met1Leu Multiple submitters Inborn genetic diseases
• p.Met283Val Multiple submitters Inborn genetic diseases ⚠
• p.Pro249Ala Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Pro249Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro660Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser181Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser328del Multiple submitters Bardet-Biedl syndrome
• p.Ser36Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ser47Asn Multiple submitters Inborn genetic diseases ⚠
• p.Ser51Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser566Pro Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ser631Cys Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Ser645del Multiple submitters BBS12-related disorder
• p.Ser64Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser688Gly Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Thr146Ile Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Thr183Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr259Ala Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Thr380Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr458Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr505Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr606Ser Multiple submitters Inborn genetic diseases ⚠
• p.Thr617Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr705Met Multiple submitters Inborn genetic diseases ⚠
• p.Thr87Ala Multiple submitters Inborn genetic diseases ⚠
• p.Trp568Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Trp673Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr263His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr334Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Tyr81His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val115Ala Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val128Ile Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Val134Phe Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Val400Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val471Met Multiple submitters Bardet-Biedl syndrome 12 ⚠
• p.Val503Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val7Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val92Ile Multiple submitters Bardet-Biedl syndrome ⚠
• c.-102C>T Single submitter Bardet-Biedl syndrome 12
• c.-109G>T Single submitter Bardet-Biedl syndrome 12
• c.-152C>G Single submitter Bardet-Biedl syndrome 12
• c.-157C>T Single submitter Bardet-Biedl syndrome 12
• c.*185T>C Single submitter Bardet-Biedl syndrome 12
• c.*425C>T Single submitter Bardet-Biedl syndrome 12
• c.*484A>G Single submitter Bardet-Biedl syndrome 12
• c.*582G>T Single submitter Bardet-Biedl syndrome 12
• c.*804A>G Single submitter Bardet-Biedl syndrome 12
• c.*828A>C Single submitter Bardet-Biedl syndrome 12
• c.*854C>A Single submitter Bardet-Biedl syndrome 12
• c.*859T>A Single submitter Bardet-Biedl syndrome 12
• c.*860G>A Single submitter Bardet-Biedl syndrome 12
• c.*907T>C Single submitter Bardet-Biedl syndrome 12
• p.Ala397Glu Single submitter Inborn genetic diseases ⚠
• p.Ala449Ser Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ala449Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ala451Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Ala489Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala4Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ala554Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ala581Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala76Val Single submitter Bardet-Biedl syndrome ⚠
• p.Arg12Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg192Ile Single submitter Inborn genetic diseases ⚠
• p.Arg214Gln Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Arg355Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg368Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg431Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg525Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg646Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asn242Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Asn242Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn303Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn342Asp Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Asn351His Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Asn373Ser Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Asn461Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn562Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Asn608Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asn644His Single submitter Inborn genetic diseases ⚠
• p.Asn649Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Asn700Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Asp166Asn Single submitter Inborn genetic diseases ⚠
• p.Asp178Gly Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Asp209Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp223Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp362Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp383Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp517Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Asp628Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Asp651Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Asp651Glu Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Cys123Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys304Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Cys329Tyr Single submitter BBS12-related disorder ⚠
• p.Cys44Arg Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Cys522Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Cys546Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Cys565Tyr Single submitter Inborn genetic diseases ⚠
• p.Gln253Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gln253Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Gln402Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gln415Leu Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Gln596Arg Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Gln596Pro Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Gln702Ter Single submitter
• p.Glu101del Single submitter Bardet-Biedl syndrome
• p.Glu270Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu288Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Glu365Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu389Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu532Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu533Gly Single submitter Inborn genetic diseases ⚠
• p.Glu561del Single submitter Bardet-Biedl syndrome
• p.Glu614Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Glu657Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Glu671Lys Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Gly106Val Single submitter Bardet-Biedl syndrome ⚠
• p.Gly175Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Gly191Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly26Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly278Glu Single submitter Inborn genetic diseases ⚠
• p.Gly333Glu Single submitter ⚠
• p.Gly496Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly496Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly706Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly706Asp Single submitter Bardet-Biedl syndrome ⚠
• p.His104Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.His174Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His255Asp Single submitter Bardet-Biedl syndrome ⚠
• p.His255Tyr Single submitter BBS12-related ciliopathy ⚠
• p.His277Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His551Gln Single submitter Bardet-Biedl syndrome ⚠
• p.His551Leu Single submitter Bardet-Biedl syndrome ⚠
• p.His563Arg Single submitter Bardet-Biedl syndrome 12 ⚠
• p.His563Leu Single submitter Inborn genetic diseases ⚠
• p.His570Arg Single submitter Bardet-Biedl syndrome 12 ⚠
• p.His570Gln Single submitter Bardet-Biedl syndrome 12 ⚠
• p.His621Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.His696Arg Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ile111Met Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ile312Val Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ile346Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Ile346Thr Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ile405Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Ile427Met Single submitter Bardet-Biedl syndrome ⚠
• p.Ile427Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile497Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile514Met Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ile619Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ile691Val Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ile699Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Leu130Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Leu184Val Single submitter Inborn genetic diseases ⚠
• p.Leu189Phe Single submitter Inborn genetic diseases ⚠
• p.Leu194Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Leu323Ile Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Leu358Pro Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Leu558Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Leu588Arg Single submitter inherited retinal dystrophy ⚠
• p.Leu588Pro Single submitter Inborn genetic diseases ⚠
• p.Leu643Gln Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Leu679Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu682Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Leu704Phe Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Leu70Ile Single submitter Inborn genetic diseases ⚠
• p.Lys10Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Lys145Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Lys374Asn Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Lys37Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Lys534Gln Single submitter Inborn genetic diseases ⚠
• p.Lys559Ile Single submitter Inborn genetic diseases ⚠
• p.Lys589= Single submitter Bardet-Biedl syndrome 12
• p.Met116Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Met1Thr Single submitter Bardet-Biedl syndrome
• p.Met385Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Phe200Val Single submitter Inborn genetic diseases ⚠
• p.Phe237Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe29Ser Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Phe445Val Single submitter ⚠
• p.Phe536Cys Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Phe536Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Phe544Tyr Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Phe709Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Pro159Ser Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Pro193Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Pro321Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Pro332Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Pro344Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Ser143Asn Single submitter Bardet-Biedl syndrome
• p.Ser148Cys Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ser196Leu Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Ser234Arg Single submitter Inborn genetic diseases ⚠
• p.Ser276Arg Single submitter Inborn genetic diseases ⚠
• p.Ser281Cys Single submitter ⚠
• p.Ser36del Single submitter Bardet-Biedl syndrome
• p.Ser579Pro Single submitter Inborn genetic diseases ⚠
• p.Ser611Leu Single submitter Inborn genetic diseases ⚠
• p.Ser611Pro Single submitter Inborn genetic diseases ⚠
• p.Ser645Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Ser64Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Ser64Ile Single submitter Inborn genetic diseases ⚠
• p.Ter711Xaa Single submitter Bardet-Biedl syndrome
• p.Thr146Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Thr240Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Thr25Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Thr262Ser Single submitter Inborn genetic diseases ⚠
• p.Thr336Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Thr505Ser Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Thr53Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Thr586Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Thr627Ala Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Thr697Ala Single submitter Inborn genetic diseases ⚠
• p.Tyr197Cys Single submitter Inborn genetic diseases ⚠
• p.Tyr456Cys Single submitter Inborn genetic diseases ⚠
• p.Tyr524Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr598Asp Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Tyr598Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr604Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr618Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Val134Ile Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Val269Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Val273Ala Single submitter ⚠
• p.Val286del Single submitter Bardet-Biedl syndrome
• p.Val299Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Val2Ala Single submitter Inborn genetic diseases ⚠
• p.Val337Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Val433Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Val437Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Val465Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Val469Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Val471Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Val48Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Val503Met Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Val535Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Val680Ile Single submitter Bardet-Biedl syndrome 12 ⚠
• p.Val680Lys Single submitter Bardet-Biedl syndrome
• c.*803_*804insT No assertion criteria Bardet-Biedl syndrome 12
• p.Ala289Glu No assertion criteria Bardet-Biedl syndrome 12 ⚠
• p.Ala592Pro No assertion criteria BBS12-related disorder ⚠
• p.Ala592Val No assertion criteria Bardet-Biedl syndrome 12 ⚠
• p.Asn211del No assertion criteria Bardet-Biedl syndrome 12