BBS5 — 443 ClinVar variants
All ClinVar germline BBS5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
32 Pathogenic · 12 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 10 Conflicting · 26 Benign · 5 Benign/Likely benign · 171 Likely benign · 164 Uncertain significance
Full BBS5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BBS5 p.Val71Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BBS5 p.Arg143Lys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Arg66Lys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Glu158Lys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Glu223Val
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Glu277Lys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Glu282Lys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Glu9Lys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Gly264Arg
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Gly45Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.His159Tyr
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.His190Pro
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Leu62Ser
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Leu98Pro
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Phe181Ser
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Ser103Asn
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Thr111Ile
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Thr296Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.Ala191Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Ala259Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ala301Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Ala6Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Arg119Ile
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Arg129Lys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Arg138Pro
Uncertain significance
Single submitter
Bardet-Biedl syndrome
- BBS5 p.Arg143Thr Uncertain significance Single submitter
- BBS5 p.Asn251Lys Uncertain significance Single submitter
-
BBS5 p.Asn251Ser
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asp16Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asp213Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Asp287Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Asp293Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Asp297Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asp39Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Cys101Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Gln151Pro
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Glu38Gln
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Glu9Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Glu9Gln
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Gly217Cys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Gly217Ser
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Gly230Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Gly264Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Gly335Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ile250Leu
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Leu113Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Leu322Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Leu4Gln
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
- BBS5 p.Leu50Pro Uncertain significance Single submitter
-
BBS5 p.Lys255Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Lys272Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Met269Ile
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Phe121Leu
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Phe263Ser
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Pro239Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Pro26Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Ser200Gly
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ser224Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ser246Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Thr280Lys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Trp337Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Trp8Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Trp8Cys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Tyr203His
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Tyr267Asp
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Val188Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Val221Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Val265Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Val265Ile
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Val300Leu
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Ala6Ser
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Gly306Val
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Gly48Asp
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Ile222Arg
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Ile79Val
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Lys100Glu
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Lys272Gln
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Ser65Pro
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Val127Ala
Uncertain significance
No assertion criteria
BBS5-related disorder
Predictors split 64
The independent predictors disagree with each other — read with care.
-
BBS5 p.Arg11Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.Arg207His
Benign/Likely benign
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Arg312His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.Arg89Gln
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Asn68Ser
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Asn74Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.Ile109Val
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Ile31Thr
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Leu77Met
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Phe299Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.Pro118Arg
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Pro275Leu
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
-
BBS5 p.Thr122Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.Thr122Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BBS5 p.Tyr257Cys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome
-
BBS5 p.Val160Ala
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 5
- BBS5 p.Ala126Val Uncertain significance Single submitter
-
BBS5 p.Ala301Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ala6Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Arg105Cys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Arg207Cys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asn184Ser
Conflicting
Single submitter
inherited retinal dystrophy
-
BBS5 p.Asn198Ser
Conflicting
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asn251Asp
Conflicting
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asp12Asn
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asp195Gly
Conflicting
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asp238Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Asp305Tyr
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Cys33Tyr
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Gln334Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Glu270Lys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Glu313Lys
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Gly116Ala
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Gly116Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.His190Tyr
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ile201Met
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ile222Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ile262Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Ile37Thr
Conflicting
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ile76Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ile97Met
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Leu220Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Leu276Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Leu30Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome
- BBS5 p.Leu50Ile Uncertain significance Single submitter
-
BBS5 p.Leu95Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Lys150Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ser208Leu
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ser225Cys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ser225Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Ser228Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Ser292Cys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Ser36Thr
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Thr122Ala
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Thr179Ile
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Thr280Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Tyr96Cys
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Val124Met
Uncertain significance
Single submitter
Bardet-Biedl syndrome 5
-
BBS5 p.Val167Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
BBS5 p.Val240Met
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Val247Gly
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
BBS5 p.Arg66Gly
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Glu241Gly
Uncertain significance
No assertion criteria
BBS5-related disorder
-
BBS5 p.Phe140Cys
Uncertain significance
No assertion criteria
BBS5-related disorder
All BBS5 variants
Pathogenic 32
- p.Ala19fs Multiple submitters Bardet-Biedl syndrome
- p.Arg89Ter Multiple submitters Bardet-Biedl syndrome
- p.Gly42fs Multiple submitters Bardet-Biedl syndrome
- p.Leu142Ter Multiple submitters Bardet-Biedl syndrome
- p.Lys236_Ile237insTer Multiple submitters Bardet-Biedl syndrome 5
- p.Met1Lys Multiple submitters Bardet-Biedl syndrome
- c.143-1G>A Single submitter Bardet-Biedl syndrome
- c.522+3A>G Single submitter Bardet-Biedl syndrome
- p.Ala219fs Single submitter Bardet-Biedl syndrome
- p.Arg186Ter Single submitter Bardet-Biedl syndrome
- p.Asn184_Val185insAsn Single submitter Bardet-Biedl syndrome
- p.Gln174Ter Single submitter Bardet-Biedl syndrome
- p.Gln20Ter Single submitter Bardet-Biedl syndrome
- p.Gln309Ter Single submitter Bardet-Biedl syndrome
- p.Glu270Ter Single submitter Bardet-Biedl syndrome
- p.Glu282Ter Single submitter Bardet-Biedl syndrome
- p.His190_Ile201delinsTyrTer Single submitter Bardet-Biedl syndrome
- p.Ile187fs Single submitter Bardet-Biedl syndrome 5
- p.Leu220fs Single submitter Early onset severe obesity
- p.Leu4fs Single submitter Bardet-Biedl syndrome
- p.Leu55Ser Single submitter Bardet-Biedl syndrome
- p.Lys141Ter Single submitter Bardet-Biedl syndrome 5
- p.Met136fs Single submitter Bardet-Biedl syndrome
- p.Met1Thr Single submitter Bardet-Biedl syndrome
- p.Ser208Ter Single submitter Bardet-Biedl syndrome
- p.Trp59Ter Single submitter Bardet-Biedl syndrome
- p.Val188fs Single submitter Bardet-Biedl syndrome
- p.Val67fs Single submitter Bardet-Biedl syndrome
- p.Val69fs Single submitter Bardet-Biedl syndrome
- c.(?_-60 No assertion criteria Bardet-Biedl syndrome 5
- p.Met1Val No assertion criteria Bardet-Biedl syndrome 5
- p.Thr183Ala No assertion criteria Bardet-Biedl syndrome 5
Pathogenic/Likely pathogenic 12
- c.143-1G>C Multiple submitters Bardet-Biedl syndrome 5
- c.209-1G>A Multiple submitters Bardet-Biedl syndrome 5
- c.681+1G>T Multiple submitters Bardet-Biedl syndrome 5
- p.Ala323fs Multiple submitters Bardet-Biedl syndrome 5
- p.Arg138His Multiple submitters Bardet-Biedl syndrome
- p.Asn102Ter Multiple submitters Bardet-Biedl syndrome
- p.Asn149fs Multiple submitters Bardet-Biedl syndrome
- p.Gly72Ser Multiple submitters Bardet-Biedl syndrome
- p.Met1Leu Multiple submitters Bardet-Biedl syndrome
- p.Trp189Ter Multiple submitters Bardet-Biedl syndrome 5
- p.Trp8Ter Multiple submitters Bardet-Biedl syndrome
- p.Val315fs Multiple submitters Bardet-Biedl syndrome
Likely pathogenic 23
- c.209-2A>G Multiple submitters Bardet-Biedl syndrome 5
- p.Arg138Cys Multiple submitters Bardet-Biedl syndrome
- c.142+1del Single submitter Bardet-Biedl syndrome 5
- c.142+1G>T Single submitter Bardet-Biedl syndrome
- c.258+2T>C Single submitter Bardet-Biedl syndrome
- c.259-1G>A Single submitter Bardet-Biedl syndrome
- c.386+1G>T Single submitter Bardet-Biedl syndrome 5
- c.386+2T>C Single submitter Bardet-Biedl syndrome 5
- c.59+5G>T Single submitter Bardet-Biedl syndrome
- c.60-2A>C Single submitter Bardet-Biedl syndrome
- c.817-1G>A Single submitter Bardet-Biedl syndrome
- c.900+1G>A Single submitter Bardet-Biedl syndrome 5
- p.Arg56Gly Single submitter Bardet-Biedl syndrome
- p.Gln157fs Single submitter Bardet-Biedl syndrome 5
- p.Gln205Ter Single submitter Bardet-Biedl syndrome 5
- p.Glu28Ter Single submitter Bardet-Biedl syndrome
- p.Glu319del Single submitter
- p.Gly178Arg Single submitter Bardet-Biedl syndrome 5
- p.Gly27fs Single submitter Bardet-Biedl syndrome 5
- p.Leu320fs Single submitter Bardet-Biedl syndrome 5
- p.Val300fs Single submitter Bardet-Biedl syndrome 5
- c.143-2A>G No assertion criteria BBS5-related disorder
- c.522+1G>A No assertion criteria BBS5-related disorder
Conflicting classifications of pathogenicity 10
- c.259-3C>G Single submitter Bardet-Biedl syndrome
- c.619-1G>C Single submitter Bardet-Biedl syndrome
- c.817-1G>T Single submitter Bardet-Biedl syndrome
- p.Asn184Ser Single submitter inherited retinal dystrophy ⚠
- p.Asn198Ser Single submitter Bardet-Biedl syndrome ⚠
- p.Asn251Asp Single submitter Bardet-Biedl syndrome ⚠
- p.Asp195Gly Single submitter Bardet-Biedl syndrome ⚠
- p.Gln285= Single submitter Bardet-Biedl syndrome 5
- p.Ile37Thr Single submitter Bardet-Biedl syndrome ⚠
- p.Val71Ile Single submitter Inborn genetic diseases ⚠
Benign 26
- c.142+143C>A Multiple submitters
- c.142+160C>A Multiple submitters
- c.387-79A>G Multiple submitters
- c.682-52A>T Multiple submitters
- c.682-84C>A Multiple submitters
- c.900+70G>C Multiple submitters
- c.*242A>G Multiple submitters
- c.*323A>G Multiple submitters
- c.*334T>C Multiple submitters
- p.Leu95= Multiple submitters Bardet-Biedl syndrome
- p.Ser36= Multiple submitters Bardet-Biedl syndrome
- p.Val13= Multiple submitters Bardet-Biedl syndrome
- p.Val167= Multiple submitters Bardet-Biedl syndrome
- c.208+286G>T Single submitter
- c.209-201G>T Single submitter
- c.209-256G>A Single submitter
- c.258+14dup Single submitter Bardet-Biedl syndrome
- c.387-263G>T Single submitter
- c.523-184G>A Single submitter
- c.523-5del Single submitter Bardet-Biedl syndrome
- c.59+164G>A Single submitter
- c.60-176dup Single submitter
- c.618+139T>C Single submitter
- c.817-5T>G Single submitter Bardet-Biedl syndrome
- c.900+255G>A Single submitter
- c.901-236C>A Single submitter
Benign/Likely benign 5
- c.619-16_619-15del Multiple submitters Bardet-Biedl syndrome
- c.901-48G>C Multiple submitters
- p.Arg207His Multiple submitters Bardet-Biedl syndrome ⚠
- p.Ile250= Multiple submitters Bardet-Biedl syndrome
- p.Leu64= Multiple submitters Bardet-Biedl syndrome 5
Likely benign 171
- c.523-18C>T Multiple submitters Bardet-Biedl syndrome
- c.60-3T>C Multiple submitters Bardet-Biedl syndrome
- p.Leu333= Multiple submitters Bardet-Biedl syndrome
- p.Pro156= Multiple submitters Bardet-Biedl syndrome
- p.Ser172= Multiple submitters Bardet-Biedl syndrome 5
- c.142+18T>C Single submitter Bardet-Biedl syndrome
- c.142+19G>A Single submitter Bardet-Biedl syndrome
- c.142+3_142+10dup Single submitter Bardet-Biedl syndrome
- c.142+9A>G Single submitter Bardet-Biedl syndrome
- c.143-10G>T Single submitter
- c.143-11T>C Single submitter Bardet-Biedl syndrome
- c.143-12G>C Single submitter Bardet-Biedl syndrome
- c.143-13TG[2] Single submitter Bardet-Biedl syndrome
- c.143-19T>C Single submitter Bardet-Biedl syndrome
- c.143-4T>C Single submitter Bardet-Biedl syndrome
- c.143-7C>T Single submitter Bardet-Biedl syndrome
- c.208+13G>T Single submitter Bardet-Biedl syndrome
- c.208+15T>C Single submitter Bardet-Biedl syndrome
- c.209-17T>C Single submitter Bardet-Biedl syndrome
- c.209-19C>A Single submitter Bardet-Biedl syndrome
- c.209-19C>T Single submitter Bardet-Biedl syndrome
- c.258+14A>G Single submitter Bardet-Biedl syndrome
- c.258+19A>G Single submitter Bardet-Biedl syndrome
- c.258+7C>G Single submitter Bardet-Biedl syndrome
- c.259-10_259-6dup Single submitter Bardet-Biedl syndrome
- c.259-12T>A Single submitter Bardet-Biedl syndrome
- c.259-13T>A Single submitter Bardet-Biedl syndrome
- c.259-16A>T Single submitter Bardet-Biedl syndrome
- c.259-7C>G Single submitter Bardet-Biedl syndrome
- c.259-8C>T Single submitter Bardet-Biedl syndrome
- c.386+10T>C Single submitter Bardet-Biedl syndrome
- c.386+11A>G Single submitter Bardet-Biedl syndrome
- c.386+13T>C Single submitter Bardet-Biedl syndrome
- c.386+15T>C Single submitter Bardet-Biedl syndrome
- c.386+16A>G Single submitter Bardet-Biedl syndrome
- c.387-10T>G Single submitter Bardet-Biedl syndrome
- c.387-14del Single submitter Bardet-Biedl syndrome
- c.387-15_387-12del Single submitter Bardet-Biedl syndrome
- c.387-18G>C Single submitter Bardet-Biedl syndrome
- c.387-4A>T Single submitter Bardet-Biedl syndrome
- c.522+10A>G Single submitter Bardet-Biedl syndrome
- c.522+8G>A Single submitter Bardet-Biedl syndrome
- c.523-11G>A Single submitter Bardet-Biedl syndrome
- c.523-14A>G Single submitter Bardet-Biedl syndrome
- c.523-20C>G Single submitter Bardet-Biedl syndrome
- c.523-4A>G Single submitter Bardet-Biedl syndrome
- c.59+12A>G Single submitter Bardet-Biedl syndrome
- c.59+13del Single submitter Bardet-Biedl syndrome
- c.59+13G>T Single submitter Bardet-Biedl syndrome
- c.59+17C>G Single submitter Bardet-Biedl syndrome
- c.59+19C>A Single submitter Bardet-Biedl syndrome
- c.60-11A>G Single submitter Bardet-Biedl syndrome
- c.60-14T>C Single submitter Bardet-Biedl syndrome
- c.60-17C>T Single submitter Bardet-Biedl syndrome
- c.60-19A>G Single submitter Bardet-Biedl syndrome
- c.60-19A>T Single submitter Bardet-Biedl syndrome
- c.60-7A>T Single submitter Bardet-Biedl syndrome
- c.60-9T>G Single submitter Bardet-Biedl syndrome
- c.618+10T>C Single submitter Bardet-Biedl syndrome
- c.618+11dup Single submitter Bardet-Biedl syndrome
- c.618+12C>A Single submitter Bardet-Biedl syndrome
- c.618+12C>T Single submitter Bardet-Biedl syndrome
- c.618+14_618+18del Single submitter Bardet-Biedl syndrome
- c.618+20T>A Single submitter Bardet-Biedl syndrome
- c.619-13A>G Single submitter Bardet-Biedl syndrome
- c.619-19_619-14del Single submitter Bardet-Biedl syndrome
- c.619-9T>C Single submitter Bardet-Biedl syndrome
- c.681+10T>G Single submitter Bardet-Biedl syndrome
- c.681+13A>G Single submitter Bardet-Biedl syndrome
- c.681+15A>C Single submitter Bardet-Biedl syndrome
- c.681+15A>G Single submitter Bardet-Biedl syndrome
- c.681+19T>C Single submitter Bardet-Biedl syndrome
- c.681+8C>G Single submitter Bardet-Biedl syndrome
- c.681+9T>C Single submitter Bardet-Biedl syndrome
- c.682-16A>T Single submitter Bardet-Biedl syndrome
- c.682-20T>A Single submitter Bardet-Biedl syndrome
- c.682-5T>C Single submitter Bardet-Biedl syndrome
- c.682-6T>A Single submitter Bardet-Biedl syndrome
- c.682-6T>C Single submitter Bardet-Biedl syndrome
- c.682-7C>A Single submitter Bardet-Biedl syndrome
- c.682-9C>A Single submitter Bardet-Biedl syndrome
- c.816+15A>T Single submitter Bardet-Biedl syndrome
- c.816+17G>A Single submitter Bardet-Biedl syndrome
- c.816+7T>C Single submitter Bardet-Biedl syndrome
- c.900+9C>A Single submitter Bardet-Biedl syndrome
- c.901-11T>G Single submitter Bardet-Biedl syndrome
- c.901-6T>C Single submitter Bardet-Biedl syndrome
- c.924+11T>G Single submitter Bardet-Biedl syndrome
- c.924+12T>A Single submitter Bardet-Biedl syndrome
- c.924+12T>C Single submitter Bardet-Biedl syndrome
- c.924+16T>G Single submitter Bardet-Biedl syndrome
- c.925-15C>T Single submitter Bardet-Biedl syndrome
- c.925-19C>G Single submitter Bardet-Biedl syndrome
- c.925-7C>A Single submitter Bardet-Biedl syndrome
- p.Ala126= Single submitter Bardet-Biedl syndrome
- p.Ala19= Single submitter Bardet-Biedl syndrome
- p.Ala298= Single submitter Bardet-Biedl syndrome
- p.Ala323= Single submitter Bardet-Biedl syndrome
- p.Ala6= Single submitter Bardet-Biedl syndrome
- p.Ala63= Single submitter Bardet-Biedl syndrome
- p.Arg119= Single submitter Bardet-Biedl syndrome
- p.Arg49= Single submitter Bardet-Biedl syndrome
- p.Arg82= Single submitter Bardet-Biedl syndrome
- p.Asn176= Single submitter Bardet-Biedl syndrome
- p.Asn192= Single submitter Bardet-Biedl syndrome
- p.Asn198= Single submitter Bardet-Biedl syndrome
- p.Asn85= Single submitter Bardet-Biedl syndrome
- p.Asp162= Single submitter Bardet-Biedl syndrome
- p.Asp287= Single submitter Bardet-Biedl syndrome
- p.Asp291= Single submitter Bardet-Biedl syndrome
- p.Glu289= Single submitter Bardet-Biedl syndrome
- p.Gly264= Single submitter Bardet-Biedl syndrome
- p.Gly306= Single submitter Bardet-Biedl syndrome
- p.Gly321= Single submitter Bardet-Biedl syndrome
- p.Gly335= Single submitter Bardet-Biedl syndrome
- p.Gly45= Single submitter Bardet-Biedl syndrome
- p.Gly90= Single submitter Bardet-Biedl syndrome
- p.His159= Single submitter Bardet-Biedl syndrome
- p.His295= Single submitter Bardet-Biedl syndrome
- p.His60= Single submitter Bardet-Biedl syndrome
- p.Ile164= Single submitter Bardet-Biedl syndrome
- p.Ile211= Single submitter Bardet-Biedl syndrome
- p.Ile262= Single submitter Bardet-Biedl syndrome
- p.Ile57= Single submitter Bardet-Biedl syndrome
- p.Ile79= Single submitter Bardet-Biedl syndrome
- p.Leu142= Single submitter Bardet-Biedl syndrome
- p.Leu154= Single submitter Bardet-Biedl syndrome
- p.Leu177= Single submitter Bardet-Biedl syndrome
- p.Leu243= Single submitter Bardet-Biedl syndrome
- p.Leu276= Single submitter Bardet-Biedl syndrome
- p.Leu320= Single submitter Bardet-Biedl syndrome
- p.Leu322= Single submitter Bardet-Biedl syndrome
- p.Leu327= Single submitter Bardet-Biedl syndrome
- p.Leu4= Single submitter Bardet-Biedl syndrome
- p.Leu58= Single submitter Bardet-Biedl syndrome
- p.Lys236= Single submitter Bardet-Biedl syndrome
- p.Phe15= Single submitter Bardet-Biedl syndrome
- p.Phe263= Single submitter Bardet-Biedl syndrome
- p.Pro115= Single submitter Bardet-Biedl syndrome
- p.Pro275= Single submitter Bardet-Biedl syndrome
- p.Ser18= Single submitter Bardet-Biedl syndrome
- p.Ser2= Single submitter Bardet-Biedl syndrome
- p.Ser200= Single submitter Bardet-Biedl syndrome
- p.Ser208= Single submitter Bardet-Biedl syndrome
- p.Ser214= Single submitter Bardet-Biedl syndrome
- p.Ser225= Single submitter Bardet-Biedl syndrome
- p.Ser341= Single submitter Bardet-Biedl syndrome
- p.Ser70= Single submitter Bardet-Biedl syndrome
- p.Thr133= Single submitter Bardet-Biedl syndrome
- p.Thr296= Single submitter Bardet-Biedl syndrome
- p.Thr40= Single submitter Bardet-Biedl syndrome
- p.Thr92= Single submitter Bardet-Biedl syndrome
- p.Tyr231= Single submitter Bardet-Biedl syndrome
- p.Tyr302= Single submitter Bardet-Biedl syndrome
- p.Tyr73= Single submitter Bardet-Biedl syndrome
- p.Val114= Single submitter Bardet-Biedl syndrome
- p.Val127= Single submitter Bardet-Biedl syndrome
- p.Val160= Single submitter Bardet-Biedl syndrome
- p.Val240= Single submitter Bardet-Biedl syndrome
- p.Val281= Single submitter Bardet-Biedl syndrome
- c.142+3G>A No assertion criteria BBS5-related disorder
- c.619-19T>C No assertion criteria BBS5-related disorder
- c.619-25T>G No assertion criteria BBS5-related disorder
- c.619-35A>C No assertion criteria BBS5-related disorder
- c.924+8C>G No assertion criteria BBS5-related disorder
- c.-9T>C No assertion criteria BBS5-related disorder
- c.*1T>A No assertion criteria BBS5-related disorder
- c.*5C>A No assertion criteria BBS5-related disorder
- p.Asp195= No assertion criteria BBS5-related disorder
- p.Ile147= No assertion criteria BBS5-related disorder
- p.Leu120= No assertion criteria BBS5-related disorder
Uncertain significance 164
- c.208+5G>A Multiple submitters Bardet-Biedl syndrome 5
- c.208+5G>T Multiple submitters retinal disorder
- c.259-3C>T Multiple submitters Bardet-Biedl syndrome
- c.59+5G>A Multiple submitters Bardet-Biedl syndrome 5
- c.60-10T>G Multiple submitters Bardet-Biedl syndrome 5
- c.925-4A>G Multiple submitters Bardet-Biedl syndrome 5
- p.Arg11Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg143Lys Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Arg312His Multiple submitters Inborn genetic diseases ⚠
- p.Arg66Lys Multiple submitters Bardet-Biedl syndrome ⚠
- p.Arg89Gln Multiple submitters Bardet-Biedl syndrome ⚠
- p.Asn68Ser Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Asn74Thr Multiple submitters Inborn genetic diseases ⚠
- p.Glu158Lys Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Glu223Val Multiple submitters Bardet-Biedl syndrome ⚠
- p.Glu277Lys Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Glu282Lys Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Glu9Lys Multiple submitters Bardet-Biedl syndrome ⚠
- p.Gly264Arg Multiple submitters Bardet-Biedl syndrome ⚠
- p.Gly45Arg Multiple submitters Inborn genetic diseases ⚠
- p.His159Tyr Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.His190Pro Multiple submitters Bardet-Biedl syndrome ⚠
- p.Ile109Val Multiple submitters Bardet-Biedl syndrome ⚠
- p.Ile31Thr Multiple submitters Bardet-Biedl syndrome ⚠
- p.Leu62Ser Multiple submitters Bardet-Biedl syndrome ⚠
- p.Leu77Met Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Leu98Pro Multiple submitters Bardet-Biedl syndrome ⚠
- p.Phe181Ser Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Phe299Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro118Arg Multiple submitters Bardet-Biedl syndrome ⚠
- p.Pro275Leu Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Ser103Asn Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Thr111Ile Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Thr122Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr122Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr296Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr257Cys Multiple submitters Bardet-Biedl syndrome ⚠
- p.Val160Ala Multiple submitters Bardet-Biedl syndrome 5 ⚠
- p.Val300= Multiple submitters inherited retinal dystrophy
- c.142+3G>T Single submitter Bardet-Biedl syndrome
- c.143-8G>T Single submitter Bardet-Biedl syndrome 5
- c.209-9G>A Single submitter Bardet-Biedl syndrome
- c.258+5G>A Single submitter Bardet-Biedl syndrome
- c.387-3T>C Single submitter Bardet-Biedl syndrome 5
- c.522+4T>C Single submitter Bardet-Biedl syndrome
- c.523-10T>C Single submitter Bardet-Biedl syndrome
- c.681+5del Single submitter Bardet-Biedl syndrome
- c.682-1G>A Single submitter Bardet-Biedl syndrome
- c.816+12A>G Single submitter Bardet-Biedl syndrome
- c.817-10T>A Single submitter Bardet-Biedl syndrome
- c.925-3A>G Single submitter Bardet-Biedl syndrome
- c.-2C>A Single submitter
- p.Ala126Val Single submitter ⚠
- p.Ala191Glu Single submitter Inborn genetic diseases ⚠
- p.Ala259Val Single submitter Bardet-Biedl syndrome ⚠
- p.Ala301Thr Single submitter Inborn genetic diseases ⚠
- p.Ala301Val Single submitter Bardet-Biedl syndrome ⚠
- p.Ala6Glu Single submitter Bardet-Biedl syndrome ⚠
- p.Ala6Val Single submitter Bardet-Biedl syndrome ⚠
- p.Arg105Cys Single submitter Bardet-Biedl syndrome ⚠
- p.Arg119Ile Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Arg129Lys Single submitter Bardet-Biedl syndrome ⚠
- p.Arg138Pro Single submitter Bardet-Biedl syndrome ⚠
- p.Arg143Thr Single submitter ⚠
- p.Arg207Cys Single submitter Bardet-Biedl syndrome ⚠
- p.Asn251Lys Single submitter ⚠
- p.Asn251Ser Single submitter Bardet-Biedl syndrome ⚠
- p.Asp12Asn Single submitter Bardet-Biedl syndrome ⚠
- p.Asp16Val Single submitter Bardet-Biedl syndrome ⚠
- p.Asp213Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp238Glu Single submitter Bardet-Biedl syndrome ⚠
- p.Asp287Glu Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Asp293Glu Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Asp297Val Single submitter Bardet-Biedl syndrome ⚠
- p.Asp305Tyr Single submitter Bardet-Biedl syndrome ⚠
- p.Asp39Gly Single submitter Inborn genetic diseases ⚠
- p.Cys101Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys33Tyr Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Gln151Pro Single submitter Bardet-Biedl syndrome ⚠
- p.Gln20= Single submitter Bardet-Biedl syndrome 5
- p.Gln334Arg Single submitter Bardet-Biedl syndrome ⚠
- p.Gln334Ter Single submitter Bardet-Biedl syndrome 5
- p.Glu270Lys Single submitter Bardet-Biedl syndrome ⚠
- p.Glu313Lys Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Glu38Gln Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Glu9Asp Single submitter Inborn genetic diseases ⚠
- p.Glu9Gln Single submitter Bardet-Biedl syndrome ⚠
- p.Gly116Ala Single submitter Bardet-Biedl syndrome ⚠
- p.Gly116Glu Single submitter Bardet-Biedl syndrome ⚠
- p.Gly217Cys Single submitter Bardet-Biedl syndrome ⚠
- p.Gly217Ser Single submitter Bardet-Biedl syndrome ⚠
- p.Gly230Glu Single submitter Bardet-Biedl syndrome ⚠
- p.Gly264Val Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Gly335Arg Single submitter Bardet-Biedl syndrome ⚠
- p.His190Tyr Single submitter Bardet-Biedl syndrome ⚠
- p.Ile201Met Single submitter Bardet-Biedl syndrome ⚠
- p.Ile222Val Single submitter Bardet-Biedl syndrome ⚠
- p.Ile250Leu Single submitter Bardet-Biedl syndrome ⚠
- p.Ile262Thr Single submitter Inborn genetic diseases ⚠
- p.Ile76Val Single submitter Bardet-Biedl syndrome ⚠
- p.Ile97Met Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Leu113Phe Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Leu220Phe Single submitter Bardet-Biedl syndrome ⚠
- p.Leu276Phe Single submitter Bardet-Biedl syndrome ⚠
- p.Leu30Phe Single submitter Bardet-Biedl syndrome ⚠
- p.Leu322Phe Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Leu4Gln Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Leu50Ile Single submitter ⚠
- p.Leu50Pro Single submitter ⚠
- p.Leu95Val Single submitter Bardet-Biedl syndrome ⚠
- p.Lys150Arg Single submitter Bardet-Biedl syndrome ⚠
- p.Lys255Arg Single submitter Bardet-Biedl syndrome ⚠
- p.Lys272Glu Single submitter Bardet-Biedl syndrome ⚠
- p.Lys308= Single submitter Bardet-Biedl syndrome 5
- p.Lys326fs Single submitter Bardet-Biedl syndrome
- p.Met269Ile Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Phe121Leu Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Phe263Ser Single submitter Bardet-Biedl syndrome ⚠
- p.Pro239Ala Single submitter Inborn genetic diseases ⚠
- p.Pro26Arg Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Ser200Gly Single submitter Bardet-Biedl syndrome ⚠
- p.Ser208Leu Single submitter Bardet-Biedl syndrome ⚠
- p.Ser224Arg Single submitter Bardet-Biedl syndrome ⚠
- p.Ser225Cys Single submitter Bardet-Biedl syndrome ⚠
- p.Ser225Phe Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Ser228Thr Single submitter Inborn genetic diseases ⚠
- p.Ser246Ala Single submitter Inborn genetic diseases ⚠
- p.Ser292Cys Single submitter Bardet-Biedl syndrome ⚠
- p.Ser36Thr Single submitter Bardet-Biedl syndrome ⚠
- p.Thr122Ala Single submitter Bardet-Biedl syndrome ⚠
- p.Thr179Ile Single submitter Bardet-Biedl syndrome ⚠
- p.Thr280Ile Single submitter Inborn genetic diseases ⚠
- p.Thr280Lys Single submitter Bardet-Biedl syndrome ⚠
- p.Trp337Arg Single submitter Bardet-Biedl syndrome ⚠
- p.Trp8Arg Single submitter Inborn genetic diseases ⚠
- p.Trp8Cys Single submitter Bardet-Biedl syndrome ⚠
- p.Tyr203His Single submitter Bardet-Biedl syndrome ⚠
- p.Tyr267Asp Single submitter Bardet-Biedl syndrome ⚠
- p.Tyr96Cys Single submitter Bardet-Biedl syndrome ⚠
- p.Val124Met Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Val167Ile Single submitter Inborn genetic diseases ⚠
- p.Val188Leu Single submitter Inborn genetic diseases ⚠
- p.Val221Phe Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Val240Met Single submitter Bardet-Biedl syndrome ⚠
- p.Val247Gly Single submitter Bardet-Biedl syndrome ⚠
- p.Val265Asp Single submitter Inborn genetic diseases ⚠
- p.Val265Ile Single submitter Bardet-Biedl syndrome 5 ⚠
- p.Val300Leu Single submitter Bardet-Biedl syndrome 5 ⚠
- c.143-6_143-3delinsAAA No assertion criteria BBS5-related disorder
- c.208+8T>A No assertion criteria BBS5-related disorder
- c.619-5T>G No assertion criteria BBS5-related disorder
- p.Ala6Ser No assertion criteria BBS5-related disorder ⚠
- p.Arg66Gly No assertion criteria BBS5-related disorder ⚠
- p.Glu241Gly No assertion criteria BBS5-related disorder ⚠
- p.Gly306Val No assertion criteria BBS5-related disorder ⚠
- p.Gly48Asp No assertion criteria BBS5-related disorder ⚠
- p.Ile222Arg No assertion criteria BBS5-related disorder ⚠
- p.Ile79Val No assertion criteria BBS5-related disorder ⚠
- p.Leu62fs No assertion criteria
- p.Lys100Glu No assertion criteria BBS5-related disorder ⚠
- p.Lys272Gln No assertion criteria BBS5-related disorder ⚠
- p.Phe140Cys No assertion criteria BBS5-related disorder ⚠
- p.Ser65Pro No assertion criteria BBS5-related disorder ⚠
- p.Val127Ala No assertion criteria BBS5-related disorder ⚠