TRIM32 — 744 ClinVar variants

Pathogenic 34

• p.Asp487Asn Multiple submitters TRIM32-related disorder
• p.Lys401Ter Multiple submitters Bardet-Biedl syndrome
• p.Ala249fs Single submitter Bardet-Biedl syndrome
• p.Ala363fs Single submitter Bardet-Biedl syndrome
• p.Arg390fs Single submitter
• p.Asp522Ter Single submitter Bardet-Biedl syndrome
• p.Cys103Ter Single submitter Bardet-Biedl syndrome
• p.Cys120fs Single submitter Bardet-Biedl syndrome
• p.Cys64fs Single submitter Bardet-Biedl syndrome
• p.Gln234Ter Single submitter Bardet-Biedl syndrome
• p.Gln276Ter Single submitter Bardet-Biedl syndrome
• p.Gln290Ter Single submitter Bardet-Biedl syndrome
• p.Gln396fs Single submitter Bardet-Biedl syndrome
• p.Glu162fs Single submitter Bardet-Biedl syndrome
• p.Glu255Ter Single submitter Bardet-Biedl syndrome
• p.Glu310Ter Single submitter Bardet-Biedl syndrome
• p.Gly562fs Single submitter Bardet-Biedl syndrome
• p.Leu170Ter Single submitter
• p.Leu253fs Single submitter Bardet-Biedl syndrome
• p.Leu457fs Single submitter Bardet-Biedl syndrome
• p.Lys167fs Single submitter Bardet-Biedl syndrome
• p.Lys296fs Single submitter Bardet-Biedl syndrome
• p.Lys506fs Single submitter Bardet-Biedl syndrome
• p.Met160fs Single submitter Bardet-Biedl syndrome
• p.Ser502Ter Single submitter Bardet-Biedl syndrome
• p.Thr68fs Single submitter Bardet-Biedl syndrome
• p.Trp307fs Single submitter
• p.Trp307Ter Single submitter Bardet-Biedl syndrome
• p.Tyr181Ter Single submitter Bardet-Biedl syndrome
• p.Tyr188Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
• p.Val397fs Single submitter Bardet-Biedl syndrome
• p.Val444fs Single submitter Bardet-Biedl syndrome
• p.Leu535fs No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Thr456fs No assertion criteria Elevated circulating creatine kinase activity

Pathogenic/Likely pathogenic 13

• p.Ala231fs Multiple submitters TRIM32-related disorder
• p.Ala424fs Multiple submitters Bardet-Biedl syndrome
• p.Arg203fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Arg500Ter Multiple submitters TRIM32-related disorder
• p.Asp78fs Multiple submitters Bardet-Biedl syndrome
• p.Cys521fs Multiple submitters TRIM32-related disorder
• p.Glu524fs Multiple submitters TRIM32-related disorder
• p.Leu153fs Multiple submitters Bardet-Biedl syndrome 11
• p.Lys66fs Multiple submitters TRIM32-related disorder
• p.Met370fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Ser114fs Multiple submitters Bardet-Biedl syndrome
• p.Tyr226Ter Multiple submitters TRIM32-related disorder
• p.Tyr378fs Multiple submitters Bardet-Biedl syndrome 11

Likely pathogenic 21

• p.Leu289fs Multiple submitters Bardet-Biedl syndrome 11
• p.Tyr528Ter Multiple submitters Bardet-Biedl syndrome 11
• p.Val504fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Ala338fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Arg166fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Arg193fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Asn217fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Asp259fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Cys39fs Single submitter
• p.Gln129Ter Single submitter
• p.Glu144Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Glu25Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
• p.Glu524Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Glu538Ter Single submitter
• p.Gly607_Tyr608insTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.His460fs Single submitter
• p.Thr399fs Single submitter
• p.Trp494Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Tyr241delinsCysAlaGlyCysValSerLeuTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Val434fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Val484fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H

Conflicting classifications of pathogenicity 46

• c.*1077C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• c.*1152A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• c.*1246T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• c.*1G>A Single submitter
• c.*479G>T Single submitter Bardet-Biedl syndrome 11
• c.*512A>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• c.*692C>G Single submitter Bardet-Biedl syndrome 11
• p.Ala2= Single submitter Bardet-Biedl syndrome
• p.Ala211= Single submitter Bardet-Biedl syndrome
• p.Ala231= Single submitter Bardet-Biedl syndrome
• p.Ala349Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg113= Single submitter Bardet-Biedl syndrome
• p.Arg124Trp Single submitter Bardet-Biedl syndrome ⚠
• p.Arg394His Single submitter TRIM32-related disorder ⚠
• p.Arg408Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg408His Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Arg596Gly Single submitter TRIM32-related disorder ⚠
• p.Arg613Ter Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Asp326= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Cys23= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Cys461= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Gln110= Single submitter Bardet-Biedl syndrome
• p.Gln186His Single submitter Bardet-Biedl syndrome ⚠
• p.Gln248= Single submitter Bardet-Biedl syndrome
• p.Glu30= Single submitter Bardet-Biedl syndrome
• p.Gly96Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.His38= Single submitter Bardet-Biedl syndrome
• p.Ile442= Single submitter Bardet-Biedl syndrome
• p.Ile67= Single submitter Bardet-Biedl syndrome
• p.Leu156Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Leu269= Single submitter Bardet-Biedl syndrome
• p.Leu616= Single submitter Bardet-Biedl syndrome
• p.Leu80= Single submitter Bardet-Biedl syndrome
• p.Lys167= Single submitter Bardet-Biedl syndrome
• p.Met327Val Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Pro137Ser Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Ser174Phe Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Ser92= Single submitter Bardet-Biedl syndrome
• p.Thr135Ile Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Thr257Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Thr380= Single submitter Bardet-Biedl syndrome
• p.Tyr226= Single submitter Bardet-Biedl syndrome
• p.Tyr241Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Tyr378= Single submitter Bardet-Biedl syndrome
• p.Val303Met Single submitter Bardet-Biedl syndrome ⚠
• p.Val591Met Single submitter Bardet-Biedl syndrome 11 ⚠

Benign 8

• c.-133G>C Multiple submitters Bardet-Biedl syndrome 11
• c.-81-98G>A Multiple submitters
• c.-82+86C>T Multiple submitters
• c.*1206T>C Multiple submitters Bardet-Biedl syndrome 11
• c.*129C>T Multiple submitters Bardet-Biedl syndrome 11
• c.*589G>A Multiple submitters Bardet-Biedl syndrome 11
• c.*845C>T Multiple submitters Bardet-Biedl syndrome 11
• p.Val418= Multiple submitters Bardet-Biedl syndrome

Benign/Likely benign 1

• p.Asp425= Multiple submitters Bardet-Biedl syndrome

Likely benign 218

• p.Ala126= Multiple submitters Bardet-Biedl syndrome 11
• p.Ala313= Multiple submitters Bardet-Biedl syndrome
• p.Arg33= Multiple submitters Bardet-Biedl syndrome
• p.Arg540= Multiple submitters Bardet-Biedl syndrome
• p.Arg576= Multiple submitters Bardet-Biedl syndrome
• p.Cys509= Multiple submitters Bardet-Biedl syndrome
• p.Gln541= Multiple submitters Bardet-Biedl syndrome
• p.Glu125= Multiple submitters Bardet-Biedl syndrome
• p.Glu158= Multiple submitters Bardet-Biedl syndrome 11
• p.Glu19= Multiple submitters Bardet-Biedl syndrome
• p.Glu324= Multiple submitters Bardet-Biedl syndrome
• p.Glu347= Multiple submitters Bardet-Biedl syndrome
• p.Glu347Val Multiple submitters Bardet-Biedl syndrome
• p.Gly501= Multiple submitters
• p.Leu227= Multiple submitters Bardet-Biedl syndrome
• p.Leu51= Multiple submitters Bardet-Biedl syndrome
• p.Phe398= Multiple submitters Bardet-Biedl syndrome
• p.Pro122= Multiple submitters Bardet-Biedl syndrome
• p.Pro368= Multiple submitters Bardet-Biedl syndrome
• p.Pro472= Multiple submitters Bardet-Biedl syndrome
• p.Ser554= Multiple submitters Bardet-Biedl syndrome
• p.Ser72= Multiple submitters Bardet-Biedl syndrome
• p.Thr399= Multiple submitters Bardet-Biedl syndrome
• p.Val220= Multiple submitters Bardet-Biedl syndrome
• p.Val286= Multiple submitters Bardet-Biedl syndrome
• p.Val385= Multiple submitters Bardet-Biedl syndrome
• p.Val397= Multiple submitters Bardet-Biedl syndrome
• c.-81-291A>G Single submitter
• c.-94C>T Single submitter
• p.Ala141= Single submitter Bardet-Biedl syndrome
• p.Ala142= Single submitter Bardet-Biedl syndrome
• p.Ala252= Single submitter Bardet-Biedl syndrome
• p.Ala258= Single submitter Bardet-Biedl syndrome
• p.Ala294= Single submitter
• p.Ala308= Single submitter Bardet-Biedl syndrome
• p.Ala311= Single submitter Bardet-Biedl syndrome
• p.Ala316= Single submitter Bardet-Biedl syndrome
• p.Ala334= Single submitter Bardet-Biedl syndrome
• p.Ala338= Single submitter Bardet-Biedl syndrome
• p.Ala424= Single submitter Bardet-Biedl syndrome
• p.Ala5= Single submitter Bardet-Biedl syndrome
• p.Ala513= Single submitter Bardet-Biedl syndrome
• p.Ala523= Single submitter Bardet-Biedl syndrome
• p.Ala53= Single submitter Bardet-Biedl syndrome
• p.Ala579= Single submitter Bardet-Biedl syndrome
• p.Ala89= Single submitter Bardet-Biedl syndrome
• p.Ala94= Single submitter
• p.Arg145= Single submitter Bardet-Biedl syndrome
• p.Arg157= Single submitter Bardet-Biedl syndrome
• p.Arg180= Single submitter Bardet-Biedl syndrome
• p.Arg193= Single submitter
• p.Arg201= Single submitter Bardet-Biedl syndrome
• p.Arg203= Single submitter Bardet-Biedl syndrome
• p.Arg344= Single submitter Bardet-Biedl syndrome
• p.Arg563= Single submitter Bardet-Biedl syndrome
• p.Arg586= Single submitter Bardet-Biedl syndrome
• p.Arg596= Single submitter Bardet-Biedl syndrome
• p.Asn302= Single submitter Bardet-Biedl syndrome
• p.Asn351Ser Single submitter
• p.Asn450= Single submitter Bardet-Biedl syndrome
• p.Asn572= Single submitter Bardet-Biedl syndrome
• p.Asp259= Single submitter Bardet-Biedl syndrome
• p.Asp305= Single submitter Bardet-Biedl syndrome
• p.Asp389= Single submitter Bardet-Biedl syndrome
• p.Asp415= Single submitter Bardet-Biedl syndrome
• p.Asp458= Single submitter Bardet-Biedl syndrome
• p.Asp487= Single submitter Bardet-Biedl syndrome
• p.Asp78= Single submitter Bardet-Biedl syndrome
• p.Cys123= Single submitter Bardet-Biedl syndrome
• p.Cys20= Single submitter Bardet-Biedl syndrome
• p.Cys355= Single submitter Bardet-Biedl syndrome
• p.Cys438= Single submitter Bardet-Biedl syndrome
• p.Cys47= Single submitter Bardet-Biedl syndrome
• p.Cys521= Single submitter Bardet-Biedl syndrome
• p.Cys577= Single submitter Bardet-Biedl syndrome
• p.Gln129= Single submitter Bardet-Biedl syndrome
• p.Gln31= Single submitter Bardet-Biedl syndrome
• p.Gln353= Single submitter Bardet-Biedl syndrome
• p.Gln382= Single submitter Bardet-Biedl syndrome
• p.Gln531= Single submitter Bardet-Biedl syndrome
• p.Glu121= Single submitter Bardet-Biedl syndrome
• p.Glu151Ala Single submitter
• p.Glu222= Single submitter Bardet-Biedl syndrome
• p.Glu260= Single submitter Bardet-Biedl syndrome
• p.Glu384= Single submitter Bardet-Biedl syndrome
• p.Glu406= Single submitter Bardet-Biedl syndrome
• p.Glu49= Single submitter Bardet-Biedl syndrome
• p.Glu573= Single submitter Bardet-Biedl syndrome
• p.Glu614= Single submitter Bardet-Biedl syndrome
• p.Glu93= Single submitter Bardet-Biedl syndrome
• p.Gly172= Single submitter Bardet-Biedl syndrome
• p.Gly189= Single submitter Bardet-Biedl syndrome
• p.Gly208= Single submitter Bardet-Biedl syndrome
• p.Gly365= Single submitter Bardet-Biedl syndrome
• p.Gly383= Single submitter Bardet-Biedl syndrome
• p.Gly391= Single submitter Bardet-Biedl syndrome
• p.Gly402= Single submitter Bardet-Biedl syndrome
• p.Gly423= Single submitter Bardet-Biedl syndrome
• p.Gly459= Single submitter Bardet-Biedl syndrome
• p.Gly481= Single submitter Bardet-Biedl syndrome
• p.Gly534= Single submitter Bardet-Biedl syndrome
• p.Gly553= Single submitter Bardet-Biedl syndrome
• p.Gly556= Single submitter Bardet-Biedl syndrome
• p.Gly559= Single submitter Bardet-Biedl syndrome
• p.Gly562= Single submitter Bardet-Biedl syndrome
• p.Gly580= Single submitter Bardet-Biedl syndrome
• p.Gly606= Single submitter Bardet-Biedl syndrome
• p.Gly90= Single submitter Bardet-Biedl syndrome
• p.His285= Single submitter Bardet-Biedl syndrome
• p.His545= Single submitter Bardet-Biedl syndrome
• p.His638= Single submitter Bardet-Biedl syndrome
• p.Ile407= Single submitter Bardet-Biedl syndrome
• p.Ile590= Single submitter Bardet-Biedl syndrome
• p.Leu107= Single submitter Bardet-Biedl syndrome
• p.Leu117= Single submitter Bardet-Biedl syndrome
• p.Leu136= Single submitter Bardet-Biedl syndrome
• p.Leu14= Single submitter Bardet-Biedl syndrome
• p.Leu156= Single submitter Bardet-Biedl syndrome
• p.Leu163= Single submitter Bardet-Biedl syndrome
• p.Leu170= Single submitter Bardet-Biedl syndrome
• p.Leu185= Single submitter Bardet-Biedl syndrome
• p.Leu199= Single submitter Bardet-Biedl syndrome
• p.Leu253= Single submitter
• p.Leu254= Single submitter Bardet-Biedl syndrome
• p.Leu265= Single submitter Bardet-Biedl syndrome
• p.Leu275= Single submitter Bardet-Biedl syndrome
• p.Leu281= Single submitter Bardet-Biedl syndrome
• p.Leu289= Single submitter Bardet-Biedl syndrome
• p.Leu356= Single submitter
• p.Leu358= Single submitter Bardet-Biedl syndrome
• p.Leu37= Single submitter Bardet-Biedl syndrome
• p.Leu419= Single submitter Bardet-Biedl syndrome
• p.Leu426= Single submitter Bardet-Biedl syndrome
• p.Leu452= Single submitter
• p.Leu478= Single submitter Bardet-Biedl syndrome
• p.Leu510= Single submitter Bardet-Biedl syndrome
• p.Leu52= Single submitter Bardet-Biedl syndrome
• p.Leu537= Single submitter Bardet-Biedl syndrome
• p.Leu546= Single submitter Bardet-Biedl syndrome
• p.Leu561= Single submitter Bardet-Biedl syndrome
• p.Leu611= Single submitter Bardet-Biedl syndrome
• p.Leu624= Single submitter Bardet-Biedl syndrome
• p.Leu630= Single submitter Bardet-Biedl syndrome
• p.Leu631= Single submitter Bardet-Biedl syndrome
• p.Leu633= Single submitter Bardet-Biedl syndrome
• p.Leu73= Single submitter Bardet-Biedl syndrome
• p.Leu83= Single submitter Bardet-Biedl syndrome
• p.Leu9= Single submitter Bardet-Biedl syndrome
• p.Leu91= Single submitter Bardet-Biedl syndrome
• p.Lys245= Single submitter Bardet-Biedl syndrome
• p.Lys282= Single submitter Bardet-Biedl syndrome
• p.Lys517= Single submitter Bardet-Biedl syndrome
• p.Phe421= Single submitter Bardet-Biedl syndrome
• p.Pro108= Single submitter Bardet-Biedl syndrome
• p.Pro131= Single submitter
• p.Pro270= Single submitter Bardet-Biedl syndrome
• p.Pro298= Single submitter Bardet-Biedl syndrome
• p.Pro329= Single submitter Bardet-Biedl syndrome
• p.Pro374= Single submitter Bardet-Biedl syndrome
• p.Pro479= Single submitter Bardet-Biedl syndrome
• p.Pro557= Single submitter Bardet-Biedl syndrome
• p.Pro619= Single submitter Bardet-Biedl syndrome
• p.Pro62= Single submitter Bardet-Biedl syndrome
• p.Pro653= Single submitter Bardet-Biedl syndrome
• p.Ser218= Single submitter Bardet-Biedl syndrome
• p.Ser319= Single submitter Bardet-Biedl syndrome
• p.Ser410= Single submitter Bardet-Biedl syndrome
• p.Ser433= Single submitter Bardet-Biedl syndrome
• p.Ser502= Single submitter Bardet-Biedl syndrome
• p.Ser551= Single submitter Bardet-Biedl syndrome
• p.Ser570= Single submitter Bardet-Biedl syndrome
• p.Ser644= Single submitter Bardet-Biedl syndrome
• p.Ser7= Single submitter Bardet-Biedl syndrome
• p.Thr207= Single submitter Bardet-Biedl syndrome
• p.Thr266= Single submitter Bardet-Biedl syndrome
• p.Thr274= Single submitter Bardet-Biedl syndrome
• p.Thr300= Single submitter Bardet-Biedl syndrome
• p.Thr312= Single submitter Bardet-Biedl syndrome
• p.Thr321= Single submitter Bardet-Biedl syndrome
• p.Thr445= Single submitter Bardet-Biedl syndrome
• p.Thr486= Single submitter Bardet-Biedl syndrome
• p.Thr497= Single submitter Bardet-Biedl syndrome
• p.Thr520= Single submitter Bardet-Biedl syndrome
• p.Thr526= Single submitter Bardet-Biedl syndrome
• p.Thr68= Single submitter Bardet-Biedl syndrome
• p.Thr71= Single submitter Bardet-Biedl syndrome
• p.Thr74= Single submitter Bardet-Biedl syndrome
• p.Thr81= Single submitter Bardet-Biedl syndrome
• p.Tyr181= Single submitter Bardet-Biedl syndrome
• p.Tyr188= Single submitter Bardet-Biedl syndrome
• p.Tyr241= Single submitter Bardet-Biedl syndrome
• p.Tyr393= Single submitter
• p.Tyr448= Single submitter Bardet-Biedl syndrome
• p.Tyr455= Single submitter Bardet-Biedl syndrome
• p.Tyr507= Single submitter Bardet-Biedl syndrome
• p.Tyr650= Single submitter Bardet-Biedl syndrome
• p.Val17= Single submitter Bardet-Biedl syndrome
• p.Val221= Single submitter Bardet-Biedl syndrome
• p.Val233= Single submitter Bardet-Biedl syndrome
• p.Val251= Single submitter Bardet-Biedl syndrome
• p.Val295= Single submitter Bardet-Biedl syndrome
• p.Val303= Single submitter Bardet-Biedl syndrome
• p.Val375= Single submitter Bardet-Biedl syndrome
• p.Val387= Single submitter Bardet-Biedl syndrome
• p.Val454= Single submitter Bardet-Biedl syndrome
• p.Val462= Single submitter Bardet-Biedl syndrome
• p.Val488= Single submitter Bardet-Biedl syndrome
• p.Val504= Single submitter Bardet-Biedl syndrome
• p.Val505= Single submitter Bardet-Biedl syndrome
• p.Val620= Single submitter Bardet-Biedl syndrome
• p.Val82= Single submitter Bardet-Biedl syndrome
• c.-5G>T No assertion criteria TRIM32-related disorder
• c.-6A>G No assertion criteria TRIM32-related disorder
• p.Leu386= No assertion criteria TRIM32-related disorder
• p.Leu441= No assertion criteria TRIM32-related disorder
• p.Lys139= No assertion criteria TRIM32-related disorder
• p.Ser174= No assertion criteria TRIM32-related disorder
• p.Ser314= No assertion criteria TRIM32-related disorder

Uncertain significance 403

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

• c.*152T>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Ala126Val Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Ala141Glu Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Ala313Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Ala338Thr Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Ala388Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala435Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala463Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala89Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ala94Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg101Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg105Gln Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg105Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg106His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg109Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg109Trp Multiple submitters Bardet-Biedl syndrome
• p.Arg113Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg145Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg146His Multiple submitters Inborn genetic diseases
• p.Arg147Gln Multiple submitters TRIM32-related disorder ⚠
• p.Arg155Cys Multiple submitters ⚠
• p.Arg155His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg155Pro Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg155Ser Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg157Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg157Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Arg15Gln Multiple submitters Inborn genetic diseases
• p.Arg15Trp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg165Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Arg165Leu Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg165Trp Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg166Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Arg166Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg193Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Arg193His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg201Cys Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg238Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg238His Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg238Leu Multiple submitters TRIM32-related disorder ⚠
• p.Arg271Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg271Gly Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg271Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg299Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Arg33Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg33His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Arg344Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg390Cys Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg390His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg400Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg400His Multiple submitters Inborn genetic diseases ⚠
• p.Arg400Leu Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg409His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Arg45Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg45His Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg500Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Arg515Gln Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg540Gln Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Arg540Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg563Cys Multiple submitters TRIM32-related disorder ⚠
• p.Arg563His Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg563Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg576His Multiple submitters Bardet-Biedl syndrome
• p.Arg586Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg596Cys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Arg596His Multiple submitters Inborn genetic diseases ⚠
• p.Arg596Leu Multiple submitters TRIM32-related disorder ⚠
• p.Arg613Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Arg69His Multiple submitters Inborn genetic diseases ⚠
• p.Asn217Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Asn372Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Asn79Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Asp127Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Asp148His Multiple submitters Inborn genetic diseases ⚠
• p.Asp197Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp588Val Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Cys461Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gln234Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gln354Arg Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Gln46Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gln46Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Gln46His Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Glu125Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu144Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Glu262del Multiple submitters Bardet-Biedl syndrome
• p.Glu614Lys Multiple submitters Bardet-Biedl syndrome 11
• p.Glu93Lys Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly116Asp Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly287Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Gly365Ser Multiple submitters ⚠
• p.Gly548Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Gly628Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.His8Gln Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile230Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile291Met Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile43Val Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Ile552Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile590Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ile622Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile86Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Leu11Pro Multiple submitters TRIM32-related disorder ⚠
• p.Leu14Phe Multiple submitters Bardet-Biedl syndrome
• p.Leu163Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Leu281Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Leu441Val Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Leu452Phe Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Leu457Val Multiple submitters Bardet-Biedl syndrome ⚠
• p.Leu478Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu98Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Lys175Arg Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Lys247Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Lys297Glu Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Met160Ile Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Met160Thr Multiple submitters Inborn genetic diseases ⚠
• p.Met325Val Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Met361Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Met436Val Multiple submitters Inborn genetic diseases ⚠
• p.Phe496Leu Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Phe550Leu Multiple submitters Inborn genetic diseases ⚠
• p.Phe569del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Pro137Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro270Arg Multiple submitters Inborn genetic diseases ⚠
• p.Pro288His Multiple submitters Inborn genetic diseases ⚠
• p.Pro329Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Pro329Leu Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Pro340Thr Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro619Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Pro653Ser Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser114Asn Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser209Pro Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser335Asn Multiple submitters Inborn genetic diseases ⚠
• p.Ser381Arg Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser381Asn Multiple submitters TRIM32-related disorder ⚠
• p.Ser467Thr Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Ser55Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser566Gly Multiple submitters Bardet-Biedl syndrome 11 ⚠
• p.Ser570Leu Multiple submitters Bardet-Biedl syndrome ⚠
• p.Ser594Gly Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Ser644Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ser644Ile Multiple submitters Bardet-Biedl syndrome
• p.Ser651Pro Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Thr300Ile Multiple submitters Bardet-Biedl syndrome ⚠
• p.Thr399Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Thr652Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Val138Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val195Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val332Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Val375Gly Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val379Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Val385Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Val454Ala Multiple submitters Inborn genetic diseases ⚠
• p.Val462Met Multiple submitters Inborn genetic diseases ⚠
• p.Val527Ile Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Val527Phe Multiple submitters Bardet-Biedl syndrome ⚠
• p.Val95Ala Multiple submitters Bardet-Biedl syndrome ⚠
• c.-109T>C Single submitter Bardet-Biedl syndrome 11
• c.-124G>A Single submitter Bardet-Biedl syndrome 11
• c.-143C>T Single submitter Bardet-Biedl syndrome 11
• c.-5G>A Single submitter
• c.*1060T>C Single submitter Bardet-Biedl syndrome 11
• c.*1074A>T Single submitter Bardet-Biedl syndrome 11
• c.*112G>A Single submitter Bardet-Biedl syndrome 11
• c.*1207A>G Single submitter Bardet-Biedl syndrome 11
• c.*1254C>A Single submitter Bardet-Biedl syndrome 11
• c.*1350A>C Single submitter Bardet-Biedl syndrome 11
• c.*1354C>A Single submitter Bardet-Biedl syndrome 11
• c.*1411_*1414dup Single submitter
• c.*1416A>G Single submitter Bardet-Biedl syndrome 11
• c.*1424C>G Single submitter Bardet-Biedl syndrome 11
• c.*1490A>C Single submitter Bardet-Biedl syndrome 11
• c.*177C>T Single submitter Bardet-Biedl syndrome 11
• c.*206A>G Single submitter Bardet-Biedl syndrome 11
• c.*229C>T Single submitter Bardet-Biedl syndrome 11
• c.*250G>C Single submitter Bardet-Biedl syndrome 11
• c.*283G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• c.*312G>C Single submitter Bardet-Biedl syndrome 11
• c.*371T>C Single submitter Bardet-Biedl syndrome 11
• c.*464C>G Single submitter Bardet-Biedl syndrome 11
• c.*530C>T Single submitter Bardet-Biedl syndrome 11
• c.*676G>T Single submitter Bardet-Biedl syndrome 11
• c.*737T>C Single submitter Bardet-Biedl syndrome 11
• c.*84A>C Single submitter Bardet-Biedl syndrome 11
• c.*866A>C Single submitter Bardet-Biedl syndrome 11
• c.*935A>G Single submitter Bardet-Biedl syndrome 11
• p.Ala179Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Ala308Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala316Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala334Val Single submitter ⚠
• p.Ala338Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Ala348Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Ala349Pro Single submitter Bardet-Biedl syndrome ⚠
• p.Ala349Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala463Val Single submitter ⚠
• p.Ala4Val Single submitter Bardet-Biedl syndrome ⚠
• p.Ala513Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Ala89Ser Single submitter ⚠
• p.Ala94Val Single submitter Bardet-Biedl syndrome ⚠
• p.Arg106Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg113Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg124Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg145Trp Single submitter ⚠
• p.Arg147Trp Single submitter ⚠
• p.Arg166Gly Single submitter ⚠
• p.Arg180Thr Single submitter ⚠
• p.Arg201Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg201His Single submitter Inborn genetic diseases ⚠
• p.Arg203Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Arg203Trp Single submitter Inborn genetic diseases
• p.Arg337Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Arg344Trp Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Arg394Cys Single submitter ⚠
• p.Arg408Gly Single submitter Inborn genetic diseases ⚠
• p.Arg409Cys Single submitter Bardet-Biedl syndrome ⚠
• p.Arg576Cys Single submitter Bardet-Biedl syndrome
• p.Arg586His Single submitter Bardet-Biedl syndrome ⚠
• p.Arg586Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Arg60His Single submitter Bardet-Biedl syndrome ⚠
• p.Arg60Leu Single submitter Bardet-Biedl syndrome ⚠
• p.Arg60Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Arg69= Single submitter
• p.Arg69Cys Single submitter ⚠
• p.Asn351Asp Single submitter ⚠
• p.Asn372Asp Single submitter
• p.Asn372His Single submitter Bardet-Biedl syndrome ⚠
• p.Asn428Thr Single submitter ⚠
• p.Asn79Ile Single submitter Bardet-Biedl syndrome ⚠
• p.Asp12Asn Single submitter
• p.Asp250Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Asp250Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Asp277Gly Single submitter ⚠
• p.Asp389Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Asp574Tyr Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Asp78Asn Single submitter Bardet-Biedl syndrome ⚠
• p.Cys103Arg Single submitter ⚠
• p.Cys120Arg Single submitter Inborn genetic diseases ⚠
• p.Cys438Tyr Single submitter Bardet-Biedl syndrome ⚠
• p.Cys509Ser Single submitter Inborn genetic diseases ⚠
• p.Cys577Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Cys618Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Gln110His Single submitter Inborn genetic diseases ⚠
• p.Gln276Pro Single submitter Bardet-Biedl syndrome
• p.Gln439Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gln629Ter Single submitter Bardet-Biedl syndrome
• p.Glu162Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu191Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu19Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Glu19Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Glu232Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Glu232Gly Single submitter
• p.Glu256Asp Single submitter ⚠
• p.Glu25Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Glu261Lys Single submitter Bardet-Biedl syndrome ⚠
• p.Glu279Val Single submitter Bardet-Biedl syndrome ⚠
• p.Glu29Gly Single submitter Bardet-Biedl syndrome ⚠
• p.Glu331Leu Single submitter Bardet-Biedl syndrome
• p.Glu331Lys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Glu347Gln Single submitter Bardet-Biedl syndrome ⚠
• p.Glu347Gly Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Gly132Asp Single submitter ⚠
• p.Gly150Glu Single submitter ⚠
• p.Gly161Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Gly284Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Gly287Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Gly292Glu Single submitter Bardet-Biedl syndrome ⚠
• p.Gly345Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly369Arg Single submitter Bardet-Biedl syndrome ⚠
• p.Gly402Asp Single submitter ⚠
• p.Gly402Ser Single submitter Bardet-Biedl syndrome ⚠
• p.Gly40Ala Single submitter Bardet-Biedl syndrome ⚠
• p.Gly413Val Single submitter Bardet-Biedl syndrome ⚠
• p.Gly459Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Gly491Glu Single submitter Inborn genetic diseases ⚠
• p.Gly491Val Single submitter ⚠
• p.Gly525Cys Single submitter Bardet-Biedl syndrome 11 ⚠
• p.Gly534Asp Single submitter Bardet-Biedl syndrome ⚠
• p.Gly549Cys Single submitter ⚠
• p.Gly553Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Gly562Asp Single submitter Inborn genetic diseases ⚠
• p.Gly587del Single submitter Bardet-Biedl syndrome
• p.Gly587Ser Single submitter ⚠
• p.Gly607Ser Single submitter ⚠
• p.Gly96Arg Single submitter Inborn genetic diseases ⚠
• p.His133Arg Single submitter Bardet-Biedl syndrome ⚠
• p.His190Pro Single submitter Inborn genetic diseases ⚠
• p.His38Tyr Single submitter ⚠
• p.His646Arg Single submitter ⚠
• p.Ile246Thr Single submitter Bardet-Biedl syndrome ⚠
• p.Ile291Ser Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Ile291Thr Single submitter Inborn genetic diseases ⚠
• p.Ile475_Thr476insIle Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H
• p.Ile475Val Single submitter Inborn genetic diseases ⚠
• p.Ile565Met Single submitter Bardet-Biedl syndrome ⚠
• p.Ile612Phe Single submitter ⚠
• p.Leu107Val Single submitter Bardet-Biedl syndrome ⚠
• p.Leu136His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
• p.Leu14Val Single submitter ⚠
• p.Leu153Ile Single submitter Inborn genetic diseases ⚠
• p.Leu228Phe Single submitter Bardet-Biedl syndrome
• p.Leu404Phe Single submitter Inborn genetic diseases ⚠
• p.Leu429Phe Single submitter Bardet-Biedl syndrome ⚠
• p.Leu432Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠