UNC45B — 398 ClinVar variants
All ClinVar germline UNC45B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →
3 Pathogenic · 3 Likely pathogenic · 6 Conflicting · 67 Benign · 9 Benign/Likely benign · 97 Likely benign · 213 Uncertain significance
Full UNC45B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 202
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
UNC45B p.Arg776Trp
Conflicting
Single submitter
myofibrillar myopathy 11
-
UNC45B p.Asn179Asp
Conflicting
Single submitter
Inborn genetic diseases
- UNC45B p.Asp546Val Conflicting Single submitter
Predictors lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
UNC45B p.Ala626Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Arg481Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Arg622Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Arg752Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Asp902Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Cys84Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Leu252Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Leu312Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Tyr29Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Val100Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- UNC45B p.Val442Met Uncertain significance Multiple submitters
-
UNC45B p.Ala240Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala24Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala25Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala25Thr
Uncertain significance
Single submitter
myofibrillar myopathy 11
-
UNC45B p.Ala266Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala299Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala313Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala40Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Ala50Glu Uncertain significance Single submitter
-
UNC45B p.Ala554Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala557Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala597Thr
Uncertain significance
Single submitter
UNC45B-related disorder
-
UNC45B p.Ala631Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala633Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala63Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala700Asp
Uncertain significance
Single submitter
UNC45B-related disorder
-
UNC45B p.Ala821Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala821Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala823Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala831Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala832Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg102Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg102His
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg155Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg167Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg222Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg258Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg258Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg261Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg319Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg367His
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg376His
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg434His
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg47Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg49Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg526Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg665Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg665Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg747Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Arg795Met Uncertain significance Single submitter
- UNC45B p.Arg82Gln Uncertain significance Single submitter
-
UNC45B p.Arg82Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg83Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg853Gln
Uncertain significance
Single submitter
myofibrillar myopathy 11
-
UNC45B p.Arg853Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Arg865Trp Uncertain significance Single submitter
-
UNC45B p.Arg913Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn160His
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn179Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn475Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn704Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn766Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn771Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn872Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn872His
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Asp135His Uncertain significance Single submitter
- UNC45B p.Asp21Asn Uncertain significance Single submitter
-
UNC45B p.Asp373Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asp547Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asp614Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asp639Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asp71Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asp816Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Cys227Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Cys580Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gln407Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gln550Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Glu107Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Glu443Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Glu606Lys Uncertain significance Single submitter
-
UNC45B p.Glu765Lys
Uncertain significance
Single submitter
myofibrillar myopathy 11
-
UNC45B p.Gly209Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly295Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly413Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly498Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly627Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly684Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly800Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.His374Gln Uncertain significance Single submitter
-
UNC45B p.Ile223Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ile223Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ile458Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ile523Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Ile523Val Uncertain significance Single submitter
-
UNC45B p.Ile629Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu165Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu286Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu416Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu486Phe
Uncertain significance
Single submitter
dilated cardiomyopathy 1A
-
UNC45B p.Leu538Phe
Uncertain significance
Single submitter
UNC45B-related disorder
-
UNC45B p.Leu570Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu724Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu804Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu854Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu867Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Lys154Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Lys613Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Lys648Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Lys750Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Lys834Arg
Uncertain significance
Single submitter
UNC45B-related disorder
-
UNC45B p.Met230Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Met558Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Met768Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Met840Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Met920Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Pro339Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Pro662Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ser204Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ser238Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ser356Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ser403Pro
Uncertain significance
Single submitter
myofibrillar myopathy 11
-
UNC45B p.Ser464Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr105Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr202Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr215Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Thr384Met Uncertain significance Single submitter
-
UNC45B p.Thr44Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr450Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr539Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr576Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr742Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr830Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Tyr363Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Tyr46Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Tyr497Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val232Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val324Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val402Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val484Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val549Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val654Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val792Ile
Uncertain significance
Single submitter
myofibrillar myopathy 11
-
UNC45B p.Val843Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val895Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ile331Asn
Uncertain significance
No assertion criteria
UNC45B-related disorder
Predictors split 53
The independent predictors disagree with each other — read with care.
- UNC45B p.Ala199Val Benign Multiple submitters
- UNC45B p.Arg713Gln Benign/Likely benign Multiple submitters
-
UNC45B p.Arg713Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
UNC45B p.Asp496Val
Uncertain significance
Multiple submitters
myofibrillar myopathy 11
-
UNC45B p.Gln400His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- UNC45B p.Ile850Asn Benign Multiple submitters
-
UNC45B p.Ser288Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- UNC45B p.Ala542Val Uncertain significance Single submitter
-
UNC45B p.Ala737Ser
Uncertain significance
Single submitter
cataract 43
-
UNC45B p.Ala778Val
Conflicting
Single submitter
Inborn genetic diseases
-
UNC45B p.Ala875Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg15Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg167Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg222Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Arg434Cys Uncertain significance Single submitter
-
UNC45B p.Arg49Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Arg515Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Arg515Leu Uncertain significance Single submitter
-
UNC45B p.Arg776Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asn395Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asp147Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Asp325His Uncertain significance Single submitter
- UNC45B p.Asp38Gly Uncertain significance Single submitter
-
UNC45B p.Asp706Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Cys919Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Cys919Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Gln733His Uncertain significance Single submitter
-
UNC45B p.Glu11Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Glu173Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- UNC45B p.Glu435Lys Uncertain significance Single submitter
- UNC45B p.Gly490Ser Uncertain significance Single submitter
-
UNC45B p.Gly666Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly711Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly812Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Gly866Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.His447Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ile217Asn
Conflicting
Single submitter
Inborn genetic diseases
-
UNC45B p.Ile668Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu358Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu623Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu643His
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu889Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Leu916Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Lys898Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Met230Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Phe113Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Ser506Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Thr473Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Tyr322Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val335Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Val654Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
UNC45B p.Asp496Tyr
Likely pathogenic
No assertion criteria
dilated cardiomyopathy 1A
-
UNC45B p.Gly800Arg
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All UNC45B variants
Pathogenic 3
- p.Arg752Gln Multiple submitters UNC45B-related disorder
- p.Arg803Trp No assertion criteria cataract 43
- p.Cys514Arg No assertion criteria myofibrillar myopathy 11
Likely pathogenic 3
- c.2255+5G>C Single submitter myofibrillar myopathy 11
- p.Cys487Tyr Single submitter dilated cardiomyopathy 1A
- p.Asp496Tyr No assertion criteria dilated cardiomyopathy 1A ⚠
Conflicting classifications of pathogenicity 6
- p.Ala778Val Single submitter Inborn genetic diseases ⚠
- p.Ala881Thr Single submitter Inborn genetic diseases
- p.Arg776Trp Single submitter myofibrillar myopathy 11 ⚠
- p.Asn179Asp Single submitter Inborn genetic diseases ⚠
- p.Asp546Val Single submitter ⚠
- p.Ile217Asn Single submitter Inborn genetic diseases ⚠
Benign 67
- c.1151+267A>G Multiple submitters
- c.1548-83C>T Multiple submitters
- c.1689+57A>G Multiple submitters
- c.1958+44C>T Multiple submitters
- c.1959-109C>T Multiple submitters
- c.1959-253A>G Multiple submitters
- c.1959-50G>A Multiple submitters
- c.2025+66T>C Multiple submitters
- c.2026-114G>A Multiple submitters
- c.2139+45T>C Multiple submitters
- c.2140-49C>T Multiple submitters
- c.2255+180C>T Multiple submitters
- c.2255+87T>C Multiple submitters
- c.2374-123G>C Multiple submitters
- c.2374-211G>A Multiple submitters
- c.2529+55A>G Multiple submitters
- c.808+39G>A Multiple submitters myofibrillar myopathy 11
- c.808+4G>C Multiple submitters
- c.980-23G>A Multiple submitters
- c.*13A>C Multiple submitters
- c.*71A>G Multiple submitters
- p.Ala199Val Multiple submitters ⚠
- p.Asn48= Multiple submitters
- p.Cys784Tyr Multiple submitters
- p.Glu380= Multiple submitters
- p.Ile850Asn Multiple submitters ⚠
- p.Leu345= Multiple submitters
- p.Leu555= Multiple submitters
- p.Leu596= Multiple submitters
- p.Leu838= Multiple submitters
- p.Lys10= Multiple submitters
- p.Lys127= Multiple submitters
- p.Lys377Arg Multiple submitters
- p.Lys471= Multiple submitters
- p.Tyr767= Multiple submitters
- p.Val60Ile Multiple submitters
- c.1151+158A>G Single submitter
- c.1453-99G>A Single submitter
- c.1548-11C>T Single submitter
- c.1830+161A>C Single submitter
- c.1830+315C>G Single submitter
- c.1831-270T>C Single submitter
- c.1831-273G>A Single submitter
- c.1831-282C>T Single submitter
- c.1958+256G>C Single submitter
- c.2025+288C>T Single submitter
- c.205+12C>A Single submitter
- c.2255+236del Single submitter
- c.2256-305GA[14] Single submitter
- c.2256-305GA[19] Single submitter
- c.2256-305GA[20] Single submitter
- c.2256-305GA[21] Single submitter
- c.2256-305GA[23] Single submitter
- c.2256-8T>C Single submitter
- c.2373+233G>A Single submitter
- c.2530-295A>T Single submitter
- c.2530-325G>A Single submitter
- c.381+17C>T Single submitter
- c.471+16_471+29del Single submitter
- c.472-306A>T Single submitter
- c.640-70C>T Single submitter
- c.808+261A>G Single submitter
- c.809-203G>A Single submitter
- c.809-20C>T Single submitter
- c.980-180G>C Single submitter
- c.980-251G>A Single submitter
- p.Arg719Gln Single submitter
Benign/Likely benign 9
- c.2026-7C>T Multiple submitters
- c.2530-18C>A Multiple submitters
- p.Arg367Cys Multiple submitters
- p.Arg713Gln Multiple submitters ⚠
- p.Asp730Ala Multiple submitters
- p.Leu33= Multiple submitters
- p.Leu489= Multiple submitters
- p.Pro705Leu Multiple submitters
- p.Thr56Met Multiple submitters Inborn genetic diseases
Likely benign 97
- c.1-133G>A Multiple submitters
- c.1547+22G>C Multiple submitters
- c.1830+8C>A Multiple submitters
- c.2373+29G>A Multiple submitters
- c.2373+82G>A Multiple submitters
- c.2374-42T>C Multiple submitters
- c.382-45G>A Multiple submitters
- c.472-206A>C Multiple submitters
- p.Asn326Ser Multiple submitters
- p.Leu658= Multiple submitters
- c.1151+18C>T Single submitter
- c.1151+286G>A Single submitter
- c.1452+18C>T Single submitter
- c.1452+304T>G Single submitter
- c.1453-173_1453-172del Single submitter
- c.1547+8G>A Single submitter
- c.1548-15C>T Single submitter
- c.168+161G>A Single submitter
- c.168+194C>T Single submitter
- c.1689+197G>T Single submitter
- c.1689+227T>A Single submitter
- c.1689+26C>T Single submitter
- c.1690-15C>A Single submitter
- c.1690-81C>T Single submitter
- c.1831-229G>T Single submitter
- c.1958+16G>T Single submitter
- c.1958+187A>C Single submitter
- c.1958+45G>A Single submitter
- c.1959-11C>T Single submitter
- c.1959-16C>G Single submitter
- c.1959-80G>A Single submitter
- c.2026-18C>T Single submitter
- c.206-157A>G Single submitter
- c.206-16C>A Single submitter
- c.2139+18T>C Single submitter
- c.2256-13C>G Single submitter
- c.2256-163C>T Single submitter
- c.2256-182T>C Single submitter
- c.2373+8A>G Single submitter
- c.2529+12C>T Single submitter
- c.2529+227G>A Single submitter
- c.2530-137A>G Single submitter
- c.381+12C>A Single submitter
- c.381+241T>C Single submitter
- c.382-137G>A Single submitter
- c.471+83C>T Single submitter
- c.472-43G>A Single submitter
- c.639+10C>T Single submitter
- c.640-141G>C Single submitter
- c.640-223G>A Single submitter
- c.640-252G>A Single submitter
- c.640-84A>G Single submitter
- c.809-86A>G Single submitter
- c.980-184G>A Single submitter
- c.980-297T>C Single submitter
- c.980-305G>A Single submitter
- c.-1+107G>C Single submitter
- p.Ala24= Single submitter
- p.Ala299= Single submitter
- p.Ala32= Single submitter
- p.Ala562= Single submitter
- p.Ala626= Single submitter
- p.Ala821= Single submitter
- p.Ala822= Single submitter
- p.Ala876= Single submitter
- p.Arg15Gln Single submitter Inborn genetic diseases
- p.Arg352Cys Single submitter
- p.Arg372= Single submitter
- p.Arg454= Single submitter
- p.Arg729= Single submitter
- p.Asp541= Single submitter
- p.Asp799= Single submitter
- p.Asp99= Single submitter
- p.Cys811= Single submitter
- p.Gln298= Single submitter
- p.Glu255= Single submitter
- p.Ile321= Single submitter
- p.Leu106= Single submitter
- p.Leu184= Single submitter
- p.Leu358= Single submitter
- p.Pro370= Single submitter
- p.Pro389= Single submitter
- p.Ser208= Single submitter
- p.Ser228= Single submitter
- p.Thr436= Single submitter
- p.Thr450= Single submitter
- p.Thr780= Single submitter
- p.Tyr382= Single submitter
- p.Tyr59= Single submitter
- p.Val463= Single submitter
- p.Val573= Single submitter
- p.Val808= Single submitter
- p.Arg434= No assertion criteria UNC45B-related disorder
- p.Asp76Asn No assertion criteria UNC45B-related disorder
- p.Gly800Arg No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
- p.Ile70= No assertion criteria UNC45B-related disorder
- p.Thr845= No assertion criteria UNC45B-related disorder
Uncertain significance 213
- p.Ala626Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg481Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg622Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg713Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg752Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asp496Val Multiple submitters myofibrillar myopathy 11 ⚠
- p.Asp902Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys84Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gln400His Multiple submitters Inborn genetic diseases ⚠
- p.Leu252Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu312Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser288Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr29Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val100Met Multiple submitters Inborn genetic diseases ⚠
- p.Val442Met Multiple submitters ⚠
- c.1151+4A>G Single submitter
- c.1689+10G>T Single submitter
- c.1830+12C>T Single submitter
- c.2140-8C>T Single submitter
- p.Ala240Thr Single submitter Inborn genetic diseases ⚠
- p.Ala24Val Single submitter Inborn genetic diseases ⚠
- p.Ala25Pro Single submitter Inborn genetic diseases ⚠
- p.Ala25Thr Single submitter myofibrillar myopathy 11 ⚠
- p.Ala266Ser Single submitter Inborn genetic diseases ⚠
- p.Ala299Val Single submitter Inborn genetic diseases ⚠
- p.Ala313Thr Single submitter Inborn genetic diseases ⚠
- p.Ala40Asp Single submitter Inborn genetic diseases ⚠
- p.Ala50Glu Single submitter ⚠
- p.Ala542Val Single submitter ⚠
- p.Ala554Ser Single submitter Inborn genetic diseases ⚠
- p.Ala557Thr Single submitter Inborn genetic diseases ⚠
- p.Ala597Thr Single submitter UNC45B-related disorder ⚠
- p.Ala631Val Single submitter Inborn genetic diseases ⚠
- p.Ala633Thr Single submitter Inborn genetic diseases ⚠
- p.Ala63Val Single submitter Inborn genetic diseases ⚠
- p.Ala695Thr Single submitter Inborn genetic diseases
- p.Ala700Asp Single submitter UNC45B-related disorder ⚠
- p.Ala737Ser Single submitter cataract 43 ⚠
- p.Ala821Glu Single submitter Inborn genetic diseases ⚠
- p.Ala821Gly Single submitter Inborn genetic diseases
- p.Ala821Val Single submitter Inborn genetic diseases ⚠
- p.Ala823Thr Single submitter Inborn genetic diseases ⚠
- p.Ala831Thr Single submitter Inborn genetic diseases ⚠
- p.Ala832Val Single submitter Inborn genetic diseases ⚠
- p.Ala875Pro Single submitter Inborn genetic diseases ⚠
- p.Arg102Cys Single submitter Inborn genetic diseases ⚠
- p.Arg102His Single submitter Inborn genetic diseases ⚠
- p.Arg155Trp Single submitter Inborn genetic diseases ⚠
- p.Arg15Trp Single submitter Inborn genetic diseases ⚠
- p.Arg167Cys Single submitter Inborn genetic diseases ⚠
- p.Arg167His Single submitter Inborn genetic diseases
- p.Arg167Leu Single submitter Inborn genetic diseases ⚠
- p.Arg222Gln Single submitter Inborn genetic diseases ⚠
- p.Arg222Trp Single submitter Inborn genetic diseases ⚠
- p.Arg225Ter Single submitter
- p.Arg258Gln Single submitter Inborn genetic diseases ⚠
- p.Arg258Trp Single submitter Inborn genetic diseases ⚠
- p.Arg261Gln Single submitter Inborn genetic diseases ⚠
- p.Arg319Cys Single submitter Inborn genetic diseases ⚠
- p.Arg367His Single submitter Inborn genetic diseases ⚠
- p.Arg376His Single submitter Inborn genetic diseases ⚠
- p.Arg434Cys Single submitter ⚠
- p.Arg434His Single submitter Inborn genetic diseases ⚠
- p.Arg47Gln Single submitter Inborn genetic diseases
- p.Arg47Trp Single submitter Inborn genetic diseases ⚠
- p.Arg49Gln Single submitter Inborn genetic diseases ⚠
- p.Arg49Trp Single submitter Inborn genetic diseases ⚠
- p.Arg515Gly Single submitter Inborn genetic diseases ⚠
- p.Arg515Leu Single submitter ⚠
- p.Arg526Trp Single submitter Inborn genetic diseases ⚠
- p.Arg665Gln Single submitter Inborn genetic diseases ⚠
- p.Arg665Gly Single submitter Inborn genetic diseases ⚠
- p.Arg747Gln Single submitter Inborn genetic diseases ⚠
- p.Arg776Leu Single submitter Inborn genetic diseases ⚠
- p.Arg795Met Single submitter ⚠
- p.Arg803Gln Single submitter myofibrillar myopathy 11
- p.Arg82Gln Single submitter ⚠
- p.Arg82Trp Single submitter Inborn genetic diseases ⚠
- p.Arg83Gln Single submitter Inborn genetic diseases ⚠
- p.Arg853Gln Single submitter myofibrillar myopathy 11 ⚠
- p.Arg853Trp Single submitter Inborn genetic diseases ⚠
- p.Arg865Trp Single submitter ⚠
- p.Arg913Gln Single submitter Inborn genetic diseases ⚠
- p.Asn160His Single submitter Inborn genetic diseases ⚠
- p.Asn179Lys Single submitter Inborn genetic diseases ⚠
- p.Asn395Asp Single submitter Inborn genetic diseases ⚠
- p.Asn475Ser Single submitter Inborn genetic diseases ⚠
- p.Asn704Lys Single submitter Inborn genetic diseases ⚠
- p.Asn766Ser Single submitter Inborn genetic diseases ⚠
- p.Asn771Ser Single submitter Inborn genetic diseases ⚠
- p.Asn872Asp Single submitter Inborn genetic diseases ⚠
- p.Asn872His Single submitter Inborn genetic diseases ⚠
- p.Asp135His Single submitter ⚠
- p.Asp147Gly Single submitter Inborn genetic diseases ⚠
- p.Asp21Asn Single submitter ⚠
- p.Asp325His Single submitter ⚠
- p.Asp373Asn Single submitter Inborn genetic diseases ⚠
- p.Asp38Gly Single submitter ⚠
- p.Asp547Asn Single submitter Inborn genetic diseases ⚠
- p.Asp614Gly Single submitter Inborn genetic diseases ⚠
- p.Asp639Asn Single submitter Inborn genetic diseases ⚠
- p.Asp706Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp71Gly Single submitter Inborn genetic diseases ⚠
- p.Asp816Gly Single submitter Inborn genetic diseases ⚠
- p.Asp94Gly Single submitter Inborn genetic diseases
- p.Cys227Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys580Gly Single submitter Inborn genetic diseases ⚠
- p.Cys919Trp Single submitter Inborn genetic diseases ⚠
- p.Cys919Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln407Glu Single submitter Inborn genetic diseases ⚠
- p.Gln550Arg Single submitter Inborn genetic diseases ⚠
- p.Gln733His Single submitter ⚠
- p.Glu107Lys Single submitter Inborn genetic diseases ⚠
- p.Glu11Lys Single submitter Inborn genetic diseases ⚠
- p.Glu148fs Single submitter myofibrillar myopathy 11
- p.Glu173Gly Single submitter Inborn genetic diseases ⚠
- p.Glu435Lys Single submitter ⚠
- p.Glu443Lys Single submitter Inborn genetic diseases ⚠
- p.Glu606Lys Single submitter ⚠
- p.Glu765Lys Single submitter myofibrillar myopathy 11 ⚠
- p.Gly209Ser Single submitter Inborn genetic diseases ⚠
- p.Gly295Ser Single submitter Inborn genetic diseases ⚠
- p.Gly413Ser Single submitter Inborn genetic diseases ⚠
- p.Gly490Ser Single submitter ⚠
- p.Gly498Ser Single submitter Inborn genetic diseases ⚠
- p.Gly627Asp Single submitter Inborn genetic diseases ⚠
- p.Gly666Ser Single submitter Inborn genetic diseases ⚠
- p.Gly674Ser Single submitter Inborn genetic diseases
- p.Gly684Asp Single submitter Inborn genetic diseases ⚠
- p.Gly711Arg Single submitter Inborn genetic diseases ⚠
- p.Gly800Glu Single submitter Inborn genetic diseases ⚠
- p.Gly812Arg Single submitter Inborn genetic diseases ⚠
- p.Gly866Ser Single submitter Inborn genetic diseases ⚠
- p.His374Gln Single submitter ⚠
- p.His447Gln Single submitter Inborn genetic diseases ⚠
- p.Ile223Leu Single submitter Inborn genetic diseases ⚠
- p.Ile223Met Single submitter Inborn genetic diseases ⚠
- p.Ile458Phe Single submitter Inborn genetic diseases ⚠
- p.Ile523Thr Single submitter Inborn genetic diseases ⚠
- p.Ile523Val Single submitter ⚠
- p.Ile629Val Single submitter Inborn genetic diseases ⚠
- p.Ile668Thr Single submitter Inborn genetic diseases ⚠
- p.Ile869fs Single submitter
- p.Leu165Val Single submitter Inborn genetic diseases ⚠
- p.Leu267Pro Single submitter Inborn genetic diseases
- p.Leu286Val Single submitter Inborn genetic diseases ⚠
- p.Leu358Phe Single submitter Inborn genetic diseases ⚠
- p.Leu416Pro Single submitter Inborn genetic diseases ⚠
- p.Leu45= Single submitter myofibrillar myopathy 11
- p.Leu486Phe Single submitter dilated cardiomyopathy 1A ⚠
- p.Leu538Phe Single submitter UNC45B-related disorder ⚠
- p.Leu570Met Single submitter Inborn genetic diseases ⚠
- p.Leu623Phe Single submitter Inborn genetic diseases ⚠
- p.Leu643His Single submitter Inborn genetic diseases ⚠
- p.Leu724Pro Single submitter Inborn genetic diseases ⚠
- p.Leu804Met Single submitter Inborn genetic diseases ⚠
- p.Leu854Phe Single submitter Inborn genetic diseases ⚠
- p.Leu867Pro Single submitter Inborn genetic diseases ⚠
- p.Leu889Pro Single submitter Inborn genetic diseases ⚠
- p.Leu916Phe Single submitter Inborn genetic diseases ⚠
- p.Lys154Met Single submitter Inborn genetic diseases ⚠
- p.Lys567Glu Single submitter Inborn genetic diseases
- p.Lys613Arg Single submitter Inborn genetic diseases ⚠
- p.Lys648Asn Single submitter Inborn genetic diseases ⚠
- p.Lys750Arg Single submitter Inborn genetic diseases ⚠
- p.Lys834Arg Single submitter UNC45B-related disorder ⚠
- p.Lys898Glu Single submitter Inborn genetic diseases ⚠
- p.Met230Ile Single submitter Inborn genetic diseases ⚠
- p.Met230Thr Single submitter Inborn genetic diseases ⚠
- p.Met558Val Single submitter Inborn genetic diseases ⚠
- p.Met768Lys Single submitter Inborn genetic diseases ⚠
- p.Met840Ile Single submitter Inborn genetic diseases ⚠
- p.Met920Val Single submitter Inborn genetic diseases ⚠
- p.Phe113Leu Single submitter Inborn genetic diseases ⚠
- p.Pro339Leu Single submitter Inborn genetic diseases ⚠
- p.Pro662Thr Single submitter Inborn genetic diseases ⚠
- p.Ser204Leu Single submitter Inborn genetic diseases ⚠
- p.Ser238Thr Single submitter Inborn genetic diseases ⚠
- p.Ser356Pro Single submitter Inborn genetic diseases ⚠
- p.Ser403Leu Single submitter
- p.Ser403Pro Single submitter myofibrillar myopathy 11 ⚠
- p.Ser464Pro Single submitter Inborn genetic diseases ⚠
- p.Ser506Leu Single submitter Inborn genetic diseases ⚠
- p.Thr105Ile Single submitter Inborn genetic diseases ⚠
- p.Thr202Ala Single submitter Inborn genetic diseases ⚠
- p.Thr215Ala Single submitter Inborn genetic diseases ⚠
- p.Thr384Met Single submitter ⚠
- p.Thr44Met Single submitter Inborn genetic diseases ⚠
- p.Thr450Met Single submitter Inborn genetic diseases ⚠
- p.Thr473Ile Single submitter Inborn genetic diseases ⚠
- p.Thr539Met Single submitter Inborn genetic diseases ⚠
- p.Thr576Ile Single submitter Inborn genetic diseases ⚠
- p.Thr742Ile Single submitter Inborn genetic diseases ⚠
- p.Thr830Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr322Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr363Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr46Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr497Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr735Cys Single submitter Inborn genetic diseases
- p.Val232Met Single submitter Inborn genetic diseases ⚠
- p.Val324Ala Single submitter Inborn genetic diseases ⚠
- p.Val335Glu Single submitter Inborn genetic diseases ⚠
- p.Val402Ala Single submitter Inborn genetic diseases ⚠
- p.Val484Ala Single submitter Inborn genetic diseases ⚠
- p.Val549Ala Single submitter Inborn genetic diseases ⚠
- p.Val654Ile Single submitter Inborn genetic diseases ⚠
- p.Val654Leu Single submitter Inborn genetic diseases ⚠
- p.Val722Gly Single submitter
- p.Val792Ile Single submitter myofibrillar myopathy 11 ⚠
- p.Val792Leu Single submitter Inborn genetic diseases
- p.Val843Ala Single submitter Inborn genetic diseases ⚠
- p.Val895Leu Single submitter Inborn genetic diseases ⚠
- p.Ile331Asn No assertion criteria UNC45B-related disorder ⚠