TIMM44 — 118 ClinVar variants
All ClinVar germline TIMM44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
2 Conflicting · 30 Benign · 7 Likely benign · 79 Uncertain significance
Full TIMM44 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TIMM44 p.Val149Met Uncertain significance Multiple submitters
- TIMM44 p.Ala271Thr Uncertain significance Single submitter
- TIMM44 p.Ala395Thr Uncertain significance Single submitter
- TIMM44 p.Ala436Val Uncertain significance Single submitter
- TIMM44 p.Ala445Val Uncertain significance Single submitter
- TIMM44 p.Arg113Gln Uncertain significance Single submitter
- TIMM44 p.Arg119Gln Uncertain significance Single submitter
- TIMM44 p.Arg202Gln Uncertain significance Single submitter
- TIMM44 p.Arg206Gln Uncertain significance Single submitter
- TIMM44 p.Arg208Gln Uncertain significance Single submitter
- TIMM44 p.Arg314Gln Uncertain significance Single submitter
- TIMM44 p.Arg368His Uncertain significance Single submitter
- TIMM44 p.Arg418Gly Uncertain significance Single submitter
- TIMM44 p.Arg418Trp Uncertain significance Single submitter
- TIMM44 p.Arg7Trp Uncertain significance Single submitter
- TIMM44 p.Asn374Ser Uncertain significance Single submitter
- TIMM44 p.Asn403Ser Uncertain significance Single submitter
- TIMM44 p.Asp192Asn Uncertain significance Single submitter
- TIMM44 p.Asp247Glu Uncertain significance Single submitter
- TIMM44 p.Cys11Phe Uncertain significance Single submitter
- TIMM44 p.Gln197Glu Uncertain significance Single submitter
- TIMM44 p.Glu228Asp Uncertain significance Single submitter
- TIMM44 p.Glu267Lys Uncertain significance Single submitter
- TIMM44 p.Gly142Ser Uncertain significance Single submitter
- TIMM44 p.Gly166Ser Uncertain significance Single submitter
- TIMM44 p.Gly171Asp Uncertain significance Single submitter
- TIMM44 p.Gly33Ala Uncertain significance Single submitter
- TIMM44 p.Gly386Arg Uncertain significance Single submitter
- TIMM44 p.Gly42Asp Uncertain significance Single submitter
- TIMM44 p.His134Tyr Uncertain significance Single submitter
- TIMM44 p.His28Arg Uncertain significance Single submitter
- TIMM44 p.His32Pro Uncertain significance Single submitter
- TIMM44 p.Ile273Val Uncertain significance Single submitter
- TIMM44 p.Ile303Phe Uncertain significance Single submitter
- TIMM44 p.Leu122Phe Uncertain significance Single submitter
- TIMM44 p.Leu279Phe Uncertain significance Single submitter
- TIMM44 p.Leu290Val Uncertain significance Single submitter
- TIMM44 p.Leu452Phe Uncertain significance Single submitter
- TIMM44 p.Lys154Arg Uncertain significance Single submitter
- TIMM44 p.Lys165Arg Uncertain significance Single submitter
- TIMM44 p.Phe272Ile Uncertain significance Single submitter
- TIMM44 p.Pro41Leu Uncertain significance Single submitter
- TIMM44 p.Ser162Leu Uncertain significance Single submitter
- TIMM44 p.Ser292Thr Uncertain significance Single submitter
- TIMM44 p.Ser80Asn Uncertain significance Single submitter
- TIMM44 p.Ser8Cys Uncertain significance Single submitter
- TIMM44 p.Thr114Met Uncertain significance Single submitter
- TIMM44 p.Thr128Ile Uncertain significance Single submitter
- TIMM44 p.Thr155Met Uncertain significance Single submitter
- TIMM44 p.Thr284Ile Uncertain significance Single submitter
- TIMM44 p.Trp10Arg Uncertain significance Single submitter
- TIMM44 p.Val112Ala Uncertain significance Single submitter
- TIMM44 p.Val223Leu Uncertain significance Single submitter
- TIMM44 p.Val253Met Uncertain significance Single submitter
- TIMM44 p.Val388Leu Uncertain significance Single submitter
- TIMM44 p.Val388Met Uncertain significance Single submitter
- TIMM44 p.Val422Met Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- TIMM44 p.Arg119Trp Uncertain significance Single submitter
- TIMM44 p.Arg143Trp Uncertain significance Single submitter
- TIMM44 p.Arg208Trp Uncertain significance Single submitter
- TIMM44 p.Arg314Trp Uncertain significance Single submitter
- TIMM44 p.Arg368Leu Uncertain significance Single submitter
- TIMM44 p.Arg402Gly Uncertain significance Single submitter
- TIMM44 p.Asp281Gly Uncertain significance Single submitter
- TIMM44 p.Asp285His Uncertain significance Single submitter
- TIMM44 p.Glu108Lys Uncertain significance Single submitter
- TIMM44 p.Glu116Lys Uncertain significance Single submitter
- TIMM44 p.Leu425Val Uncertain significance Single submitter
- TIMM44 p.Lys340Glu Uncertain significance Single submitter
- TIMM44 p.Phe213Leu Uncertain significance Single submitter
- TIMM44 p.Pro413Leu Uncertain significance Single submitter
All TIMM44 variants
Conflicting classifications of pathogenicity 2
- p.Ser20Gly Single submitter ⚠
- p.Val194Ile Single submitter ⚠
Benign 30
- c.1128+3A>G Multiple submitters
- c.313-15G>A Multiple submitters
- c.313-74T>C Multiple submitters
- c.45+8G>A Multiple submitters
- c.544-9C>T Multiple submitters
- c.683+16T>A Multiple submitters
- c.862+42C>T Multiple submitters
- c.863-40C>T Multiple submitters
- c.863-8C>T Multiple submitters
- c.*20T>G Multiple submitters
- p.Asn251Lys Multiple submitters
- p.Asp191= Multiple submitters
- p.Gln23= Multiple submitters
- p.Gly62Ser Multiple submitters
- p.Ile372Val Multiple submitters
- p.Lys121= Multiple submitters
- p.Lys68Arg Multiple submitters
- p.Pro308= Multiple submitters
- p.Ser132= Multiple submitters
- p.Ser34= Multiple submitters
- p.Thr114= Multiple submitters
- p.Tyr435= Multiple submitters
- c.1038+23dup Single submitter
- c.313-13G>A Single submitter
- c.313-24_313-23del Single submitter
- c.46-8C>G Single submitter
- p.Ala330= Single submitter
- p.Leu141= Single submitter
- p.Pro46= Single submitter
- p.Ser268= Single submitter
Likely benign 7
- p.Ala424= Multiple submitters
- c.1038+35del Single submitter
- c.313-25_313-23del Single submitter
- p.Arg257= Single submitter
- p.Asn29Ser Single submitter
- p.Pro226Ala Single submitter
- p.Val375Ile Single submitter
Uncertain significance 79
- p.Val149Met Multiple submitters ⚠
- c.45+16G>T Single submitter
- c.46-8C>A Single submitter
- p.Ala271Thr Single submitter ⚠
- p.Ala395Thr Single submitter ⚠
- p.Ala424Val Single submitter
- p.Ala436Val Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg143Trp Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg206Gln Single submitter ⚠
- p.Arg208Gln Single submitter ⚠
- p.Arg208Trp Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg368His Single submitter ⚠
- p.Arg368Leu Single submitter ⚠
- p.Arg402Gly Single submitter ⚠
- p.Arg418Gly Single submitter ⚠
- p.Arg418Trp Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Asn374Ser Single submitter ⚠
- p.Asn403Ser Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp247Glu Single submitter ⚠
- p.Asp281Gly Single submitter ⚠
- p.Asp285His Single submitter ⚠
- p.Cys11Phe Single submitter ⚠
- p.Gln197Glu Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu228Asp Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu431Gln Single submitter
- p.Gly142Ser Single submitter ⚠
- p.Gly166Ser Single submitter ⚠
- p.Gly171Asp Single submitter ⚠
- p.Gly33Ala Single submitter ⚠
- p.Gly386Arg Single submitter ⚠
- p.Gly42Asp Single submitter ⚠
- p.His134Tyr Single submitter ⚠
- p.His28Arg Single submitter ⚠
- p.His32Pro Single submitter ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile303Phe Single submitter ⚠
- p.Leu122Phe Single submitter ⚠
- p.Leu279Phe Single submitter ⚠
- p.Leu290Val Single submitter ⚠
- p.Leu425Val Single submitter ⚠
- p.Leu452Phe Single submitter ⚠
- p.Lys154Arg Single submitter ⚠
- p.Lys165Arg Single submitter ⚠
- p.Lys340Glu Single submitter ⚠
- p.Lys75Asn Single submitter
- p.Phe213Leu Single submitter ⚠
- p.Phe272Ile Single submitter ⚠
- p.Pro413Leu Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Ser162Leu Single submitter ⚠
- p.Ser162Trp Single submitter
- p.Ser292Thr Single submitter ⚠
- p.Ser80Asn Single submitter ⚠
- p.Ser8Cys Single submitter ⚠
- p.Thr114Met Single submitter ⚠
- p.Thr128Ile Single submitter ⚠
- p.Thr155Met Single submitter ⚠
- p.Thr284Ile Single submitter ⚠
- p.Trp10Arg Single submitter ⚠
- p.Val112Ala Single submitter ⚠
- p.Val223Leu Single submitter ⚠
- p.Val234Met Single submitter
- p.Val253Met Single submitter ⚠
- p.Val388Leu Single submitter ⚠
- p.Val388Met Single submitter ⚠
- p.Val422Met Single submitter ⚠
- p.Met379Thr No assertion criteria