TGM3 — 163 ClinVar variants
All ClinVar germline TGM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
1 Pathogenic · 14 Benign · 26 Likely benign · 122 Uncertain significance
Full TGM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 lean, ClinVar uncertain 103
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TGM3 p.Ala150Thr Uncertain significance Single submitter
- TGM3 p.Ala208Thr Uncertain significance Single submitter
- TGM3 p.Ala2Thr Uncertain significance Single submitter
- TGM3 p.Ala370Thr Uncertain significance Single submitter
- TGM3 p.Ala391Ser Uncertain significance Single submitter
- TGM3 p.Ala391Thr Uncertain significance Single submitter
- TGM3 p.Ala456Pro Uncertain significance Single submitter
- TGM3 p.Ala467Val Uncertain significance Single submitter
- TGM3 p.Ala558Thr Uncertain significance Single submitter
- TGM3 p.Ala558Val Uncertain significance Single submitter
- TGM3 p.Ala574Gly Uncertain significance Single submitter
- TGM3 p.Ala86Val Uncertain significance Single submitter
- TGM3 p.Arg200His Uncertain significance Single submitter
- TGM3 p.Arg218Gln Uncertain significance Single submitter
- TGM3 p.Arg218Trp Uncertain significance Single submitter
- TGM3 p.Arg245Gln Uncertain significance Single submitter
- TGM3 p.Arg269Gln Uncertain significance Single submitter
- TGM3 p.Arg292Trp Uncertain significance Single submitter
- TGM3 p.Arg305Gln Uncertain significance Single submitter
- TGM3 p.Arg33Trp Uncertain significance Single submitter
- TGM3 p.Arg340Lys Uncertain significance Single submitter
- TGM3 p.Arg376Gln Uncertain significance Single submitter
- TGM3 p.Arg397Cys Uncertain significance Single submitter
- TGM3 p.Arg397Leu Uncertain significance Single submitter
- TGM3 p.Arg433Cys Uncertain significance Single submitter
- TGM3 p.Arg571Gln Uncertain significance Single submitter
- TGM3 p.Arg571Trp Uncertain significance Single submitter
- TGM3 p.Arg588Gln Uncertain significance Single submitter
- TGM3 p.Arg658Gly Uncertain significance Single submitter
- TGM3 p.Arg658His Uncertain significance Single submitter
- TGM3 p.Asn10Ser Uncertain significance Single submitter
- TGM3 p.Asn169His Uncertain significance Single submitter
- TGM3 p.Asn169Ser Uncertain significance Single submitter
- TGM3 p.Asn225Ser Uncertain significance Single submitter
- TGM3 p.Asn318Lys Uncertain significance Single submitter
- TGM3 p.Asn383Ser Uncertain significance Single submitter
- TGM3 p.Asn415Ser Uncertain significance Single submitter
- TGM3 p.Asp23Ala Uncertain significance Single submitter
- TGM3 p.Asp396Tyr Uncertain significance Single submitter
- TGM3 p.Asp544Asn Uncertain significance Single submitter
- TGM3 p.Asp645Asn Uncertain significance Single submitter
- TGM3 p.Gln157Arg Uncertain significance Single submitter
- TGM3 p.Gln381Pro Uncertain significance Single submitter
- TGM3 p.Gln39Arg Uncertain significance Single submitter
- TGM3 p.Gln448Lys Uncertain significance Single submitter
- TGM3 p.Glu158Lys Uncertain significance Single submitter
- TGM3 p.Glu561Gly Uncertain significance Single submitter
- TGM3 p.Glu581Asp Uncertain significance Single submitter
- TGM3 p.Glu583Gln Uncertain significance Single submitter
- TGM3 p.Gly161Ser Uncertain significance Single submitter
- TGM3 p.Gly239Ser Uncertain significance Single submitter
- TGM3 p.Gly344Ser Uncertain significance Single submitter
- TGM3 p.Gly368Ser Uncertain significance Single submitter
- TGM3 p.Gly485Arg Uncertain significance Single submitter
- TGM3 p.Gly654Glu Uncertain significance Single submitter
- TGM3 p.Gly79Asp Uncertain significance Single submitter
- TGM3 p.His532Arg Uncertain significance Single submitter
- TGM3 p.His551Gln Uncertain significance Single submitter
- TGM3 p.Ile108Thr Uncertain significance Single submitter
- TGM3 p.Ile163Thr Uncertain significance Single submitter
- TGM3 p.Ile423Phe Uncertain significance Single submitter
- TGM3 p.Ile57Val Uncertain significance Single submitter
- TGM3 p.Ile98Asn Uncertain significance Single submitter
- TGM3 p.Leu41Phe Uncertain significance Single submitter
- TGM3 p.Leu487Pro Uncertain significance Single submitter
- TGM3 p.Leu504Val Uncertain significance Single submitter
- TGM3 p.Leu505Ile Uncertain significance Single submitter
- TGM3 p.Leu687Phe Uncertain significance Single submitter
- TGM3 p.Lys262Ile Uncertain significance Single submitter
- TGM3 p.Lys554Asn Uncertain significance Single submitter
- TGM3 p.Lys565Asn Uncertain significance Single submitter
- TGM3 p.Lys652Arg Uncertain significance Single submitter
- TGM3 p.Met113Val Uncertain significance Single submitter
- TGM3 p.Met316Thr Uncertain significance Single submitter
- TGM3 p.Met434Leu Uncertain significance Single submitter
- TGM3 p.Met492Leu Uncertain significance Single submitter
- TGM3 p.Pro357Ala Uncertain significance Single submitter
- TGM3 p.Pro357Leu Uncertain significance Single submitter
- TGM3 p.Pro481Thr Uncertain significance Single submitter
- TGM3 p.Pro610Ser Uncertain significance Single submitter
- TGM3 p.Pro663Leu Uncertain significance Single submitter
- TGM3 p.Ser167Asn Uncertain significance Single submitter
- TGM3 p.Ser221Asn Uncertain significance Single submitter
- TGM3 p.Ser238Asn Uncertain significance Single submitter
- TGM3 p.Ser26Thr Uncertain significance Single submitter
- TGM3 p.Ser346Leu Uncertain significance Single submitter
- TGM3 p.Ser50Phe Uncertain significance Single submitter
- TGM3 p.Ser542Thr Uncertain significance Single submitter
- TGM3 p.Ser582Thr Uncertain significance Single submitter
- TGM3 p.Ser664Ala Uncertain significance Single submitter
- TGM3 p.Ser666Asn Uncertain significance Single submitter
- TGM3 p.Thr130Met Uncertain significance Single submitter
- TGM3 p.Thr418Asn Uncertain significance Single submitter
- TGM3 p.Thr464Met Uncertain significance Single submitter
- TGM3 p.Thr514Ala Uncertain significance Single submitter
- TGM3 p.Trp328Arg Uncertain significance Single submitter
- TGM3 p.Trp350Gly Uncertain significance Single submitter
- TGM3 p.Trp400Arg Uncertain significance Single submitter
- TGM3 p.Val126Met Uncertain significance Single submitter
- TGM3 p.Val216Ile Uncertain significance Single submitter
- TGM3 p.Val414Leu Uncertain significance Single submitter
- TGM3 p.Val629Met Uncertain significance Single submitter
-
TGM3 p.Arg656Trp
Uncertain significance
No assertion criteria
TGM3-related disorder
Predictors split 14
The independent predictors disagree with each other — read with care.
- TGM3 p.Arg110Trp Likely benign Single submitter
- TGM3 p.Arg33Gln Uncertain significance Single submitter
- TGM3 p.Arg433Leu Uncertain significance Single submitter
- TGM3 p.Arg588Trp Uncertain significance Single submitter
- TGM3 p.Asn527Lys Uncertain significance Single submitter
- TGM3 p.Asp212Glu Uncertain significance Single submitter
- TGM3 p.Cys576Tyr Uncertain significance Single submitter
- TGM3 p.Glu255Val Uncertain significance Single submitter
- TGM3 p.Gly344Asp Uncertain significance Single submitter
- TGM3 p.Gly636Ser Uncertain significance Single submitter
- TGM3 p.Lys684Glu Uncertain significance Single submitter
- TGM3 p.Met223Val Uncertain significance Single submitter
- TGM3 p.Ser263Tyr Uncertain significance Single submitter
-
TGM3 p.Arg665Trp
Benign
No assertion criteria
TGM3-related disorder
All TGM3 variants
Pathogenic 1
- p.Gln451Ter No assertion criteria uncombable hair syndrome 2
Benign 14
- c.1642+5C>T Multiple submitters
- p.Ala468Val Multiple submitters
- p.Arg305= Multiple submitters
- p.Asn527= Multiple submitters
- p.Gly650Glu Multiple submitters
- c.1642+6G>A Single submitter
- c.1801-5C>A Single submitter
- p.Ile484= Single submitter
- p.Pro345= Single submitter
- c.1801-6C>A No assertion criteria TGM3-related disorder
- p.Arg665Trp No assertion criteria TGM3-related disorder ⚠
- p.Ile163Leu No assertion criteria TGM3-related disorder
- p.Ser249Asn No assertion criteria TGM3-related disorder
- p.Thr13Lys No assertion criteria TGM3-related disorder
Likely benign 26
- p.Ala468= Single submitter
- p.Arg110Trp Single submitter ⚠
- p.Arg608Gln Single submitter
- p.Asn612= Single submitter
- p.Asp184Gly Single submitter
- p.Asp645= Single submitter
- p.Cys628= Single submitter
- p.Glu480= Single submitter
- p.His149= Single submitter
- p.Ile572Thr Single submitter
- p.Leu638= Single submitter
- p.Met541Ile Single submitter
- p.Ser471= Single submitter
- p.Thr242= Single submitter
- p.Tyr557= Single submitter
- p.Val126Leu Single submitter
- c.670-3C>T No assertion criteria TGM3-related disorder
- c.847+4C>T No assertion criteria TGM3-related disorder
- p.Ala14Gly No assertion criteria TGM3-related disorder
- p.Ala427= No assertion criteria TGM3-related disorder
- p.Ala673Val No assertion criteria TGM3-related disorder
- p.Gln670= No assertion criteria TGM3-related disorder
- p.Leu401= No assertion criteria TGM3-related disorder
- p.Ser26= No assertion criteria TGM3-related disorder
- p.Thr529= No assertion criteria TGM3-related disorder
- p.Tyr313= No assertion criteria TGM3-related disorder
Uncertain significance 122
- p.Ala150Thr Single submitter ⚠
- p.Ala208Thr Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala370Thr Single submitter ⚠
- p.Ala391Ser Single submitter ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala456Gly Single submitter
- p.Ala456Pro Single submitter ⚠
- p.Ala467Val Single submitter ⚠
- p.Ala521Val Single submitter
- p.Ala558Thr Single submitter ⚠
- p.Ala558Val Single submitter ⚠
- p.Ala574Gly Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Arg200His Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg292Trp Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg33Gln Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg340Lys Single submitter ⚠
- p.Arg376Gln Single submitter ⚠
- p.Arg397Cys Single submitter ⚠
- p.Arg397Leu Single submitter ⚠
- p.Arg433Cys Single submitter ⚠
- p.Arg433Leu Single submitter ⚠
- p.Arg571Gln Single submitter ⚠
- p.Arg571Trp Single submitter ⚠
- p.Arg588Gln Single submitter ⚠
- p.Arg588Trp Single submitter ⚠
- p.Arg658Gly Single submitter ⚠
- p.Arg658His Single submitter ⚠
- p.Asn10Ser Single submitter ⚠
- p.Asn169His Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn225Ser Single submitter ⚠
- p.Asn318Lys Single submitter ⚠
- p.Asn383Ser Single submitter ⚠
- p.Asn415Ser Single submitter ⚠
- p.Asn527Lys Single submitter ⚠
- p.Asp212Glu Single submitter ⚠
- p.Asp23Ala Single submitter ⚠
- p.Asp396Tyr Single submitter ⚠
- p.Asp544Asn Single submitter ⚠
- p.Asp645Asn Single submitter ⚠
- p.Asp674Tyr Single submitter
- p.Cys576Tyr Single submitter ⚠
- p.Gln157Arg Single submitter ⚠
- p.Gln381Pro Single submitter ⚠
- p.Gln39Arg Single submitter ⚠
- p.Gln448Lys Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu255Val Single submitter ⚠
- p.Glu561Gly Single submitter ⚠
- p.Glu581Asp Single submitter ⚠
- p.Glu583Gln Single submitter ⚠
- p.Gly161Ser Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Gly344Asp Single submitter ⚠
- p.Gly344Ser Single submitter ⚠
- p.Gly368Ser Single submitter ⚠
- p.Gly485Arg Single submitter ⚠
- p.Gly528Ser Single submitter
- p.Gly636Ser Single submitter ⚠
- p.Gly654Glu Single submitter ⚠
- p.Gly79Asp Single submitter ⚠
- p.His532Arg Single submitter ⚠
- p.His551Gln Single submitter ⚠
- p.Ile108Thr Single submitter ⚠
- p.Ile163Thr Single submitter ⚠
- p.Ile423Phe Single submitter ⚠
- p.Ile57Val Single submitter ⚠
- p.Ile98Asn Single submitter ⚠
- p.Leu41Phe Single submitter ⚠
- p.Leu487Pro Single submitter ⚠
- p.Leu504Val Single submitter ⚠
- p.Leu505Ile Single submitter ⚠
- p.Leu687Phe Single submitter ⚠
- p.Lys262Ile Single submitter ⚠
- p.Lys554Asn Single submitter ⚠
- p.Lys565Asn Single submitter ⚠
- p.Lys652Arg Single submitter ⚠
- p.Lys684Glu Single submitter ⚠
- p.Met113Val Single submitter ⚠
- p.Met223Val Single submitter ⚠
- p.Met316Thr Single submitter ⚠
- p.Met434Leu Single submitter ⚠
- p.Met492Leu Single submitter ⚠
- p.Pro357Ala Single submitter ⚠
- p.Pro357Leu Single submitter ⚠
- p.Pro481Thr Single submitter ⚠
- p.Pro610Ser Single submitter ⚠
- p.Pro663Leu Single submitter ⚠
- p.Ser167Asn Single submitter ⚠
- p.Ser221Asn Single submitter ⚠
- p.Ser238Asn Single submitter ⚠
- p.Ser263Tyr Single submitter ⚠
- p.Ser26Thr Single submitter ⚠
- p.Ser346Leu Single submitter ⚠
- p.Ser50Phe Single submitter ⚠
- p.Ser542Thr Single submitter ⚠
- p.Ser582Thr Single submitter ⚠
- p.Ser664Ala Single submitter ⚠
- p.Ser666Asn Single submitter ⚠
- p.Ser676Phe Single submitter
- p.Thr130Met Single submitter ⚠
- p.Thr418Asn Single submitter ⚠
- p.Thr464Met Single submitter ⚠
- p.Thr514Ala Single submitter ⚠
- p.Thr70Met Single submitter
- p.Trp328Arg Single submitter ⚠
- p.Trp350Gly Single submitter ⚠
- p.Trp400Arg Single submitter ⚠
- p.Val126Met Single submitter ⚠
- p.Val216Ile Single submitter ⚠
- p.Val414Leu Single submitter ⚠
- p.Val629Met Single submitter ⚠
- p.Arg656Trp No assertion criteria TGM3-related disorder ⚠
- p.Val293Leu No assertion criteria TGM3-related disorder