MTREX — 102 ClinVar variants
All ClinVar germline MTREX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
1 Benign · 4 Likely benign · 97 Uncertain significance
Full MTREX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MTREX p.Ala247Pro Uncertain significance Single submitter
- MTREX p.Ala93Thr Uncertain significance Single submitter
- MTREX p.Ala974Thr Uncertain significance Single submitter
- MTREX p.Arg128Gln Uncertain significance Single submitter
- MTREX p.Arg184Cys Uncertain significance Single submitter
- MTREX p.Arg575Cys Uncertain significance Single submitter
- MTREX p.Arg701Cys Uncertain significance Single submitter
- MTREX p.Arg854His Uncertain significance Single submitter
- MTREX p.Arg999His Uncertain significance Single submitter
- MTREX p.Asn568Asp Uncertain significance Single submitter
- MTREX p.Asn58His Uncertain significance Single submitter
- MTREX p.Asn686Asp Uncertain significance Single submitter
- MTREX p.Asn811Ser Uncertain significance Single submitter
- MTREX p.Asn814Ser Uncertain significance Single submitter
- MTREX p.Asp410Gly Uncertain significance Single submitter
- MTREX p.Asp433Asn Uncertain significance Single submitter
- MTREX p.Asp667Tyr Uncertain significance Single submitter
- MTREX p.Asp94Glu Uncertain significance Single submitter
- MTREX p.Asp94Gly Uncertain significance Single submitter
- MTREX p.Asp987Glu Uncertain significance Single submitter
- MTREX p.Cys297Phe Uncertain significance Single submitter
- MTREX p.Gln767Glu Uncertain significance Single submitter
- MTREX p.Glu1020Ala Uncertain significance Single submitter
- MTREX p.Glu181Gln Uncertain significance Single submitter
- MTREX p.Glu55Lys Uncertain significance Single submitter
- MTREX p.Glu689Asp Uncertain significance Single submitter
- MTREX p.Glu955Val Uncertain significance Single submitter
- MTREX p.Gly45Arg Uncertain significance Single submitter
- MTREX p.Gly666Arg Uncertain significance Single submitter
- MTREX p.Gly724Arg Uncertain significance Single submitter
- MTREX p.His278Arg Uncertain significance Single submitter
- MTREX p.His300Arg Uncertain significance Single submitter
-
MTREX p.His594Arg
Uncertain significance
Single submitter
Marfanoid habitus and intellectual disability
- MTREX p.His981Arg Uncertain significance Single submitter
- MTREX p.Ile625Thr Uncertain significance Single submitter
- MTREX p.Ile739Val Uncertain significance Single submitter
- MTREX p.Ile763Thr Uncertain significance Single submitter
- MTREX p.Ile763Val Uncertain significance Single submitter
- MTREX p.Ile774Met Uncertain significance Single submitter
- MTREX p.Ile942Thr Uncertain significance Single submitter
- MTREX p.Ile942Val Uncertain significance Single submitter
- MTREX p.Ile982Met Uncertain significance Single submitter
- MTREX p.Ile982Val Uncertain significance Single submitter
- MTREX p.Leu700Met Uncertain significance Single submitter
- MTREX p.Lys358Arg Uncertain significance Single submitter
- MTREX p.Lys449Arg Uncertain significance Single submitter
- MTREX p.Lys635Arg Uncertain significance Single submitter
- MTREX p.Lys791Arg Uncertain significance Single submitter
- MTREX p.Lys950Ile Uncertain significance Single submitter
- MTREX p.Met382Thr Uncertain significance Single submitter
- MTREX p.Met419Val Uncertain significance Single submitter
- MTREX p.Met921Ile Uncertain significance Single submitter
- MTREX p.Pro685Arg Uncertain significance Single submitter
- MTREX p.Pro808Ala Uncertain significance Single submitter
- MTREX p.Pro80Leu Uncertain significance Single submitter
- MTREX p.Ser425Gly Uncertain significance Single submitter
- MTREX p.Ser703Gly Uncertain significance Single submitter
- MTREX p.Ser866Thr Uncertain significance Single submitter
- MTREX p.Thr546Ala Uncertain significance Single submitter
- MTREX p.Thr57Ala Uncertain significance Single submitter
- MTREX p.Tyr583Asp Uncertain significance Single submitter
- MTREX p.Val107Ile Uncertain significance Single submitter
- MTREX p.Val496Ile Uncertain significance Single submitter
- MTREX p.Val616Leu Uncertain significance Single submitter
- MTREX p.Val66Ile Uncertain significance Single submitter
- MTREX p.Val66Leu Uncertain significance Single submitter
- MTREX p.Val696Leu Uncertain significance Single submitter
- MTREX p.Val753Met Uncertain significance Single submitter
- MTREX p.Val913Leu Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- MTREX p.Arg290Gln Uncertain significance Single submitter
- MTREX p.Arg364Gln Uncertain significance Single submitter
- MTREX p.Arg364Trp Uncertain significance Single submitter
- MTREX p.Arg751Gln Uncertain significance Single submitter
- MTREX p.Asn568Ser Uncertain significance Single submitter
- MTREX p.Asn811Tyr Uncertain significance Single submitter
- MTREX p.Asn898Ser Uncertain significance Single submitter
- MTREX p.Asp1033Glu Uncertain significance Single submitter
- MTREX p.Asp433Gly Uncertain significance Single submitter
- MTREX p.Glu722Gly Uncertain significance Single submitter
- MTREX p.Lys301Glu Uncertain significance Single submitter
- MTREX p.Lys940Glu Uncertain significance Single submitter
- MTREX p.Lys940Thr Uncertain significance Single submitter
- MTREX p.Met380Arg Uncertain significance Single submitter
- MTREX p.Met921Lys Uncertain significance Single submitter
- MTREX p.Met935Ile Uncertain significance Single submitter
- MTREX p.Pro922Ser Uncertain significance Single submitter
- MTREX p.Ser622Arg Uncertain significance Single submitter
- MTREX p.Tyr122Cys Uncertain significance Single submitter
- MTREX p.Tyr279His Uncertain significance Single submitter
- MTREX p.Val104Gly Uncertain significance Single submitter
- MTREX p.Val114Ala Uncertain significance Single submitter
- MTREX p.Val378Leu Uncertain significance Single submitter
All MTREX variants
Benign 1
- p.Gln786= Single submitter
Likely benign 4
- p.Arg47His Single submitter
- p.Arg494= Single submitter
- p.Asn664= Single submitter
- p.Ile86Val Single submitter
Uncertain significance 97
- p.Ala247Pro Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Ala974Thr Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg364Trp Single submitter ⚠
- p.Arg575Cys Single submitter ⚠
- p.Arg701Cys Single submitter ⚠
- p.Arg751Gln Single submitter ⚠
- p.Arg854His Single submitter ⚠
- p.Arg999His Single submitter ⚠
- p.Asn568Asp Single submitter ⚠
- p.Asn568Ser Single submitter ⚠
- p.Asn58His Single submitter ⚠
- p.Asn686Asp Single submitter ⚠
- p.Asn811Ser Single submitter ⚠
- p.Asn811Tyr Single submitter ⚠
- p.Asn814Ser Single submitter ⚠
- p.Asn898Ser Single submitter ⚠
- p.Asp1033Glu Single submitter ⚠
- p.Asp410Gly Single submitter ⚠
- p.Asp433Asn Single submitter ⚠
- p.Asp433Gly Single submitter ⚠
- p.Asp667Tyr Single submitter ⚠
- p.Asp94Glu Single submitter ⚠
- p.Asp94Gly Single submitter ⚠
- p.Asp987Glu Single submitter ⚠
- p.Cys297Phe Single submitter ⚠
- p.Gln767Glu Single submitter ⚠
- p.Glu1020Ala Single submitter ⚠
- p.Glu181Gln Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Glu689Asp Single submitter ⚠
- p.Glu722Gly Single submitter ⚠
- p.Glu955Val Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.Gly666Arg Single submitter ⚠
- p.Gly724Arg Single submitter ⚠
- p.His278Arg Single submitter ⚠
- p.His300Arg Single submitter ⚠
- p.His594Arg Single submitter Marfanoid habitus and intellectual disability ⚠
- p.His981Arg Single submitter ⚠
- p.Ile270Met Single submitter
- p.Ile286Val Single submitter
- p.Ile536Val Single submitter
- p.Ile625Thr Single submitter ⚠
- p.Ile739Val Single submitter ⚠
- p.Ile763Thr Single submitter ⚠
- p.Ile763Val Single submitter ⚠
- p.Ile774Met Single submitter ⚠
- p.Ile942Thr Single submitter ⚠
- p.Ile942Val Single submitter ⚠
- p.Ile982Met Single submitter ⚠
- p.Ile982Val Single submitter ⚠
- p.Leu700Met Single submitter ⚠
- p.Lys301Glu Single submitter ⚠
- p.Lys358Arg Single submitter ⚠
- p.Lys449Arg Single submitter ⚠
- p.Lys635Arg Single submitter ⚠
- p.Lys791Arg Single submitter ⚠
- p.Lys940Glu Single submitter ⚠
- p.Lys940Thr Single submitter ⚠
- p.Lys950Ile Single submitter ⚠
- p.Met380Arg Single submitter ⚠
- p.Met382Thr Single submitter ⚠
- p.Met419Val Single submitter ⚠
- p.Met921Ile Single submitter ⚠
- p.Met921Lys Single submitter ⚠
- p.Met935Ile Single submitter ⚠
- p.Pro137Leu Single submitter
- p.Pro685Arg Single submitter ⚠
- p.Pro808Ala Single submitter ⚠
- p.Pro80Leu Single submitter ⚠
- p.Pro922Ser Single submitter ⚠
- p.Ser425Gly Single submitter ⚠
- p.Ser622Arg Single submitter ⚠
- p.Ser703Gly Single submitter ⚠
- p.Ser866Thr Single submitter ⚠
- p.Thr546Ala Single submitter ⚠
- p.Thr57Ala Single submitter ⚠
- p.Tyr122Cys Single submitter ⚠
- p.Tyr279His Single submitter ⚠
- p.Tyr583Asp Single submitter ⚠
- p.Tyr819Cys Single submitter
- p.Val104Gly Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val114Ala Single submitter ⚠
- p.Val378Leu Single submitter ⚠
- p.Val496Ile Single submitter ⚠
- p.Val616Leu Single submitter ⚠
- p.Val66Ile Single submitter ⚠
- p.Val66Leu Single submitter ⚠
- p.Val696Leu Single submitter ⚠
- p.Val753Met Single submitter ⚠
- p.Val913Leu Single submitter ⚠