UFM1 — 46 ClinVar variants
All ClinVar germline UFM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Benign · 1 Benign/Likely benign · 17 Likely benign · 20 Uncertain significance
Full UFM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UFM1 p.Arg75Trp Uncertain significance Multiple submitters
- UFM1 p.Gly54Glu Uncertain significance Multiple submitters
- UFM1 p.Arg81His Uncertain significance Single submitter
- UFM1 p.Gly64Ala Uncertain significance Single submitter
- UFM1 p.Gly71Arg Uncertain significance Single submitter
- UFM1 p.Ile49Leu Uncertain significance Single submitter
- UFM1 p.Pro59Thr Uncertain significance Single submitter
- UFM1 p.Thr30Pro Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
-
UFM1 p.Ser47Asn
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 14
- UFM1 p.Arg75Gln Uncertain significance Single submitter
All UFM1 variants
Pathogenic/Likely pathogenic 1
- c.-273_-271del Multiple submitters leukodystrophy, hypomyelinating, 14
Likely pathogenic 3
- p.Arg81Cys Multiple submitters leukodystrophy, hypomyelinating, 14
- p.Met1Val Single submitter leukodystrophy, hypomyelinating, 14
- c.2+1G>A No assertion criteria familial long QT syndrome
Benign 4
- c.2+25A>T Multiple submitters leukodystrophy, hypomyelinating, 14
- c.59+71T>C Multiple submitters
- c.157+15del Single submitter
- c.190+44T>C Single submitter
Benign/Likely benign 1
- c.118-20T>A Multiple submitters leukodystrophy, hypomyelinating, 14
Likely benign 17
- c.59+104C>T Multiple submitters
- c.59+190A>G Multiple submitters
- c.118-18T>A Single submitter
- c.118-19T>A Single submitter
- c.190+20_190+21del Single submitter
- c.191-4A>G Single submitter
- c.59+131C>T Single submitter
- c.59+71T>G Single submitter
- c.59+77A>G Single submitter
- c.59+82C>G Single submitter
- p.Ala60= Single submitter
- p.Glu25= Single submitter
- p.Phe40= Single submitter
- p.Pro17= Single submitter
- p.Thr46= Single submitter
- c.2+4A>C No assertion criteria UFM1-related disorder
- p.Pro17Leu No assertion criteria UFM1-related disorder
Uncertain significance 20
- p.Arg75Trp Multiple submitters ⚠
- p.Gly54Glu Multiple submitters ⚠
- p.Ser47Asn Multiple submitters leukodystrophy, hypomyelinating, 14 ⚠
- c.59+109C>T Single submitter
- c.59+112C>T Single submitter
- c.59+121dup Single submitter
- c.59+126del Single submitter
- c.59+129C>T Single submitter
- c.59+69G>A Single submitter
- c.59+75C>T Single submitter
- c.59+90C>G Single submitter
- c.59+93A>C Single submitter
- c.59+99C>T Single submitter
- p.Arg75Gln Single submitter ⚠
- p.Arg81His Single submitter ⚠
- p.Gly64Ala Single submitter ⚠
- p.Gly71Arg Single submitter ⚠
- p.Ile49Leu Single submitter ⚠
- p.Pro59Thr Single submitter ⚠
- p.Thr30Pro Single submitter ⚠