JMJD7 — 25 ClinVar variants
All ClinVar germline JMJD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
1 Conflicting · 3 Benign · 3 Likely benign · 18 Uncertain significance
Full JMJD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- JMJD7 p.Ala258Val Uncertain significance Single submitter
- JMJD7 p.Ala287Thr Uncertain significance Single submitter
- JMJD7 p.Gln281Arg Uncertain significance Single submitter
- JMJD7 p.Glu22Asp Uncertain significance Single submitter
- JMJD7 p.Gly266Asp Uncertain significance Single submitter
- JMJD7 p.His277Tyr Uncertain significance Single submitter
- JMJD7 p.Leu305Val Uncertain significance Single submitter
- JMJD7 p.Leu309Val Uncertain significance Single submitter
- JMJD7 p.Pro272Leu Uncertain significance Single submitter
- JMJD7 p.Tyr302Asn Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All JMJD7 variants
Conflicting classifications of pathogenicity 1
- p.Pro17Leu Single submitter ⚠
Benign 3
- p.Ala28Gly Multiple submitters
- p.Leu157= Single submitter
- p.Pro51= No assertion criteria JMJD7-related disorder
Likely benign 3
- c.-5C>A No assertion criteria JMJD7-related disorder
- p.Ala91= No assertion criteria JMJD7-related disorder
- p.Arg260His No assertion criteria JMJD7-related disorder
Uncertain significance 18
- p.Ala258Val Single submitter ⚠
- p.Ala287Thr Single submitter ⚠
- p.Asp246Glu Single submitter ⚠
- p.Asp246His Single submitter
- p.Asp307Tyr Single submitter
- p.Gln281Arg Single submitter ⚠
- p.Glu22Asp Single submitter ⚠
- p.Gly266Asp Single submitter ⚠
- p.His277Tyr Single submitter ⚠
- p.Ile238Met Single submitter
- p.Leu269Val Single submitter
- p.Leu305Val Single submitter ⚠
- p.Leu309Val Single submitter ⚠
- p.Pro140Ser Single submitter ⚠
- p.Pro272Leu Single submitter ⚠
- p.Tyr302Asn Single submitter ⚠
- p.Val115Met Single submitter ⚠
- p.Val279Ile Single submitter ⚠