CHRFAM7A — 45 ClinVar variants
All ClinVar germline CHRFAM7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
4 Likely benign · 41 Uncertain significance
Full CHRFAM7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHRFAM7A p.Arg115Thr Uncertain significance Single submitter
- CHRFAM7A p.Arg264Cys Uncertain significance Single submitter
- CHRFAM7A p.Arg273Cys Uncertain significance Single submitter
- CHRFAM7A p.Asn103Ser Uncertain significance Single submitter
- CHRFAM7A p.Asn291Asp Uncertain significance Single submitter
- CHRFAM7A p.Asp167Gly Uncertain significance Single submitter
- CHRFAM7A p.Cys5Trp Uncertain significance Single submitter
- CHRFAM7A p.Cys74Arg Uncertain significance Single submitter
- CHRFAM7A p.Glu105Lys Uncertain significance Single submitter
- CHRFAM7A p.Glu125Gly Uncertain significance Single submitter
- CHRFAM7A p.Glu362Lys Uncertain significance Single submitter
- CHRFAM7A p.Gly169Arg Uncertain significance Single submitter
- CHRFAM7A p.Gly235Ser Uncertain significance Single submitter
- CHRFAM7A p.Gly259Arg Uncertain significance Single submitter
- CHRFAM7A p.Ile154Met Uncertain significance Single submitter
- CHRFAM7A p.Ile176Leu Uncertain significance Single submitter
- CHRFAM7A p.Ile97Thr Uncertain significance Single submitter
- CHRFAM7A p.Leu174Pro Uncertain significance Single submitter
- CHRFAM7A p.Leu180Phe Uncertain significance Single submitter
- CHRFAM7A p.Leu253Arg Uncertain significance Single submitter
- CHRFAM7A p.Lys57Glu Uncertain significance Single submitter
- CHRFAM7A p.Pro102Ala Uncertain significance Single submitter
- CHRFAM7A p.Pro238Leu Uncertain significance Single submitter
- CHRFAM7A p.Pro258Thr Uncertain significance Single submitter
- CHRFAM7A p.Thr221Met Uncertain significance Single submitter
- CHRFAM7A p.Thr325Met Uncertain significance Single submitter
- CHRFAM7A p.Trp106Ser Uncertain significance Single submitter
- CHRFAM7A p.Val189Met Uncertain significance Single submitter
- CHRFAM7A p.Val214Met Uncertain significance Single submitter
- CHRFAM7A p.Val222Ala Uncertain significance Single submitter
- CHRFAM7A p.Val224Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CHRFAM7A p.Ala158Val Uncertain significance Single submitter
- CHRFAM7A p.Ala208Thr Uncertain significance Single submitter
- CHRFAM7A p.Gly235Asp Uncertain significance Single submitter
- CHRFAM7A p.Gly84Arg Uncertain significance Single submitter
- CHRFAM7A p.Ile154Val Uncertain significance Single submitter
- CHRFAM7A p.Ile192Thr Uncertain significance Single submitter
- CHRFAM7A p.Leu179Ser Uncertain significance Single submitter
- CHRFAM7A p.Pro201Ala Uncertain significance Single submitter
- CHRFAM7A p.Ser199Leu Uncertain significance Single submitter
- CHRFAM7A p.Trp66Ser Uncertain significance Single submitter
All CHRFAM7A variants
Likely benign 4
- p.Arg118Lys Single submitter
- p.Pro128= Single submitter
- p.Ser197= Single submitter
- p.Ser399Leu Single submitter
Uncertain significance 41
- p.Ala158Val Single submitter ⚠
- p.Ala208Thr Single submitter ⚠
- p.Arg115Thr Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn291Asp Single submitter ⚠
- p.Asp167Gly Single submitter ⚠
- p.Cys5Trp Single submitter ⚠
- p.Cys74Arg Single submitter ⚠
- p.Glu105Lys Single submitter ⚠
- p.Glu125Gly Single submitter ⚠
- p.Glu362Lys Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly235Asp Single submitter ⚠
- p.Gly235Ser Single submitter ⚠
- p.Gly259Arg Single submitter ⚠
- p.Gly84Arg Single submitter ⚠
- p.Ile154Met Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile176Leu Single submitter ⚠
- p.Ile192Thr Single submitter ⚠
- p.Ile97Thr Single submitter ⚠
- p.Leu174Pro Single submitter ⚠
- p.Leu179Ser Single submitter ⚠
- p.Leu180Phe Single submitter ⚠
- p.Leu253Arg Single submitter ⚠
- p.Lys57Glu Single submitter ⚠
- p.Pro102Ala Single submitter ⚠
- p.Pro201Ala Single submitter ⚠
- p.Pro238Leu Single submitter ⚠
- p.Pro258Thr Single submitter ⚠
- p.Ser199Leu Single submitter ⚠
- p.Thr221Met Single submitter ⚠
- p.Thr325Met Single submitter ⚠
- p.Trp106Ser Single submitter ⚠
- p.Trp66Ser Single submitter ⚠
- p.Val189Met Single submitter ⚠
- p.Val214Met Single submitter ⚠
- p.Val222Ala Single submitter ⚠
- p.Val224Met Single submitter ⚠