CHML — 109 ClinVar variants
All ClinVar germline CHML variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
11 Likely benign · 98 Uncertain significance
Full CHML gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHML p.Ala105Thr Uncertain significance Single submitter
- CHML p.Ala105Val Uncertain significance Single submitter
- CHML p.Ala267Pro Uncertain significance Single submitter
- CHML p.Ala26Pro Uncertain significance Single submitter
- CHML p.Ala2Val Uncertain significance Single submitter
- CHML p.Ala627Thr Uncertain significance Single submitter
- CHML p.Ala636Gly Uncertain significance Single submitter
- CHML p.Arg403Pro Uncertain significance Single submitter
- CHML p.Arg456Thr Uncertain significance Single submitter
- CHML p.Asn261Thr Uncertain significance Single submitter
- CHML p.Asn46Ser Uncertain significance Single submitter
- CHML p.Asp151Asn Uncertain significance Single submitter
- CHML p.Asp197Val Uncertain significance Single submitter
- CHML p.Asp252Gly Uncertain significance Single submitter
- CHML p.Asp423Asn Uncertain significance Single submitter
- CHML p.Asp462His Uncertain significance Single submitter
- CHML p.Cys495Ser Uncertain significance Single submitter
- CHML p.Gln382Pro Uncertain significance Single submitter
- CHML p.Glu152Lys Uncertain significance Single submitter
- CHML p.Glu535Gly Uncertain significance Single submitter
- CHML p.Gly126Glu Uncertain significance Single submitter
- CHML p.Gly356Asp Uncertain significance Single submitter
- CHML p.Gly368Arg Uncertain significance Single submitter
- CHML p.Gly388Val Uncertain significance Single submitter
- CHML p.His36Tyr Uncertain significance Single submitter
- CHML p.His404Arg Uncertain significance Single submitter
- CHML p.Ile14Val Uncertain significance Single submitter
- CHML p.Ile213Val Uncertain significance Single submitter
- CHML p.Ile465Val Uncertain significance Single submitter
- CHML p.Ile538Val Uncertain significance Single submitter
- CHML p.Ile68Thr Uncertain significance Single submitter
- CHML p.Ile87Val Uncertain significance Single submitter
- CHML p.Ile96Leu Uncertain significance Single submitter
- CHML p.Ile96Val Uncertain significance Single submitter
- CHML p.Leu470Ile Uncertain significance Single submitter
- CHML p.Leu543Val Uncertain significance Single submitter
- CHML p.Leu647Val Uncertain significance Single submitter
- CHML p.Lys156Glu Uncertain significance Single submitter
- CHML p.Lys178Thr Uncertain significance Single submitter
- CHML p.Lys185Glu Uncertain significance Single submitter
- CHML p.Lys194Glu Uncertain significance Single submitter
- CHML p.Lys405Glu Uncertain significance Single submitter
- CHML p.Met392Ile Uncertain significance Single submitter
- CHML p.Met502Leu Uncertain significance Single submitter
- CHML p.Phe300Cys Uncertain significance Single submitter
- CHML p.Phe363Val Uncertain significance Single submitter
- CHML p.Phe370Leu Uncertain significance Single submitter
- CHML p.Phe375Ser Uncertain significance Single submitter
- CHML p.Phe377Tyr Uncertain significance Single submitter
- CHML p.Pro532Leu Uncertain significance Single submitter
- CHML p.Ser143Gly Uncertain significance Single submitter
- CHML p.Ser560Leu Uncertain significance Single submitter
- CHML p.Thr353Ala Uncertain significance Single submitter
- CHML p.Thr500Arg Uncertain significance Single submitter
- CHML p.Thr95Ser Uncertain significance Single submitter
- CHML p.Trp47Arg Uncertain significance Single submitter
- CHML p.Tyr533His Uncertain significance Single submitter
- CHML p.Val172Ile Uncertain significance Single submitter
- CHML p.Val449Leu Uncertain significance Single submitter
- CHML p.Val479Leu Uncertain significance Single submitter
- CHML p.Val491Asp Uncertain significance Single submitter
- CHML p.Val526Glu Uncertain significance Single submitter
- CHML p.Val576Asp Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- CHML p.Ala24Gly Uncertain significance Single submitter
- CHML p.Arg255Cys Uncertain significance Single submitter
- CHML p.Arg255His Uncertain significance Single submitter
- CHML p.Arg269Gln Uncertain significance Single submitter
- CHML p.Arg369Gln Uncertain significance Single submitter
- CHML p.Arg403Cys Uncertain significance Single submitter
- CHML p.Arg403His Uncertain significance Single submitter
- CHML p.Arg490Gln Uncertain significance Single submitter
- CHML p.Arg90His Likely benign Single submitter
- CHML p.Asp199His Uncertain significance Single submitter
- CHML p.Asp412Asn Uncertain significance Single submitter
- CHML p.Cys351Tyr Uncertain significance Single submitter
- CHML p.Cys495Tyr Uncertain significance Single submitter
- CHML p.Cys512Arg Uncertain significance Single submitter
- CHML p.Gln382Lys Uncertain significance Single submitter
- CHML p.Gln407Arg Uncertain significance Single submitter
- CHML p.Gln592Lys Uncertain significance Single submitter
- CHML p.Glu614Gly Uncertain significance Single submitter
- CHML p.His189Tyr Uncertain significance Single submitter
- CHML p.His337Arg Uncertain significance Single submitter
- CHML p.Ile249Val Uncertain significance Single submitter
- CHML p.Ile478Met Uncertain significance Single submitter
- CHML p.Leu654Phe Uncertain significance Single submitter
- CHML p.Lys361Glu Uncertain significance Single submitter
- CHML p.Lys503Thr Uncertain significance Single submitter
- CHML p.Met345Val Uncertain significance Single submitter
- CHML p.Pro480Leu Uncertain significance Single submitter
- CHML p.Pro481Ala Uncertain significance Single submitter
- CHML p.Ser415Cys Uncertain significance Single submitter
- CHML p.Ser415Phe Uncertain significance Single submitter
- CHML p.Ser439Asn Uncertain significance Single submitter
- CHML p.Ser447Leu Uncertain significance Single submitter
- CHML p.Ser578Phe Uncertain significance Single submitter
- CHML p.Thr263Ile Uncertain significance Single submitter
- CHML p.Thr99Arg Uncertain significance Single submitter
- CHML p.Tyr506Cys Uncertain significance Single submitter
All CHML variants
Likely benign 11
- p.Ala482Val Single submitter
- p.Ala627Ser Single submitter
- p.Arg90His Single submitter ⚠
- p.Asn129Ser Single submitter
- p.Asn66Ser Single submitter
- p.Asp210Asn Single submitter
- p.Glu540Lys Single submitter
- p.Ile116Thr Single submitter
- p.Val113Ile Single submitter
- p.Val339Ile Single submitter
- p.Val634Ile Single submitter
Uncertain significance 98
- p.Ala105Thr Single submitter ⚠
- p.Ala105Val Single submitter ⚠
- p.Ala24Gly Single submitter ⚠
- p.Ala267Pro Single submitter ⚠
- p.Ala26Pro Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala627Thr Single submitter ⚠
- p.Ala636Gly Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg255His Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg369Gln Single submitter ⚠
- p.Arg403Cys Single submitter ⚠
- p.Arg403His Single submitter ⚠
- p.Arg403Pro Single submitter ⚠
- p.Arg456Thr Single submitter ⚠
- p.Arg490Gln Single submitter ⚠
- p.Asn261Thr Single submitter ⚠
- p.Asn46Ser Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Asp197Val Single submitter ⚠
- p.Asp199His Single submitter ⚠
- p.Asp252Gly Single submitter ⚠
- p.Asp412Asn Single submitter ⚠
- p.Asp423Asn Single submitter ⚠
- p.Asp462His Single submitter ⚠
- p.Cys351Tyr Single submitter ⚠
- p.Cys495Ser Single submitter ⚠
- p.Cys495Tyr Single submitter ⚠
- p.Cys512Arg Single submitter ⚠
- p.Gln382Lys Single submitter ⚠
- p.Gln382Pro Single submitter ⚠
- p.Gln407Arg Single submitter ⚠
- p.Gln592Lys Single submitter ⚠
- p.Glu152Lys Single submitter ⚠
- p.Glu535Gly Single submitter ⚠
- p.Glu614Gly Single submitter ⚠
- p.Gly126Glu Single submitter ⚠
- p.Gly356Asp Single submitter ⚠
- p.Gly368Arg Single submitter ⚠
- p.Gly388Val Single submitter ⚠
- p.His189Tyr Single submitter ⚠
- p.His337Arg Single submitter ⚠
- p.His36Tyr Single submitter ⚠
- p.His404Arg Single submitter ⚠
- p.Ile14Val Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile249Val Single submitter ⚠
- p.Ile465Val Single submitter ⚠
- p.Ile478Met Single submitter ⚠
- p.Ile538Val Single submitter ⚠
- p.Ile68Thr Single submitter ⚠
- p.Ile87Val Single submitter ⚠
- p.Ile96Leu Single submitter ⚠
- p.Ile96Val Single submitter ⚠
- p.Leu470Ile Single submitter ⚠
- p.Leu543Val Single submitter ⚠
- p.Leu647Val Single submitter ⚠
- p.Leu654Phe Single submitter ⚠
- p.Lys156Glu Single submitter ⚠
- p.Lys178Thr Single submitter ⚠
- p.Lys185Glu Single submitter ⚠
- p.Lys194Glu Single submitter ⚠
- p.Lys361Glu Single submitter ⚠
- p.Lys405Glu Single submitter ⚠
- p.Lys503Thr Single submitter ⚠
- p.Met345Val Single submitter ⚠
- p.Met392Ile Single submitter ⚠
- p.Met502Leu Single submitter ⚠
- p.Phe300Cys Single submitter ⚠
- p.Phe363Val Single submitter ⚠
- p.Phe370Leu Single submitter ⚠
- p.Phe375Ser Single submitter ⚠
- p.Phe377Tyr Single submitter ⚠
- p.Pro480Leu Single submitter ⚠
- p.Pro481Ala Single submitter ⚠
- p.Pro532Leu Single submitter ⚠
- p.Ser143Gly Single submitter ⚠
- p.Ser415Cys Single submitter ⚠
- p.Ser415Phe Single submitter ⚠
- p.Ser439Asn Single submitter ⚠
- p.Ser447Leu Single submitter ⚠
- p.Ser560Leu Single submitter ⚠
- p.Ser578Phe Single submitter ⚠
- p.Thr263Ile Single submitter ⚠
- p.Thr353Ala Single submitter ⚠
- p.Thr500Arg Single submitter ⚠
- p.Thr95Ser Single submitter ⚠
- p.Thr99Arg Single submitter ⚠
- p.Trp47Arg Single submitter ⚠
- p.Tyr506Cys Single submitter ⚠
- p.Tyr533His Single submitter ⚠
- p.Val172Ile Single submitter ⚠
- p.Val449Leu Single submitter ⚠
- p.Val479Leu Single submitter ⚠
- p.Val491Asp Single submitter ⚠
- p.Val526Glu Single submitter ⚠
- p.Val576Asp Single submitter ⚠