ACSF2 — 87 ClinVar variants
All ClinVar germline ACSF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
3 Likely benign · 84 Uncertain significance
Full ACSF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSF2 p.Ala160Pro Uncertain significance Single submitter
- ACSF2 p.Ala419Thr Uncertain significance Single submitter
- ACSF2 p.Ala571Thr Uncertain significance Single submitter
- ACSF2 p.Arg290His Uncertain significance Single submitter
- ACSF2 p.Arg45Thr Uncertain significance Single submitter
- ACSF2 p.Arg49Cys Uncertain significance Single submitter
- ACSF2 p.Asn337Ser Uncertain significance Single submitter
- ACSF2 p.Asn70Asp Uncertain significance Single submitter
- ACSF2 p.Asn70His Uncertain significance Single submitter
- ACSF2 p.Asp486Asn Uncertain significance Single submitter
- ACSF2 p.Asp48Gly Uncertain significance Single submitter
- ACSF2 p.Asp546Asn Uncertain significance Single submitter
- ACSF2 p.Cys194Tyr Uncertain significance Single submitter
- ACSF2 p.Gln180Glu Uncertain significance Single submitter
- ACSF2 p.Gly516Asp Uncertain significance Single submitter
- ACSF2 p.His311Arg Uncertain significance Single submitter
- ACSF2 p.His420Pro Uncertain significance Single submitter
- ACSF2 p.His612Arg Uncertain significance Single submitter
- ACSF2 p.Ile193Val Uncertain significance Single submitter
- ACSF2 p.Ile286Val Uncertain significance Single submitter
- ACSF2 p.Leu139Pro Uncertain significance Single submitter
- ACSF2 p.Leu305Val Uncertain significance Single submitter
- ACSF2 p.Met161Val Uncertain significance Single submitter
- ACSF2 p.Met50Ile Uncertain significance Single submitter
- ACSF2 p.Met7Ile Uncertain significance Single submitter
- ACSF2 p.Pro308Leu Uncertain significance Single submitter
- ACSF2 p.Ser264Leu Uncertain significance Single submitter
- ACSF2 p.Thr53Met Uncertain significance Single submitter
- ACSF2 p.Tyr247Cys Uncertain significance Single submitter
- ACSF2 p.Val216Ile Uncertain significance Single submitter
- ACSF2 p.Val433Leu Uncertain significance Single submitter
- ACSF2 p.Val51Gly Uncertain significance Single submitter
- ACSF2 p.Val92Ile Uncertain significance Single submitter
- ACSF2 p.Val98Leu Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- ACSF2 p.Ala112Ser Uncertain significance Single submitter
- ACSF2 p.Ala15Pro Uncertain significance Single submitter
- ACSF2 p.Ala15Thr Uncertain significance Single submitter
- ACSF2 p.Ala160Val Uncertain significance Single submitter
- ACSF2 p.Ala234Val Uncertain significance Single submitter
- ACSF2 p.Ala495Thr Uncertain significance Single submitter
- ACSF2 p.Arg12Thr Uncertain significance Single submitter
- ACSF2 p.Arg239Trp Uncertain significance Single submitter
- ACSF2 p.Arg24Gln Uncertain significance Single submitter
- ACSF2 p.Arg29Gln Uncertain significance Single submitter
- ACSF2 p.Arg302Gln Uncertain significance Single submitter
- ACSF2 p.Arg40Gly Uncertain significance Single submitter
- ACSF2 p.Arg443Gln Likely benign Single submitter
- ACSF2 p.Arg443Trp Uncertain significance Single submitter
- ACSF2 p.Arg508His Uncertain significance Single submitter
- ACSF2 p.Arg557Trp Uncertain significance Single submitter
- ACSF2 p.Arg606Gln Uncertain significance Single submitter
- ACSF2 p.Arg611Leu Uncertain significance Single submitter
- ACSF2 p.Asn282Lys Uncertain significance Single submitter
- ACSF2 p.Asp368Glu Uncertain significance Single submitter
- ACSF2 p.Gln536His Uncertain significance Single submitter
- ACSF2 p.Glu198Val Uncertain significance Single submitter
- ACSF2 p.Glu448Lys Uncertain significance Single submitter
- ACSF2 p.Glu610Lys Uncertain significance Single submitter
- ACSF2 p.His95Asn Uncertain significance Single submitter
- ACSF2 p.Ile193Thr Uncertain significance Single submitter
- ACSF2 p.Ile217Met Uncertain significance Single submitter
- ACSF2 p.Leu210Val Uncertain significance Single submitter
- ACSF2 p.Leu27Ile Uncertain significance Single submitter
- ACSF2 p.Leu36Met Uncertain significance Single submitter
- ACSF2 p.Leu69Ile Uncertain significance Single submitter
- ACSF2 p.Leu91Phe Uncertain significance Single submitter
- ACSF2 p.Lys123Arg Uncertain significance Single submitter
- ACSF2 p.Lys168Met Uncertain significance Single submitter
- ACSF2 p.Met320Thr Uncertain significance Single submitter
- ACSF2 p.Pro178Leu Uncertain significance Single submitter
- ACSF2 p.Pro222Leu Uncertain significance Single submitter
- ACSF2 p.Pro224Leu Uncertain significance Single submitter
- ACSF2 p.Pro422Ser Uncertain significance Single submitter
- ACSF2 p.Ser218Leu Uncertain significance Single submitter
- ACSF2 p.Ser375Leu Uncertain significance Single submitter
- ACSF2 p.Thr215Ile Uncertain significance Single submitter
- ACSF2 p.Thr356Ala Uncertain significance Single submitter
- ACSF2 p.Thr358Met Uncertain significance Single submitter
- ACSF2 p.Thr457Lys Uncertain significance Single submitter
- ACSF2 p.Val216Ala Uncertain significance Single submitter
- ACSF2 p.Val232Met Uncertain significance Single submitter
- ACSF2 p.Val316Met Uncertain significance Single submitter
- ACSF2 p.Val405Gly Uncertain significance Single submitter
- ACSF2 p.Val433Met Uncertain significance Single submitter
- ACSF2 p.Val506Met Uncertain significance Single submitter
All ACSF2 variants
Likely benign 3
- p.Arg443Gln Single submitter ⚠
- p.Ile304Val Single submitter
- p.Val61Ile Single submitter
Uncertain significance 84
- p.Ala112Ser Single submitter ⚠
- p.Ala15Pro Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala160Pro Single submitter ⚠
- p.Ala160Val Single submitter ⚠
- p.Ala234Val Single submitter ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala495Thr Single submitter ⚠
- p.Ala571Thr Single submitter ⚠
- p.Arg12Thr Single submitter ⚠
- p.Arg239Trp Single submitter ⚠
- p.Arg24Gln Single submitter ⚠
- p.Arg290His Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg40Gly Single submitter ⚠
- p.Arg443Trp Single submitter ⚠
- p.Arg45Thr Single submitter ⚠
- p.Arg49Cys Single submitter ⚠
- p.Arg508His Single submitter ⚠
- p.Arg557Trp Single submitter ⚠
- p.Arg606Gln Single submitter ⚠
- p.Arg611Leu Single submitter ⚠
- p.Asn282Lys Single submitter ⚠
- p.Asn337Ser Single submitter ⚠
- p.Asn70Asp Single submitter ⚠
- p.Asn70His Single submitter ⚠
- p.Asp368Glu Single submitter ⚠
- p.Asp486Asn Single submitter ⚠
- p.Asp48Gly Single submitter ⚠
- p.Asp546Asn Single submitter ⚠
- p.Cys194Tyr Single submitter ⚠
- p.Gln180Glu Single submitter ⚠
- p.Gln536His Single submitter ⚠
- p.Glu198Val Single submitter ⚠
- p.Glu448Lys Single submitter ⚠
- p.Glu610Lys Single submitter ⚠
- p.Gly516Asp Single submitter ⚠
- p.His311Arg Single submitter ⚠
- p.His420Pro Single submitter ⚠
- p.His612Arg Single submitter ⚠
- p.His95Asn Single submitter ⚠
- p.Ile193Thr Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile217Met Single submitter ⚠
- p.Ile286Val Single submitter ⚠
- p.Leu139Pro Single submitter ⚠
- p.Leu210Val Single submitter ⚠
- p.Leu27Ile Single submitter ⚠
- p.Leu305Val Single submitter ⚠
- p.Leu36Met Single submitter ⚠
- p.Leu69Ile Single submitter ⚠
- p.Leu91Phe Single submitter ⚠
- p.Lys123Arg Single submitter ⚠
- p.Lys168Met Single submitter ⚠
- p.Met161Val Single submitter ⚠
- p.Met320Thr Single submitter ⚠
- p.Met50Ile Single submitter ⚠
- p.Met7Ile Single submitter ⚠
- p.Pro178Leu Single submitter ⚠
- p.Pro222Leu Single submitter ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro308Leu Single submitter ⚠
- p.Pro422Ser Single submitter ⚠
- p.Ser218Leu Single submitter ⚠
- p.Ser264Leu Single submitter ⚠
- p.Ser375Leu Single submitter ⚠
- p.Thr215Ile Single submitter ⚠
- p.Thr356Ala Single submitter ⚠
- p.Thr358Met Single submitter ⚠
- p.Thr457Lys Single submitter ⚠
- p.Thr53Met Single submitter ⚠
- p.Tyr247Cys Single submitter ⚠
- p.Val216Ala Single submitter ⚠
- p.Val216Ile Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val316Met Single submitter ⚠
- p.Val405Gly Single submitter ⚠
- p.Val433Leu Single submitter ⚠
- p.Val433Met Single submitter ⚠
- p.Val506Met Single submitter ⚠
- p.Val51Gly Single submitter ⚠
- p.Val92Ile Single submitter ⚠
- p.Val98Leu Single submitter ⚠