ACHE — 68 ClinVar variants
All ClinVar germline ACHE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
3 Benign · 2 Benign/Likely benign · 9 Likely benign · 54 Uncertain significance
Full ACHE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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.
- ACHE p.Ala14Thr Uncertain significance Single submitter
- ACHE p.Ala458Thr Uncertain significance Single submitter
- ACHE p.Ala536Val Uncertain significance Single submitter
- ACHE p.Ala557Thr Uncertain significance Single submitter
- ACHE p.Arg196Gln Uncertain significance Single submitter
- ACHE p.Arg276His Uncertain significance Single submitter
- ACHE p.Arg424His Uncertain significance Single submitter
- ACHE p.Arg49Gln Uncertain significance Single submitter
- ACHE p.Arg516His Uncertain significance Single submitter
- ACHE p.Arg52Ser Uncertain significance Single submitter
- ACHE p.Arg565Gly Uncertain significance Single submitter
- ACHE p.Arg610Leu Uncertain significance Single submitter
- ACHE p.Asn264Ser Uncertain significance Single submitter
- ACHE p.Asn513Ser Uncertain significance Single submitter
- ACHE p.Asp165Asn Uncertain significance Single submitter
- ACHE p.Asp431Asn Uncertain significance Single submitter
- ACHE p.Asp519His Uncertain significance Single submitter
- ACHE p.Asp525Asn Uncertain significance Single submitter
- ACHE p.Glu522Ala Uncertain significance Single submitter
- ACHE p.Gly271Ala Uncertain significance Single submitter
- ACHE p.Gly28Arg Uncertain significance Single submitter
- ACHE p.Gly30Arg Uncertain significance Single submitter
- ACHE p.His412Arg Uncertain significance Single submitter
- ACHE p.Leu177Pro Uncertain significance Single submitter
- ACHE p.Leu22Val Uncertain significance Single submitter
- ACHE p.Leu472Pro Uncertain significance Single submitter
- ACHE p.Leu549Pro Uncertain significance Single submitter
- ACHE p.Leu571Val Uncertain significance Single submitter
- ACHE p.Lys527Gln Uncertain significance Single submitter
- ACHE p.Met474Val Uncertain significance Single submitter
- ACHE p.Ser430Asn Uncertain significance Single submitter
- ACHE p.Ser493Phe Uncertain significance Single submitter
- ACHE p.Ser606Asn Uncertain significance Single submitter
- ACHE p.Ala345Thr Uncertain significance No assertion criteria
Predictors split 18
The independent predictors disagree with each other — read with care.
- ACHE p.Gly89Glu Benign Multiple submitters
- ACHE p.Pro135Ala Likely benign Multiple submitters
- ACHE p.Ala256Thr Uncertain significance Single submitter
- ACHE p.Arg305Gln Uncertain significance Single submitter
- ACHE p.Arg44Cys Uncertain significance Single submitter
- ACHE p.Asn296His Uncertain significance Single submitter
- ACHE p.Glu420Lys Uncertain significance Single submitter
- ACHE p.Leu449Gln Uncertain significance Single submitter
- ACHE p.Met242Ile Uncertain significance Single submitter
- ACHE p.Phe484Leu Uncertain significance Single submitter
- ACHE p.Pro135Arg Uncertain significance Single submitter
- ACHE p.Pro144Ser Uncertain significance Single submitter
- ACHE p.Pro289Ser Uncertain significance Single submitter
- ACHE p.Thr94Ile Uncertain significance Single submitter
- ACHE p.Val147Ile Uncertain significance Single submitter
- ACHE p.Val394Leu Uncertain significance Single submitter
- ACHE p.Val409Leu Uncertain significance Single submitter
- ACHE p.Val433Met Uncertain significance Single submitter
All ACHE variants
Benign 3
- p.Arg34Gln Multiple submitters
- p.Gly89Glu Multiple submitters ⚠
- p.His353Asn Single submitter
Likely benign 9
- p.Pro135Ala Multiple submitters ⚠
- p.Pro441= Multiple submitters
- p.Asn348= Single submitter
- p.His478= Single submitter
- p.Leu282= Single submitter
- p.Pro422= Single submitter
- p.Thr497= Single submitter
- p.Val460Ile Single submitter
- c.1723+152C>A No assertion criteria ACHE-related disorder
Uncertain significance 54
- p.Ala14Thr Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala408Gly Single submitter
- p.Ala458Thr Single submitter ⚠
- p.Ala536Val Single submitter ⚠
- p.Ala557Thr Single submitter ⚠
- p.Arg167Gly Single submitter
- p.Arg196Gln Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg387Pro Single submitter
- p.Arg424His Single submitter ⚠
- p.Arg44Cys Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg516His Single submitter ⚠
- p.Arg52Ser Single submitter ⚠
- p.Arg565Gly Single submitter ⚠
- p.Arg610Leu Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Asn296His Single submitter ⚠
- p.Asn513Ser Single submitter ⚠
- p.Asp165Asn Single submitter ⚠
- p.Asp431Asn Single submitter ⚠
- p.Asp519His Single submitter ⚠
- p.Asp525Asn Single submitter ⚠
- p.Gln5fs Single submitter
- p.Glu420Lys Single submitter ⚠
- p.Glu522Ala Single submitter ⚠
- p.Gly271Ala Single submitter ⚠
- p.Gly28Arg Single submitter ⚠
- p.Gly30Arg Single submitter ⚠
- p.His412Arg Single submitter ⚠
- p.Leu177Pro Single submitter ⚠
- p.Leu22Val Single submitter ⚠
- p.Leu449Gln Single submitter ⚠
- p.Leu472Pro Single submitter ⚠
- p.Leu549Pro Single submitter ⚠
- p.Leu571Val Single submitter ⚠
- p.Lys527Gln Single submitter ⚠
- p.Met242Ile Single submitter ⚠
- p.Met474Val Single submitter ⚠
- p.Phe484Leu Single submitter ⚠
- p.Pro135Arg Single submitter ⚠
- p.Pro144Ser Single submitter ⚠
- p.Pro289Ser Single submitter ⚠
- p.Ser430Asn Single submitter ⚠
- p.Ser493Phe Single submitter ⚠
- p.Ser606Asn Single submitter ⚠
- p.Thr94Ile Single submitter ⚠
- p.Val147Ile Single submitter ⚠
- p.Val394Leu Single submitter ⚠
- p.Val409Leu Single submitter ⚠
- p.Val433Met Single submitter ⚠
- p.Ala345Thr No assertion criteria ⚠