VMA22 — 50 ClinVar variants
All ClinVar germline VMA22 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 6 Benign · 1 Benign/Likely benign · 18 Likely benign · 19 Uncertain significance
Full VMA22 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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VMA22 p.Arg102Gln
Uncertain significance
Multiple submitters
CCDC115-CDG
-
VMA22 p.Leu147Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VMA22 p.Met49Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VMA22 p.Ser72Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VMA22 p.Arg46Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VMA22 p.Arg46Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
VMA22 p.Glu64Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
VMA22 p.Ile151Leu
Uncertain significance
Single submitter
CCDC115-CDG
-
VMA22 p.Ile151Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VMA22 p.Leu18Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
VMA22 p.Trp125Arg
Uncertain significance
Single submitter
neutropenia, severe congenital, 8, autosomal dominant
Predictors split 4
The independent predictors disagree with each other — read with care.
All VMA22 variants
Pathogenic 3
- p.Leu31Ser Multiple submitters CCDC115-CDG
- p.Glu76fs Single submitter CCDC115-CDG
- p.Phe81fs Single submitter
Likely pathogenic 1
- c.298+1G>A Single submitter
Conflicting classifications of pathogenicity 2
- p.Gln136Glu Single submitter ⚠
- p.Met1Val Single submitter
Benign 6
- c.-402C>T Multiple submitters
- p.Lys173= Multiple submitters
- c.216-9G>A Single submitter
- c.*330C>T Single submitter
- p.Ala48= Single submitter
- p.Leu31Phe Single submitter
Benign/Likely benign 1
- p.Ala148= Multiple submitters
Likely benign 18
- p.Ala180Val Multiple submitters
- p.Asp121= Multiple submitters
- c.112-17C>T Single submitter
- c.298+10C>T Single submitter
- c.298+16del Single submitter
- c.298+7C>T Single submitter
- c.430+11C>T Single submitter
- p.Ala180= Single submitter
- p.Ala71Thr Single submitter Inborn genetic diseases
- p.Asp159= Single submitter
- p.Asp20= Single submitter
- p.Gln174His Single submitter
- p.Glu36= Single submitter
- p.Leu145= Single submitter
- p.Leu17= Single submitter
- p.Pro113= Single submitter
- p.Ser61= Single submitter
- p.Val88= Single submitter
Uncertain significance 19
- p.Arg102Gln Multiple submitters CCDC115-CDG ⚠
- p.Leu147Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met49Lys Multiple submitters Inborn genetic diseases ⚠
- p.Ser72Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ala152Thr Single submitter Inborn genetic diseases ⚠
- p.Ala45Thr Single submitter Inborn genetic diseases
- p.Arg102Trp Single submitter ⚠
- p.Arg104Cys Single submitter Inborn genetic diseases
- p.Arg135His Single submitter Inborn genetic diseases
- p.Arg157Cys Single submitter CCDC115-CDG ⚠
- p.Arg162Ter Single submitter
- p.Arg46Cys Single submitter Inborn genetic diseases ⚠
- p.Arg46Gly Single submitter Inborn genetic diseases ⚠
- p.Glu36Asp Single submitter CCDC115-CDG ⚠
- p.Glu64Gln Single submitter Inborn genetic diseases ⚠
- p.Ile151Leu Single submitter CCDC115-CDG ⚠
- p.Ile151Val Single submitter Inborn genetic diseases ⚠
- p.Leu18Phe Single submitter Inborn genetic diseases ⚠
- p.Trp125Arg Single submitter neutropenia, severe congenital, 8, autosomal dominant ⚠