GALM — 116 ClinVar variants
All ClinVar germline GALM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
5 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 23 Benign · 1 Benign/Likely benign · 22 Likely benign · 63 Uncertain significance
Full GALM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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.
-
GALM p.Gly142Arg
Conflicting
Single submitter
GALM-related disorder
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GALM p.Arg131Cys
Uncertain significance
Multiple submitters
GALM-related disorder
-
GALM p.Gly155Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALM p.Ala163Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Ala198Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Ala80Thr Uncertain significance Single submitter
- GALM p.Arg131His Uncertain significance Single submitter
-
GALM p.Arg267Gly
Uncertain significance
Single submitter
GALM-related disorder
-
GALM p.Arg319His
Uncertain significance
Single submitter
GALM-related disorder
- GALM p.Arg82Gln Uncertain significance Single submitter
-
GALM p.Asn245Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Cys247Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Cys38Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Glu229Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Glu330Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Gly219Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Gly266Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Gly266Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.His233Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Ile33Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Leu234Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Lys226Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Lys89Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Phe246Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Phe320Leu
Uncertain significance
Single submitter
galactosemia 4
-
GALM p.Pro276Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Pro322Leu Uncertain significance Single submitter
-
GALM p.Ser3Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Ser3Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Thr195Pro Uncertain significance Single submitter
-
GALM p.Thr273Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Thr41Ile Uncertain significance Single submitter
-
GALM p.Thr5Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Thr5Ser Uncertain significance Single submitter
-
GALM p.Val110Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Val217Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Val297Leu Uncertain significance Single submitter
-
GALM p.Val323Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Val341Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Val55Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Val75Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Lys21Arg
Uncertain significance
No assertion criteria
GALM-related disorder
Predictors split 15
The independent predictors disagree with each other — read with care.
- GALM p.Gly328Asp Benign Multiple submitters
-
GALM p.His333Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALM p.Val8Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALM p.Asp199Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Glu253Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Glu94Lys Uncertain significance Single submitter
-
GALM p.Gly295Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALM p.Gly303Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Leu12Pro Uncertain significance Single submitter
-
GALM p.Lys85Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Ser130Leu Uncertain significance Single submitter
-
GALM p.Ser26Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GALM p.Thr151Asn Uncertain significance Single submitter
- GALM p.Tyr201Cys Uncertain significance Single submitter
-
GALM p.Val55Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All GALM variants
Pathogenic 5
- p.Arg82Ter Single submitter galactosemia 4
- p.Glu193Ter Single submitter
- p.Tyr65Ter Single submitter
- p.Ile99fs No assertion criteria galactosemia 4
- p.Trp311Ter No assertion criteria galactosemia 4
Likely pathogenic 1
- p.Asp153fs Single submitter galactosemia 4
Conflicting classifications of pathogenicity 1
- p.Gly142Arg Single submitter GALM-related disorder ⚠
Benign 23
- c.191-100G>T Multiple submitters
- c.191-128T>C Multiple submitters
- c.191-32T>A Multiple submitters
- c.553-49T>C Multiple submitters
- c.634+127T>C Multiple submitters
- c.776+108A>G Multiple submitters
- c.776+216T>C Multiple submitters
- c.952-12T>C Multiple submitters
- c.*116A>G Multiple submitters
- p.Asn190Tyr Multiple submitters galactosemia 4
- p.Gln49= Multiple submitters
- p.Gly328Asp Multiple submitters ⚠
- p.Phe285= Multiple submitters
- c.190+167A>G Single submitter
- c.190+184G>A Single submitter
- c.345+8C>T Single submitter
- c.346-137del Single submitter
- c.346-137dup Single submitter
- c.346-14del Single submitter
- c.635-193ATTT[6] Single submitter
- c.952-139A>G Single submitter
- c.952-185A>G Single submitter
- c.952-8dup Single submitter
Benign/Likely benign 1
- p.Ser130= Multiple submitters
Likely benign 22
- p.Asn104= Multiple submitters
- c.777-11T>C Single submitter
- c.777-18_777-16del Single submitter
- p.Ala2Val Single submitter Inborn genetic diseases
- p.Arg225= Single submitter
- p.Arg319Cys Single submitter galactosemia 4
- p.Arg82Gly Single submitter
- p.Glu102Gly Single submitter Inborn genetic diseases
- p.Gly50= Single submitter
- p.Gly58= Single submitter
- p.His233= Single submitter
- p.Ile189Thr Single submitter
- p.Leu12= Single submitter
- p.Leu239= Single submitter
- p.Lys85= Single submitter
- p.Phe179= Single submitter
- p.Phe222= Single submitter
- p.Thr282= Single submitter
- p.Val122= Single submitter
- p.Val260= Single submitter
- p.Val341= Single submitter
- p.Leu324= No assertion criteria GALM-related disorder
Uncertain significance 63
- p.Arg131Cys Multiple submitters GALM-related disorder ⚠
- p.Gly155Arg Multiple submitters Inborn genetic diseases ⚠
- p.His333Arg Multiple submitters Inborn genetic diseases ⚠
- p.Val8Met Multiple submitters Inborn genetic diseases ⚠
- c.191-3C>G Single submitter
- p.Ala163Pro Single submitter Inborn genetic diseases ⚠
- p.Ala198Gly Single submitter Inborn genetic diseases ⚠
- p.Ala221del Single submitter galactosemia 4
- p.Ala80Thr Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Arg267Gly Single submitter GALM-related disorder ⚠
- p.Arg319His Single submitter GALM-related disorder ⚠
- p.Arg82Gln Single submitter ⚠
- p.Asn245Asp Single submitter Inborn genetic diseases ⚠
- p.Asp199Ala Single submitter Inborn genetic diseases ⚠
- p.Asp32Tyr Single submitter Inborn genetic diseases
- p.Cys247Ser Single submitter Inborn genetic diseases ⚠
- p.Cys38Tyr Single submitter Inborn genetic diseases ⚠
- p.Glu138del Single submitter
- p.Glu229Asp Single submitter Inborn genetic diseases ⚠
- p.Glu253Lys Single submitter Inborn genetic diseases ⚠
- p.Glu329fs Single submitter
- p.Glu330Asp Single submitter Inborn genetic diseases ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly10Ala Single submitter
- p.Gly219Asp Single submitter Inborn genetic diseases ⚠
- p.Gly266Arg Single submitter Inborn genetic diseases ⚠
- p.Gly266Trp Single submitter Inborn genetic diseases ⚠
- p.Gly295Arg Single submitter Inborn genetic diseases ⚠
- p.Gly303Ser Single submitter Inborn genetic diseases ⚠
- p.His233Arg Single submitter Inborn genetic diseases ⚠
- p.Ile33Val Single submitter Inborn genetic diseases ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu234Met Single submitter Inborn genetic diseases ⚠
- p.Lys226Asn Single submitter Inborn genetic diseases ⚠
- p.Lys85Asn Single submitter Inborn genetic diseases ⚠
- p.Lys89Asn Single submitter Inborn genetic diseases ⚠
- p.Phe246Cys Single submitter Inborn genetic diseases ⚠
- p.Phe285Ile Single submitter Inborn genetic diseases
- p.Phe320Leu Single submitter galactosemia 4 ⚠
- p.Pro276Ser Single submitter Inborn genetic diseases ⚠
- p.Pro322Leu Single submitter ⚠
- p.Ser130Leu Single submitter ⚠
- p.Ser26Leu Single submitter Inborn genetic diseases ⚠
- p.Ser3Leu Single submitter Inborn genetic diseases ⚠
- p.Ser3Thr Single submitter Inborn genetic diseases ⚠
- p.Thr151Asn Single submitter ⚠
- p.Thr195Pro Single submitter ⚠
- p.Thr273Ile Single submitter Inborn genetic diseases ⚠
- p.Thr41Ile Single submitter ⚠
- p.Thr5Ala Single submitter Inborn genetic diseases ⚠
- p.Thr5Ser Single submitter ⚠
- p.Tyr201Cys Single submitter ⚠
- p.Val110Asp Single submitter Inborn genetic diseases ⚠
- p.Val217Gly Single submitter Inborn genetic diseases ⚠
- p.Val297Leu Single submitter ⚠
- p.Val323Met Single submitter Inborn genetic diseases ⚠
- p.Val341Leu Single submitter Inborn genetic diseases ⚠
- p.Val55Ala Single submitter Inborn genetic diseases ⚠
- p.Val55Leu Single submitter Inborn genetic diseases ⚠
- p.Val75Ala Single submitter Inborn genetic diseases ⚠
- c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT No assertion criteria schizophrenia
- p.Lys21Arg No assertion criteria GALM-related disorder ⚠