GALE — 412 ClinVar variants
All ClinVar germline GALE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
23 Pathogenic · 10 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 22 Conflicting · 7 Benign · 4 Benign/Likely benign · 202 Likely benign · 121 Uncertain significance
Full GALE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
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 vs ClinVar 6
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GALE p.Arg169Trp
Pathogenic/Likely pathogenic
Multiple submitters
galactose epimerase deficiency
-
GALE p.Arg335His
Likely pathogenic
Multiple submitters
GALE-related disorder
-
GALE p.Thr150Met
Pathogenic/Likely pathogenic
Multiple submitters
galactose epimerase deficiency
-
GALE p.Ala72Thr
Likely pathogenic
Single submitter
galactose epimerase deficiency
-
GALE p.Asp69Glu
Likely pathogenic
Single submitter
galactose epimerase deficiency
-
GALE p.Leu313Met
Pathogenic
No assertion criteria
galactose epimerase deficiency
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GALE p.Ala89Val
Conflicting
Single submitter
galactose epimerase deficiency
-
GALE p.Arg51Trp
Conflicting
Single submitter
galactose epimerase deficiency
-
GALE p.Gly95Asp
Conflicting
Single submitter
galactose epimerase deficiency
-
GALE p.Leu223Pro
Conflicting
Single submitter
galactose epimerase deficiency
Predictors lean, ClinVar uncertain 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GALE p.Ala133Val
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Arg169Gln
Uncertain significance
Multiple submitters
galactose epimerase deficiency
- GALE p.Arg184His Uncertain significance Multiple submitters
-
GALE p.Arg220Pro
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Arg265Gln
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Arg299Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALE p.Arg58Cys
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Asp246Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALE p.Asp33Asn
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Gly158Ser
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Gly218Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALE p.Gly218Trp
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Gly237Asp
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Gly270Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALE p.His148Asn
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Leu333Ile
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Pro201Leu
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Tyr230Cys
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Val128Met
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Ala133Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Ala191Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GALE p.Ala216Glu Uncertain significance Single submitter
-
GALE p.Ala254Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Ala287Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GALE p.Ala309Thr Uncertain significance Single submitter
-
GALE p.Arg184Cys
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Arg239Gln Uncertain significance Single submitter
-
GALE p.Arg300Gln
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Arg300Trp Uncertain significance Single submitter
-
GALE p.Arg75His
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Asn187Ser
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Cys330Tyr
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Glu146Lys Uncertain significance Single submitter
-
GALE p.Glu165Gln
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Glu285Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Glu63Gln
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Glu96Lys
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Gly12Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Gly137Arg
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Gly272Ser
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Gly274Arg Uncertain significance Single submitter
-
GALE p.Gly302Cys
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Gly343Ala
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.His17Tyr Uncertain significance Single submitter
-
GALE p.His243Pro
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Ile164Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GALE p.Ile266Leu Uncertain significance Single submitter
-
GALE p.Ile67Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Leu142Pro
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Leu182Pro Uncertain significance Single submitter
-
GALE p.Leu318Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Leu45Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Lys120Glu
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Met65Thr
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Phe226Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GALE p.Pro201Ser Uncertain significance Single submitter
- GALE p.Pro210Leu Uncertain significance Single submitter
-
GALE p.Ser160Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Ser97Leu
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Thr110Ala
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Thr346Met Uncertain significance Single submitter
-
GALE p.Trp334Arg
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Tyr185Cys Uncertain significance Single submitter
- GALE p.Tyr211Cys Uncertain significance Single submitter
-
GALE p.Val107Ile
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Val238Ala
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Val297Met Uncertain significance Single submitter
-
GALE p.Val304Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALE p.Val5Leu
Uncertain significance
Single submitter
galactose epimerase deficiency
Predictors split 33
The independent predictors disagree with each other — read with care.
-
GALE p.Ala180Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALE p.Ala254Thr
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Asn126Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALE p.Asp103Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALE p.Asp327His
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Glu47Ala
Uncertain significance
Multiple submitters
GALE-related disorder
-
GALE p.Ile252Thr
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Pro293Leu
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Tyr27Cys
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Tyr308Cys
Uncertain significance
Multiple submitters
galactose epimerase deficiency
-
GALE p.Ala11Ser
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Ala191Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GALE p.Ala216Val Uncertain significance Single submitter
- GALE p.Ala25Val Uncertain significance Single submitter
-
GALE p.Arg220Trp
Conflicting
Single submitter
galactose epimerase deficiency
- GALE p.Arg265Trp Uncertain significance Single submitter
-
GALE p.Arg335Cys
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Arg40Cys Uncertain significance Single submitter
- GALE p.Arg40His Uncertain significance Single submitter
-
GALE p.Asn34Ser
Conflicting
Single submitter
galactose epimerase deficiency
-
GALE p.Asn37Ser
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Asp103Gly
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Asp69Asn Uncertain significance Single submitter
-
GALE p.Gly319Arg
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Gly325Arg
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Gly57Ser Uncertain significance Single submitter
-
GALE p.Ile204Thr
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Ile266Phe
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Phe162Leu Uncertain significance Single submitter
-
GALE p.Phe163Cys
Uncertain significance
Single submitter
galactose epimerase deficiency
- GALE p.Thr18Met Uncertain significance Single submitter
-
GALE p.Thr271Met
Uncertain significance
Single submitter
galactose epimerase deficiency
-
GALE p.Tyr294His
Uncertain significance
Single submitter
Inborn genetic diseases
All GALE variants
Pathogenic 23
- p.Arg219Ter Single submitter galactose epimerase deficiency
- p.Arg51fs Single submitter galactose epimerase deficiency
- p.Asp229_Tyr230insTer Single submitter galactose epimerase deficiency
- p.Asp234fs Single submitter galactose epimerase deficiency
- p.Asp66fs Single submitter galactose epimerase deficiency
- p.Gln261Ter Single submitter galactose epimerase deficiency
- p.Gly123_Val124insTer Single submitter galactose epimerase deficiency
- p.Gly272fs Single submitter galactose epimerase deficiency
- p.Ile252fs Single submitter galactose epimerase deficiency
- p.Leu91fs Single submitter
- p.Lys259fs Single submitter galactose epimerase deficiency
- p.Met1Ile Single submitter galactose epimerase deficiency
- p.Met1Val Single submitter galactose epimerase deficiency
- p.Phe88fs Single submitter galactose epimerase deficiency
- p.Pro188fs Single submitter galactose epimerase deficiency
- p.Ser276fs Single submitter
- p.Ser312fs Single submitter galactose epimerase deficiency
- p.Thr232fs Single submitter galactose epimerase deficiency
- p.Trp178Ter Single submitter galactose epimerase deficiency
- p.Val212fs Single submitter galactose epimerase deficiency
- p.Gly90Glu No assertion criteria galactose epimerase deficiency
- p.Leu313Met No assertion criteria galactose epimerase deficiency ⚠
- p.Lys78fs No assertion criteria thrombocytopenia 13, syndromic
Pathogenic/Likely pathogenic 10
- c.796-1G>T Multiple submitters thrombocytopenia 13, syndromic
- p.Arg169Trp Multiple submitters galactose epimerase deficiency ⚠
- p.Arg239Trp Multiple submitters thrombocytopenia 13, syndromic
- p.Gln173fs Multiple submitters galactose epimerase deficiency
- p.Gly250fs Multiple submitters galactose epimerase deficiency
- p.Met1Thr Multiple submitters galactose epimerase deficiency
- p.Ser48fs Multiple submitters galactose epimerase deficiency
- p.Thr150Met Multiple submitters galactose epimerase deficiency ⚠
- p.Tyr105_Arg106delinsTer Multiple submitters galactose epimerase deficiency
- p.Val94Met Multiple submitters galactose epimerase deficiency
Likely pathogenic 23
- c.122-11_122-1del Multiple submitters galactose epimerase deficiency
- c.351+1G>T Multiple submitters thrombocytopenia 13, syndromic
- c.642+1G>A Multiple submitters galactose epimerase deficiency
- c.643-2A>C Multiple submitters thrombocytopenia 13, syndromic
- p.Arg335His Multiple submitters GALE-related disorder ⚠
- p.Gly302Asp Multiple submitters thrombocytopenia 13, syndromic
- p.Leu183Pro Multiple submitters galactose epimerase deficiency
- c.351+2T>C Single submitter galactose epimerase deficiency
- c.528+1G>A Single submitter galactose epimerase deficiency
- c.709+1G>A Single submitter
- c.709+2_709+17del Single submitter galactose epimerase deficiency
- c.795+1G>A Single submitter galactose epimerase deficiency
- c.873+2T>C Single submitter galactose epimerase deficiency
- p.Ala72Thr Single submitter galactose epimerase deficiency ⚠
- p.Asp145fs Single submitter galactose epimerase deficiency
- p.Asp69Glu Single submitter galactose epimerase deficiency ⚠
- p.Glu331fs Single submitter galactose epimerase deficiency
- p.Ile242fs Single submitter galactose epimerase deficiency
- p.Tyr294Ter Single submitter galactose epimerase deficiency
- p.Tyr308Ter Single submitter galactose epimerase deficiency
- c.237+1G>T No assertion criteria galactose epimerase deficiency
- c.352-1G>C No assertion criteria galactose epimerase deficiency
- c.710-2A>G No assertion criteria galactose epimerase deficiency
Conflicting classifications of pathogenicity 22
- c.237+20G>A Single submitter galactose epimerase deficiency
- c.238-6C>T Single submitter galactose epimerase deficiency
- c.529-11A>G Single submitter galactose epimerase deficiency
- c.529-12C>T Single submitter galactose epimerase deficiency
- c.709+18G>A Single submitter galactose epimerase deficiency
- c.874-9G>A Single submitter galactose epimerase deficiency
- c.988+5G>A Single submitter galactose epimerase deficiency
- c.988+7G>A Single submitter galactose epimerase deficiency
- c.989-13C>T Single submitter galactose epimerase deficiency
- p.Ala216= Single submitter galactose epimerase deficiency
- p.Ala89Val Single submitter galactose epimerase deficiency ⚠
- p.Arg220Trp Single submitter galactose epimerase deficiency ⚠
- p.Arg51Trp Single submitter galactose epimerase deficiency ⚠
- p.Asn34Ser Single submitter galactose epimerase deficiency ⚠
- p.Glu64= Single submitter galactose epimerase deficiency
- p.Gly95Asp Single submitter galactose epimerase deficiency ⚠
- p.Leu223Pro Single submitter galactose epimerase deficiency ⚠
- p.Pro149= Single submitter galactose epimerase deficiency
- p.Thr110= Single submitter galactose epimerase deficiency
- p.Thr150= Single submitter galactose epimerase deficiency
- p.Tyr136Ter Single submitter galactose epimerase deficiency
- p.Tyr141= Single submitter galactose epimerase deficiency
Benign 7
- c.238-101C>T Multiple submitters
- c.351+110C>T Multiple submitters
- c.528+120G>T Multiple submitters
- c.709+14C>G Multiple submitters galactose epimerase deficiency
- c.873+13G>A Multiple submitters galactose epimerase deficiency
- c.873+20C>T Multiple submitters galactose epimerase deficiency
- c.873+12dup Single submitter galactose epimerase deficiency
Benign/Likely benign 4
- c.237+11G>A Multiple submitters galactose epimerase deficiency
- c.873+13G>C Multiple submitters galactose epimerase deficiency
- p.Leu258= Multiple submitters galactose epimerase deficiency
- p.Val304= Multiple submitters galactose epimerase deficiency
Likely benign 202
- c.709+7C>G Multiple submitters galactose epimerase deficiency
- c.795+8G>C Multiple submitters galactose epimerase deficiency
- c.873+13_873+14insA Multiple submitters galactose epimerase deficiency
- c.988+18C>T Multiple submitters galactose epimerase deficiency
- p.Ala298= Multiple submitters galactose epimerase deficiency
- p.His122= Multiple submitters galactose epimerase deficiency
- p.Leu28= Multiple submitters galactose epimerase deficiency
- p.Phe77= Multiple submitters galactose epimerase deficiency
- p.Ser48= Multiple submitters galactose epimerase deficiency
- p.Ser97= Multiple submitters galactose epimerase deficiency
- p.Thr18= Multiple submitters galactose epimerase deficiency
- p.Val124= Multiple submitters galactose epimerase deficiency
- c.121+10G>A Single submitter galactose epimerase deficiency
- c.121+11C>T Single submitter galactose epimerase deficiency
- c.121+14T>G Single submitter galactose epimerase deficiency
- c.121+16G>T Single submitter galactose epimerase deficiency
- c.121+18G>T Single submitter galactose epimerase deficiency
- c.121+7G>A Single submitter galactose epimerase deficiency
- c.122-13T>C Single submitter galactose epimerase deficiency
- c.122-14A>C Single submitter galactose epimerase deficiency
- c.122-14A>G Single submitter galactose epimerase deficiency
- c.122-18C>T Single submitter galactose epimerase deficiency
- c.122-19C>T Single submitter galactose epimerase deficiency
- c.122-20G>A Single submitter galactose epimerase deficiency
- c.122-20G>T Single submitter galactose epimerase deficiency
- c.122-4C>T Single submitter galactose epimerase deficiency
- c.122-7del Single submitter galactose epimerase deficiency
- c.237+19C>A Single submitter galactose epimerase deficiency
- c.237+19C>T Single submitter galactose epimerase deficiency
- c.238-16C>T Single submitter galactose epimerase deficiency
- c.238-17C>T Single submitter galactose epimerase deficiency
- c.238-20T>C Single submitter galactose epimerase deficiency
- c.238-6C>G Single submitter galactose epimerase deficiency
- c.351+16C>A Single submitter galactose epimerase deficiency
- c.351+17_351+18del Single submitter galactose epimerase deficiency
- c.351+17A>G Single submitter galactose epimerase deficiency
- c.351+20del Single submitter galactose epimerase deficiency
- c.352-14C>G Single submitter galactose epimerase deficiency
- c.352-15T>C Single submitter galactose epimerase deficiency
- c.352-16A>G Single submitter galactose epimerase deficiency
- c.352-19G>A Single submitter galactose epimerase deficiency
- c.352-4C>T Single submitter galactose epimerase deficiency
- c.352-7C>T Single submitter galactose epimerase deficiency
- c.352-9C>T Single submitter galactose epimerase deficiency
- c.528+18A>G Single submitter galactose epimerase deficiency
- c.528+19G>A Single submitter galactose epimerase deficiency
- c.528+8C>G Single submitter galactose epimerase deficiency
- c.528+8C>T Single submitter galactose epimerase deficiency
- c.529-10C>T Single submitter galactose epimerase deficiency
- c.529-17T>C Single submitter galactose epimerase deficiency
- c.529-18C>G Single submitter galactose epimerase deficiency
- c.529-5C>T Single submitter galactose epimerase deficiency
- c.529-6C>T Single submitter galactose epimerase deficiency
- c.529-8T>A Single submitter galactose epimerase deficiency
- c.642+11A>G Single submitter galactose epimerase deficiency
- c.642+16A>C Single submitter galactose epimerase deficiency
- c.642+16A>G Single submitter galactose epimerase deficiency
- c.642+18G>A Single submitter galactose epimerase deficiency
- c.642+7C>T Single submitter galactose epimerase deficiency
- c.643-10C>T Single submitter galactose epimerase deficiency
- c.643-15G>C Single submitter galactose epimerase deficiency
- c.643-17C>T Single submitter galactose epimerase deficiency
- c.643-19A>G Single submitter galactose epimerase deficiency
- c.643-5T>A Single submitter galactose epimerase deficiency
- c.643-6C>T Single submitter galactose epimerase deficiency
- c.643-7C>T Single submitter galactose epimerase deficiency
- c.709+14C>T Single submitter galactose epimerase deficiency
- c.709+15del Single submitter galactose epimerase deficiency
- c.709+16G>C Single submitter galactose epimerase deficiency
- c.710-12C>T Single submitter galactose epimerase deficiency
- c.710-15C>G Single submitter galactose epimerase deficiency
- c.710-16A>G Single submitter galactose epimerase deficiency
- c.710-18A>G Single submitter galactose epimerase deficiency
- c.710-19C>T Single submitter galactose epimerase deficiency
- c.795+12A>G Single submitter galactose epimerase deficiency
- c.795+13G>A Single submitter galactose epimerase deficiency
- c.795+13G>C Single submitter galactose epimerase deficiency
- c.795+14_795+15del Single submitter galactose epimerase deficiency
- c.795+16A>G Single submitter galactose epimerase deficiency
- c.795+20G>T Single submitter galactose epimerase deficiency
- c.795+7A>C Single submitter galactose epimerase deficiency
- c.795+9A>C Single submitter galactose epimerase deficiency
- c.873+12C>G Single submitter galactose epimerase deficiency
- c.873+14_873+15insCA Single submitter galactose epimerase deficiency
- c.873+18A>C Single submitter galactose epimerase deficiency
- c.873+18A>G Single submitter galactose epimerase deficiency
- c.873+7C>A Single submitter galactose epimerase deficiency
- c.873+7C>T Single submitter galactose epimerase deficiency
- c.873+8C>A Single submitter galactose epimerase deficiency
- c.873+9C>T Single submitter galactose epimerase deficiency
- c.874-12C>T Single submitter galactose epimerase deficiency
- c.874-14C>T Single submitter galactose epimerase deficiency
- c.874-15C>T Single submitter galactose epimerase deficiency
- c.874-18C>T Single submitter galactose epimerase deficiency
- c.874-19A>G Single submitter galactose epimerase deficiency
- c.874-7C>T Single submitter galactose epimerase deficiency
- c.874-9G>C Single submitter galactose epimerase deficiency
- c.988+11G>T Single submitter galactose epimerase deficiency
- c.988+12C>T Single submitter galactose epimerase deficiency
- c.988+14T>C Single submitter galactose epimerase deficiency
- c.988+17C>T Single submitter galactose epimerase deficiency
- c.988+19C>T Single submitter galactose epimerase deficiency
- c.989-10C>T Single submitter galactose epimerase deficiency
- c.989-11C>T Single submitter galactose epimerase deficiency
- c.989-12G>A Single submitter galactose epimerase deficiency
- c.989-16C>T Single submitter galactose epimerase deficiency
- c.989-17A>G Single submitter galactose epimerase deficiency
- c.989-18C>T Single submitter galactose epimerase deficiency
- c.989-19A>T Single submitter galactose epimerase deficiency
- c.989-20C>T Single submitter galactose epimerase deficiency
- c.989-7G>A Single submitter galactose epimerase deficiency
- c.989-8del Single submitter galactose epimerase deficiency
- c.989-8T>C Single submitter galactose epimerase deficiency
- c.989-9G>A Single submitter galactose epimerase deficiency
- c.-77+241C>G Single submitter galactose epimerase deficiency
- c.*195T>C Single submitter galactose epimerase deficiency
- p.Ala121= Single submitter galactose epimerase deficiency
- p.Ala133= Single submitter galactose epimerase deficiency
- p.Ala191= Single submitter galactose epimerase deficiency
- p.Ala193= Single submitter galactose epimerase deficiency
- p.Ala248= Single submitter galactose epimerase deficiency
- p.Ala38= Single submitter galactose epimerase deficiency
- p.Ala84= Single submitter galactose epimerase deficiency
- p.Ala93= Single submitter galactose epimerase deficiency
- p.Arg169= Single submitter galactose epimerase deficiency
- p.Arg184= Single submitter galactose epimerase deficiency
- p.Arg220= Single submitter galactose epimerase deficiency
- p.Arg50= Single submitter galactose epimerase deficiency
- p.Arg51= Single submitter galactose epimerase deficiency
- p.Asn108= Single submitter galactose epimerase deficiency
- p.Asn179= Single submitter galactose epimerase deficiency
- p.Asn207= Single submitter galactose epimerase deficiency
- p.Asn34= Single submitter galactose epimerase deficiency
- p.Asp145= Single submitter galactose epimerase deficiency
- p.Asp170= Single submitter galactose epimerase deficiency
- p.Asp240= Single submitter galactose epimerase deficiency
- p.Asp332= Single submitter galactose epimerase deficiency
- p.Asp69= Single submitter galactose epimerase deficiency
- p.Cys153= Single submitter galactose epimerase deficiency
- p.Cys196= Single submitter galactose epimerase deficiency
- p.Gln282= Single submitter galactose epimerase deficiency
- p.Gln70= Single submitter
- p.Glu21= Single submitter galactose epimerase deficiency
- p.Glu285= Single submitter galactose epimerase deficiency
- p.Glu3= Single submitter galactose epimerase deficiency
- p.Glu317= Single submitter galactose epimerase deficiency
- p.Glu331= Single submitter galactose epimerase deficiency
- p.Glu63= Single submitter galactose epimerase deficiency
- p.Glu96= Single submitter galactose epimerase deficiency
- p.Gly123= Single submitter galactose epimerase deficiency
- p.Gly152= Single submitter galactose epimerase deficiency
- p.Gly203= Single submitter galactose epimerase deficiency
- p.Gly274= Single submitter galactose epimerase deficiency
- p.Gly319= Single submitter galactose epimerase deficiency
- p.Gly90= Single submitter galactose epimerase deficiency
- p.Gly95= Single submitter galactose epimerase deficiency
- p.His17= Single submitter galactose epimerase deficiency
- p.His251= Single submitter galactose epimerase deficiency
- p.Ile118= Single submitter galactose epimerase deficiency
- p.Ile164= Single submitter galactose epimerase deficiency
- p.Ile168= Single submitter galactose epimerase deficiency
- p.Ile217= Single submitter galactose epimerase deficiency
- p.Ile32= Single submitter galactose epimerase deficiency
- p.Leu109= Single submitter galactose epimerase deficiency
- p.Leu115= Single submitter galactose epimerase deficiency
- p.Leu142= Single submitter galactose epimerase deficiency
- p.Leu23= Single submitter galactose epimerase deficiency
- p.Leu269= Single submitter galactose epimerase deficiency
- p.Leu313= Single submitter
- p.Leu326= Single submitter galactose epimerase deficiency
- p.Leu333= Single submitter galactose epimerase deficiency
- p.Leu49= Single submitter galactose epimerase deficiency
- p.Leu73= Single submitter galactose epimerase deficiency
- p.Leu91= Single submitter galactose epimerase deficiency
- p.Lys100= Single submitter galactose epimerase deficiency
- p.Lys159= Single submitter galactose epimerase deficiency
- p.Lys338= Single submitter galactose epimerase deficiency
- p.Phe162= Single submitter galactose epimerase deficiency
- p.Pro29= Single submitter galactose epimerase deficiency
- p.Pro293= Single submitter galactose epimerase deficiency
- p.Pro46= Single submitter galactose epimerase deficiency
- p.Ser312= Single submitter galactose epimerase deficiency
- p.Ser44= Single submitter galactose epimerase deficiency
- p.Thr134= Single submitter galactose epimerase deficiency
- p.Thr177= Single submitter galactose epimerase deficiency
- p.Thr271= Single submitter galactose epimerase deficiency
- p.Thr346= Single submitter galactose epimerase deficiency
- p.Tyr136= Single submitter galactose epimerase deficiency
- p.Tyr157= Single submitter galactose epimerase deficiency
- p.Tyr241= Single submitter galactose epimerase deficiency
- p.Tyr308= Single submitter galactose epimerase deficiency
- p.Val128= Single submitter galactose epimerase deficiency
- p.Val212= Single submitter galactose epimerase deficiency
- p.Val225= Single submitter galactose epimerase deficiency
- p.Val244= Single submitter galactose epimerase deficiency
- p.Val245= Single submitter galactose epimerase deficiency
- p.Val281= Single submitter galactose epimerase deficiency
- p.Val30= Single submitter galactose epimerase deficiency
- p.Val52= Single submitter galactose epimerase deficiency
- p.Val60= Single submitter galactose epimerase deficiency
- p.Val7= Single submitter galactose epimerase deficiency
- c.121+7G>C No assertion criteria GALE-related disorder
Uncertain significance 121
- c.121+6C>T Multiple submitters
- p.Ala133Val Multiple submitters galactose epimerase deficiency ⚠
- p.Ala180Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala254Thr Multiple submitters galactose epimerase deficiency ⚠
- p.Arg169Gln Multiple submitters galactose epimerase deficiency ⚠
- p.Arg184His Multiple submitters ⚠
- p.Arg220Pro Multiple submitters galactose epimerase deficiency ⚠
- p.Arg265Gln Multiple submitters galactose epimerase deficiency ⚠
- p.Arg299Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg58Cys Multiple submitters galactose epimerase deficiency ⚠
- p.Asn126Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp103Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp246Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp327His Multiple submitters galactose epimerase deficiency ⚠
- p.Asp33Asn Multiple submitters galactose epimerase deficiency ⚠
- p.Glu47Ala Multiple submitters GALE-related disorder ⚠
- p.Gly158Ser Multiple submitters galactose epimerase deficiency ⚠
- p.Gly218Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly218Trp Multiple submitters galactose epimerase deficiency ⚠
- p.Gly237Asp Multiple submitters galactose epimerase deficiency ⚠
- p.Gly270Asp Multiple submitters Inborn genetic diseases ⚠
- p.His148Asn Multiple submitters galactose epimerase deficiency ⚠
- p.Ile252Thr Multiple submitters galactose epimerase deficiency ⚠
- p.Leu333Ile Multiple submitters galactose epimerase deficiency ⚠
- p.Pro201Leu Multiple submitters galactose epimerase deficiency ⚠
- p.Pro293Leu Multiple submitters galactose epimerase deficiency ⚠
- p.Tyr230Cys Multiple submitters galactose epimerase deficiency ⚠
- p.Tyr27Cys Multiple submitters galactose epimerase deficiency ⚠
- p.Tyr308Cys Multiple submitters galactose epimerase deficiency ⚠
- p.Val128Met Multiple submitters galactose epimerase deficiency ⚠
- c.351+12G>A Single submitter
- c.529-22_535dup Single submitter galactose epimerase deficiency
- c.643-25G>A Single submitter galactose epimerase deficiency
- c.873+6C>T Single submitter galactose epimerase deficiency
- c.874-1G>T Single submitter Inborn genetic diseases
- c.-77+168T>G Single submitter galactose epimerase deficiency
- c.-77+205C>G Single submitter galactose epimerase deficiency
- c.-77+340G>C Single submitter galactose epimerase deficiency
- c.*12T>G Single submitter galactose epimerase deficiency
- c.*158G>A Single submitter galactose epimerase deficiency
- c.*178G>A Single submitter galactose epimerase deficiency
- c.*192T>C Single submitter galactose epimerase deficiency
- c.*327A>T Single submitter galactose epimerase deficiency
- c.*69G>A Single submitter galactose epimerase deficiency
- p.Ala11Ser Single submitter galactose epimerase deficiency ⚠
- p.Ala133Pro Single submitter Inborn genetic diseases ⚠
- p.Ala191Ser Single submitter Inborn genetic diseases ⚠
- p.Ala191Val Single submitter Inborn genetic diseases ⚠
- p.Ala216Glu Single submitter ⚠
- p.Ala216Val Single submitter ⚠
- p.Ala254Val Single submitter Inborn genetic diseases ⚠
- p.Ala25Val Single submitter ⚠
- p.Ala287Pro Single submitter Inborn genetic diseases ⚠
- p.Ala309Thr Single submitter ⚠
- p.Ala89= Single submitter galactose epimerase deficiency
- p.Arg184Cys Single submitter galactose epimerase deficiency ⚠
- p.Arg239Gln Single submitter ⚠
- p.Arg265Trp Single submitter ⚠
- p.Arg300Gln Single submitter galactose epimerase deficiency ⚠
- p.Arg300Trp Single submitter ⚠
- p.Arg335Cys Single submitter galactose epimerase deficiency ⚠
- p.Arg40Cys Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Arg75His Single submitter galactose epimerase deficiency ⚠
- p.Asn187Ser Single submitter galactose epimerase deficiency ⚠
- p.Asn37Ser Single submitter galactose epimerase deficiency ⚠
- p.Asp103Gly Single submitter galactose epimerase deficiency ⚠
- p.Asp69Asn Single submitter ⚠
- p.Cys330Tyr Single submitter galactose epimerase deficiency ⚠
- p.Glu117= Single submitter
- p.Glu146Lys Single submitter ⚠
- p.Glu165Gln Single submitter galactose epimerase deficiency ⚠
- p.Glu233_Asp234insSerGlu Single submitter galactose epimerase deficiency
- p.Glu285Lys Single submitter Inborn genetic diseases ⚠
- p.Glu63Gln Single submitter galactose epimerase deficiency ⚠
- p.Glu96Lys Single submitter galactose epimerase deficiency ⚠
- p.Gly12Ser Single submitter Inborn genetic diseases ⚠
- p.Gly137Arg Single submitter galactose epimerase deficiency ⚠
- p.Gly272Ser Single submitter galactose epimerase deficiency ⚠
- p.Gly274Arg Single submitter ⚠
- p.Gly302Cys Single submitter galactose epimerase deficiency ⚠
- p.Gly319Arg Single submitter galactose epimerase deficiency ⚠
- p.Gly325Arg Single submitter galactose epimerase deficiency ⚠
- p.Gly343Ala Single submitter galactose epimerase deficiency ⚠
- p.Gly57Ser Single submitter ⚠
- p.His17Tyr Single submitter ⚠
- p.His243Pro Single submitter galactose epimerase deficiency ⚠
- p.Ile164Val Single submitter Inborn genetic diseases ⚠
- p.Ile204Thr Single submitter galactose epimerase deficiency ⚠
- p.Ile266Leu Single submitter ⚠
- p.Ile266Phe Single submitter galactose epimerase deficiency ⚠
- p.Ile32_Asp33delinsAsn Single submitter
- p.Ile67Val Single submitter Inborn genetic diseases ⚠
- p.Leu142Pro Single submitter galactose epimerase deficiency ⚠
- p.Leu182Pro Single submitter ⚠
- p.Leu318Met Single submitter Inborn genetic diseases ⚠
- p.Leu45Arg Single submitter Inborn genetic diseases ⚠
- p.Lys120Glu Single submitter galactose epimerase deficiency ⚠
- p.Lys291= Single submitter galactose epimerase deficiency
- p.Met65Thr Single submitter galactose epimerase deficiency ⚠
- p.Phe162Leu Single submitter ⚠
- p.Phe163Cys Single submitter galactose epimerase deficiency ⚠
- p.Phe226Cys Single submitter Inborn genetic diseases ⚠
- p.Pro201Ser Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Ser160Phe Single submitter Inborn genetic diseases ⚠
- p.Ser97Leu Single submitter galactose epimerase deficiency ⚠
- p.Thr110Ala Single submitter galactose epimerase deficiency ⚠
- p.Thr18Met Single submitter ⚠
- p.Thr271Met Single submitter galactose epimerase deficiency ⚠
- p.Thr346Met Single submitter ⚠
- p.Trp334Arg Single submitter galactose epimerase deficiency ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Tyr211Cys Single submitter ⚠
- p.Tyr294His Single submitter Inborn genetic diseases ⚠
- p.Val107Ile Single submitter galactose epimerase deficiency ⚠
- p.Val238Ala Single submitter galactose epimerase deficiency ⚠
- p.Val297Met Single submitter ⚠
- p.Val304Met Single submitter Inborn genetic diseases ⚠
- p.Val5Leu Single submitter galactose epimerase deficiency ⚠
- c.795+2T>C No assertion criteria GALE-related disorder