GALK1 — 542 ClinVar variants
All ClinVar germline GALK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
28 Pathogenic · 27 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 18 Conflicting · 12 Benign · 6 Benign/Likely benign · 253 Likely benign · 143 Uncertain significance
Full GALK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GALK1 p.Ala249Val
Conflicting
Single submitter
galactokinase deficiency
-
GALK1 p.Ala384Pro
Conflicting
Single submitter
galactokinase deficiency
-
GALK1 p.Arg248Gln
Conflicting
Single submitter
GALK1-related disorder
-
GALK1 p.Gly136Arg
Conflicting
Single submitter
galactokinase deficiency
-
GALK1 p.Gly137Asp
Conflicting
Single submitter
galactokinase deficiency
-
GALK1 p.Gly36Arg
Conflicting
Single submitter
galactokinase deficiency
-
GALK1 p.Thr288Met
Conflicting
Single submitter
galactokinase deficiency
-
GALK1 p.Val32Met
Conflicting
Single submitter
galactokinase deficiency
Predictors lean, ClinVar uncertain 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GALK1 p.Ala289Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Arg286Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Arg342Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Asn224Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Asn39Ser
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Gln89His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Gly373Ser
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Ile184Met
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Phe378Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Pro28Ser
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Pro35Leu
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Thr162Arg
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Thr61Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Ala148Ser
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Ala14Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala165Asp
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Ala167Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala232Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala249Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala266Thr
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Ala302Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala364Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala95Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg105Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg204Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg228His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg240Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg276Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg277Gln
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg277Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg279Gln
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg287Cys
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg287His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg305His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg342His
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg366Gln
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg366Gly
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg97Cys
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg97His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Asn39Thr
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Cys203Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Cys391Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- GALK1 p.Gln6Glu Uncertain significance Single submitter
-
GALK1 p.Glu29Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Gly137Arg
Uncertain significance
Single submitter
galactokinase deficiency
- GALK1 p.Gly193Glu Uncertain significance Single submitter
-
GALK1 p.Gly196Asp
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Gly196Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Gly274Asp
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Gly374Arg
Uncertain significance
Single submitter
galactokinase deficiency
- GALK1 p.Gly50Val Uncertain significance Single submitter
-
GALK1 p.Gly65Ser
Uncertain significance
Single submitter
galactokinase deficiency
- GALK1 p.His280Pro Uncertain significance Single submitter
-
GALK1 p.His367Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ile201Thr
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Ile41Phe
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Leu263Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Leu333Arg
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Leu392Ser
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Lys272Glu
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Phe90Leu
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Pro158Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ser214Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ser381Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Thr352Lys
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Thr377Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Thr78Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Tyr116Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Val32Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Val353Met
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg204Lys
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Arg239Gln
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Asp159Val
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Gln172Arg
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Gln194His
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Gly283Glu
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Ile201Leu
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Leu122Ile
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Leu30Val
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Leu333Pro
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Lys111Arg
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Ser141Arg
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Ser160Leu
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Thr77Ser
Uncertain significance
No assertion criteria
galactokinase deficiency
Predictors split 41
The independent predictors disagree with each other — read with care.
-
GALK1 p.Ala19Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Arg248Trp
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Arg276Trp
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Arg366Trp
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Arg68Cys
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Arg68Leu
Uncertain significance
Multiple submitters
galactokinase deficiency
-
GALK1 p.Glu235Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Leu306Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Thr344Met
Pathogenic/Likely pathogenic
Multiple submitters
galactokinase deficiency
-
GALK1 p.Val128Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GALK1 p.Ala127Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala167Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala198Val
Conflicting
Single submitter
galactokinase deficiency
-
GALK1 p.Ala26Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala294Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ala332Val
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg240Gln
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg241Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg279Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg305Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg366Pro
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg68His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Arg87Gln
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Arg87Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Asn224Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Ile201Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Leu13Met
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Leu206Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Leu380Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Met307Leu
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Met55Val
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Ser310Gly
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Thr352Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Val147Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GALK1 p.Val169Met Uncertain significance Single submitter
-
GALK1 p.Val220Met
Uncertain significance
Single submitter
galactokinase deficiency
-
GALK1 p.Val258Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GALK1 p.Glu235Gly
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Gly179Arg
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Gly25Arg
Uncertain significance
No assertion criteria
galactokinase deficiency
-
GALK1 p.Leu355Val
Uncertain significance
No assertion criteria
galactokinase deficiency
All GALK1 variants
Pathogenic 28
- p.Gln382Ter Multiple submitters galactokinase deficiency
- p.Gly137fs Multiple submitters galactokinase deficiency
- p.Leu356Pro Multiple submitters galactokinase deficiency
- p.Met1Val Multiple submitters galactokinase deficiency
- c.1107+1G>A Single submitter galactokinase deficiency
- p.Ala3fs Single submitter galactokinase deficiency
- p.Arg204fs Single submitter galactokinase deficiency
- p.Arg287fs Single submitter galactokinase deficiency
- p.Arg68fs Single submitter galactokinase deficiency
- p.Asp317_Tyr318insTer Single submitter galactokinase deficiency
- p.Gln290Ter Single submitter galactokinase deficiency
- p.Glu23Ter Single submitter galactokinase deficiency
- p.Glu257fs Single submitter galactokinase deficiency
- p.Glu261fs Single submitter galactokinase deficiency
- p.Glu284fs Single submitter galactokinase deficiency
- p.Glu29fs Single submitter galactokinase deficiency
- p.Glu80Ter Single submitter galactokinase deficiency
- p.Leu139Pro Single submitter galactokinase deficiency
- p.Met1Leu Single submitter galactokinase deficiency
- p.Met55fs Single submitter galactokinase deficiency
- p.Phe177fs Single submitter galactokinase deficiency
- p.Thr354fs Single submitter galactokinase deficiency
- p.Tyr300_Arg301delinsTer Single submitter galactokinase deficiency
- p.Tyr318Ter Single submitter galactokinase deficiency
- p.Val281fs Single submitter galactokinase deficiency
- p.Val338fs Single submitter galactokinase deficiency
- p.Asn226fs No assertion criteria galactokinase deficiency
- p.Ser254fs No assertion criteria galactokinase deficiency
Pathogenic/Likely pathogenic 27
- c.611+1G>T Multiple submitters galactokinase deficiency
- c.793+1G>T Multiple submitters galactokinase deficiency
- c.793+2T>C Multiple submitters galactokinase deficiency
- c.793+2T>G Multiple submitters galactokinase deficiency
- p.Arg256Trp Multiple submitters GALK1-related disorder
- p.Arg301Ter Multiple submitters galactokinase deficiency
- p.Asp70fs Multiple submitters galactokinase deficiency
- p.Cys170Ter Multiple submitters galactokinase deficiency
- p.Gln172Ter Multiple submitters galactokinase deficiency
- p.Gln369Ter Multiple submitters galactokinase deficiency
- p.Gln89Ter Multiple submitters galactokinase deficiency
- p.Gln96Ter Multiple submitters galactokinase deficiency
- p.Glu100Ter Multiple submitters galactokinase deficiency
- p.Gly138fs Multiple submitters galactokinase deficiency
- p.Gly346Ser Multiple submitters galactokinase deficiency
- p.Gly349Ser Multiple submitters galactokinase deficiency
- p.Ile285fs Multiple submitters galactokinase deficiency
- p.Leu122fs Multiple submitters galactokinase deficiency
- p.Met1Ile Multiple submitters galactokinase deficiency
- p.Pro237fs Multiple submitters galactokinase deficiency
- p.Pro28Thr Multiple submitters galactokinase deficiency
- p.Pro35fs Multiple submitters galactokinase deficiency
- p.Ser33Ter Multiple submitters galactokinase deficiency
- p.Thr344Met Multiple submitters galactokinase deficiency ⚠
- p.Thr352fs Multiple submitters galactokinase deficiency
- p.Tyr236Ter Multiple submitters galactokinase deficiency
- p.Val110fs Multiple submitters galactokinase deficiency
Likely pathogenic 55
- c.355+1G>A Multiple submitters galactokinase deficiency
- p.Glu174Lys Multiple submitters galactokinase deficiency
- p.His44Tyr Multiple submitters galactokinase deficiency
- p.Met307del Multiple submitters galactokinase deficiency
- p.Thr288fs Multiple submitters galactokinase deficiency
- c.166-1G>C Single submitter galactokinase deficiency
- c.166-5_175del Single submitter galactokinase deficiency
- c.166-5_227dup Single submitter galactokinase deficiency
- c.475+1G>A Single submitter galactokinase deficiency
- c.476-1G>C Single submitter galactokinase deficiency
- c.476-2A>G Single submitter galactokinase deficiency
- c.612-1G>A Single submitter galactokinase deficiency
- c.612-1G>C Single submitter galactokinase deficiency
- c.612-1G>T Single submitter galactokinase deficiency
- c.944+1G>T Single submitter galactokinase deficiency
- c.945-36_992del Single submitter galactokinase deficiency
- p.Ala247fs Single submitter galactokinase deficiency
- p.Ala291fs Single submitter galactokinase deficiency
- p.Arg279fs Single submitter galactokinase deficiency
- p.Arg297fs Single submitter galactokinase deficiency
- p.Arg366fs Single submitter galactokinase deficiency
- p.Cys203Ter Single submitter galactokinase deficiency
- p.Gln154Ter Single submitter galactokinase deficiency
- p.Gln194Ter Single submitter galactokinase deficiency
- p.Gln259Ter Single submitter galactokinase deficiency
- p.Gln49fs Single submitter galactokinase deficiency
- p.Glu146fs Single submitter galactokinase deficiency
- p.Glu174Ter Single submitter galactokinase deficiency
- p.Glu262Ter Single submitter galactokinase deficiency
- p.Glu264fs Single submitter galactokinase deficiency
- p.Glu273fs Single submitter galactokinase deficiency
- p.Glu84Ter Single submitter galactokinase deficiency
- p.Gly183fs Single submitter galactokinase deficiency
- p.His229fs Single submitter galactokinase deficiency
- p.Leu135fs Single submitter galactokinase deficiency
- p.Lys111Ter Single submitter galactokinase deficiency
- p.Lys69Ter Single submitter galactokinase deficiency
- p.Met192fs Single submitter galactokinase deficiency
- p.Met1Thr Single submitter galactokinase deficiency
- p.Pro134fs Single submitter galactokinase deficiency
- p.Pro362fs Single submitter galactokinase deficiency
- p.Ser142fs Single submitter galactokinase deficiency
- p.Ser160Ter Single submitter galactokinase deficiency
- p.Ser176fs Single submitter galactokinase deficiency
- p.Trp106Ter Single submitter galactokinase deficiency
- p.Tyr117fs Single submitter galactokinase deficiency
- p.Tyr300fs Single submitter galactokinase deficiency
- p.Tyr339Ter Single submitter galactokinase deficiency
- p.Tyr379Ter Single submitter galactokinase deficiency
- p.Val130fs Single submitter galactokinase deficiency
- p.Val270fs Single submitter galactokinase deficiency
- p.Val281Met Single submitter galactokinase deficiency
- p.Val282fs Single submitter galactokinase deficiency
- p.Glu27Ter No assertion criteria galactokinase deficiency
- p.Val238fs No assertion criteria galactokinase deficiency
Conflicting classifications of pathogenicity 18
- c.165+6G>A Single submitter galactokinase deficiency
- c.-22T>C Single submitter galactokinase deficiency
- p.Ala107= Single submitter galactokinase deficiency
- p.Ala198Val Single submitter galactokinase deficiency ⚠
- p.Ala249= Single submitter galactokinase deficiency
- p.Ala249Val Single submitter galactokinase deficiency ⚠
- p.Ala384= Single submitter galactokinase deficiency
- p.Ala384Pro Single submitter galactokinase deficiency ⚠
- p.Arg248Gln Single submitter GALK1-related disorder ⚠
- p.Glu22= Single submitter galactokinase deficiency
- p.Glu262= Single submitter galactokinase deficiency
- p.Gly136Arg Single submitter galactokinase deficiency ⚠
- p.Gly137Asp Single submitter galactokinase deficiency ⚠
- p.Gly36Arg Single submitter galactokinase deficiency ⚠
- p.Leu263= Single submitter galactokinase deficiency
- p.Phe348= Single submitter galactokinase deficiency
- p.Thr288Met Single submitter galactokinase deficiency ⚠
- p.Val32Met Single submitter galactokinase deficiency ⚠
Benign 12
- c.165+233C>T Multiple submitters
- c.356-32C>T Multiple submitters galactokinase deficiency
- c.476-74C>A Multiple submitters galactokinase deficiency
- p.His280= Multiple submitters galactokinase deficiency
- c.165+8dup Single submitter galactokinase deficiency
- c.611+18C>T Single submitter galactokinase deficiency
- c.611+56del Single submitter
- c.611+9C>T Single submitter galactokinase deficiency
- c.794-126T>C Single submitter
- p.Arg286Gln Single submitter galactokinase deficiency
- p.Arg312Cys Single submitter galactokinase deficiency
- p.Val389= Single submitter galactokinase deficiency
Benign/Likely benign 6
- c.1107+5G>A Multiple submitters galactokinase deficiency
- c.1108-40C>T Multiple submitters galactokinase deficiency
- c.611+34G>A Multiple submitters galactokinase deficiency
- p.Glu319= Multiple submitters galactokinase deficiency
- p.Gly373= Multiple submitters junctional epidermolysis bullosa with pyloric atresia
- p.Val329= Multiple submitters galactokinase deficiency
Likely benign 253
- c.612-7A>C Multiple submitters galactokinase deficiency
- c.*32C>T Multiple submitters galactokinase deficiency
- p.Asp316= Multiple submitters galactokinase deficiency
- p.His367= Multiple submitters galactokinase deficiency
- p.Leu72= Multiple submitters galactokinase deficiency
- p.Tyr372= Multiple submitters Inborn genetic diseases
- p.Val282= Multiple submitters galactokinase deficiency
- c.1107+12C>T Single submitter galactokinase deficiency
- c.1107+14A>G Single submitter galactokinase deficiency
- c.1107+18C>T Single submitter galactokinase deficiency
- c.1107+7G>A Single submitter galactokinase deficiency
- c.1107+9G>A Single submitter galactokinase deficiency
- c.1108-11G>A Single submitter galactokinase deficiency
- c.1108-12C>T Single submitter galactokinase deficiency
- c.1108-15G>A Single submitter galactokinase deficiency
- c.1108-17C>A Single submitter galactokinase deficiency
- c.1108-17C>T Single submitter galactokinase deficiency
- c.1108-18C>G Single submitter galactokinase deficiency
- c.1108-19C>T Single submitter galactokinase deficiency
- c.1108-20C>T Single submitter galactokinase deficiency
- c.165+11G>C Single submitter galactokinase deficiency
- c.165+13A>T Single submitter galactokinase deficiency
- c.165+14C>A Single submitter galactokinase deficiency
- c.165+15G>A Single submitter galactokinase deficiency
- c.165+172T>A Single submitter
- c.165+20G>T Single submitter galactokinase deficiency
- c.166-10C>T Single submitter galactokinase deficiency
- c.166-12C>G Single submitter galactokinase deficiency
- c.166-14G>A Single submitter galactokinase deficiency
- c.166-18_166-3dup Single submitter galactokinase deficiency
- c.166-5_166-4delinsAT Single submitter galactokinase deficiency
- c.166-6dup Single submitter galactokinase deficiency
- c.166-6T>C Single submitter galactokinase deficiency
- c.166-7C>A Single submitter galactokinase deficiency
- c.166-8C>A Single submitter galactokinase deficiency
- c.166-9T>C Single submitter galactokinase deficiency
- c.355+10C>G Single submitter galactokinase deficiency
- c.355+11C>G Single submitter galactokinase deficiency
- c.355+14G>T Single submitter galactokinase deficiency
- c.355+7G>C Single submitter galactokinase deficiency
- c.355+8G>A Single submitter galactokinase deficiency
- c.355+8G>T Single submitter galactokinase deficiency
- c.355+9C>A Single submitter galactokinase deficiency
- c.356-10T>C Single submitter galactokinase deficiency
- c.356-11T>G Single submitter galactokinase deficiency
- c.356-19C>T Single submitter galactokinase deficiency
- c.356-20A>G Single submitter galactokinase deficiency
- c.356-8C>A Single submitter galactokinase deficiency
- c.356-8C>T Single submitter galactokinase deficiency
- c.475+14C>T Single submitter galactokinase deficiency
- c.475+19C>G Single submitter galactokinase deficiency
- c.475+7G>C Single submitter galactokinase deficiency
- c.476-10T>C Single submitter galactokinase deficiency
- c.476-17C>T Single submitter galactokinase deficiency
- c.476-17dup Single submitter galactokinase deficiency
- c.476-23C>A Single submitter
- c.476-8_476-4del Single submitter galactokinase deficiency
- c.476-9G>A Single submitter galactokinase deficiency
- c.611+10G>A Single submitter galactokinase deficiency
- c.611+11C>A Single submitter galactokinase deficiency
- c.611+15C>A Single submitter galactokinase deficiency
- c.611+15C>T Single submitter galactokinase deficiency
- c.611+19G>A Single submitter galactokinase deficiency
- c.611+19G>T Single submitter galactokinase deficiency
- c.612-16T>C Single submitter galactokinase deficiency
- c.612-17T>C Single submitter galactokinase deficiency
- c.612-18A>G Single submitter galactokinase deficiency
- c.612-20C>G Single submitter galactokinase deficiency
- c.612-4C>G Single submitter galactokinase deficiency
- c.612-6C>T Single submitter galactokinase deficiency
- c.612-8C>T Single submitter galactokinase deficiency
- c.793+12C>G Single submitter galactokinase deficiency
- c.793+13A>G Single submitter galactokinase deficiency
- c.793+15G>A Single submitter galactokinase deficiency
- c.793+192A>C Single submitter
- c.793+19C>T Single submitter galactokinase deficiency
- c.794-12T>C Single submitter galactokinase deficiency
- c.794-14T>C Single submitter galactokinase deficiency
- c.794-17T>G Single submitter galactokinase deficiency
- c.794-208G>A Single submitter
- c.794-4C>A Single submitter galactokinase deficiency
- c.794-6C>G Single submitter galactokinase deficiency
- c.794-6C>T Single submitter galactokinase deficiency
- c.944+16C>T Single submitter galactokinase deficiency
- c.944+17G>A Single submitter galactokinase deficiency
- c.944+20C>G Single submitter galactokinase deficiency
- c.945-14T>C Single submitter galactokinase deficiency
- c.945-20C>A Single submitter galactokinase deficiency
- c.945-4G>A Single submitter galactokinase deficiency
- p.Ala10= Single submitter galactokinase deficiency
- p.Ala14= Single submitter galactokinase deficiency
- p.Ala165= Single submitter galactokinase deficiency
- p.Ala167= Single submitter galactokinase deficiency
- p.Ala173= Single submitter galactokinase deficiency
- p.Ala19= Single submitter galactokinase deficiency
- p.Ala198= Single submitter galactokinase deficiency
- p.Ala219= Single submitter galactokinase deficiency
- p.Ala247= Single submitter galactokinase deficiency
- p.Ala26= Single submitter galactokinase deficiency
- p.Ala278= Single submitter galactokinase deficiency
- p.Ala289= Single submitter galactokinase deficiency
- p.Ala292= Single submitter galactokinase deficiency
- p.Ala293= Single submitter galactokinase deficiency
- p.Ala294= Single submitter galactokinase deficiency
- p.Ala31= Single submitter galactokinase deficiency
- p.Ala332= Single submitter galactokinase deficiency
- p.Ala34= Single submitter galactokinase deficiency
- p.Ala364= Single submitter galactokinase deficiency
- p.Ala387= Single submitter galactokinase deficiency
- p.Ala82= Single submitter galactokinase deficiency
- p.Arg166= Single submitter galactokinase deficiency
- p.Arg21= Single submitter galactokinase deficiency
- p.Arg239= Single submitter galactokinase deficiency
- p.Arg248= Single submitter galactokinase deficiency
- p.Arg267= Single submitter galactokinase deficiency
- p.Arg277= Single submitter galactokinase deficiency
- p.Arg279= Single submitter galactokinase deficiency
- p.Arg286= Single submitter galactokinase deficiency
- p.Arg301= Single submitter galactokinase deficiency
- p.Arg305= Single submitter galactokinase deficiency
- p.Arg312His Single submitter galactokinase deficiency
- p.Arg342= Single submitter galactokinase deficiency
- p.Arg366= Single submitter galactokinase deficiency
- p.Arg68= Single submitter galactokinase deficiency
- p.Arg87= Single submitter galactokinase deficiency
- p.Arg97= Single submitter galactokinase deficiency
- p.Asn108= Single submitter galactokinase deficiency
- p.Asn39= Single submitter galactokinase deficiency
- p.Asn48= Single submitter galactokinase deficiency
- p.Asp215= Single submitter galactokinase deficiency
- p.Asp326= Single submitter galactokinase deficiency
- p.Asp385= Single submitter galactokinase deficiency
- p.Asp46= Single submitter galactokinase deficiency
- p.Cys157= Single submitter galactokinase deficiency
- p.Cys322= Single submitter galactokinase deficiency
- p.Gln115= Single submitter galactokinase deficiency
- p.Gln155= Single submitter galactokinase deficiency
- p.Gln172= Single submitter galactokinase deficiency
- p.Gln49= Single submitter galactokinase deficiency
- p.Gln6= Single submitter galactokinase deficiency
- p.Glu100= Single submitter galactokinase deficiency
- p.Glu11= Single submitter galactokinase deficiency
- p.Glu146= Single submitter galactokinase deficiency
- p.Glu23= Single submitter galactokinase deficiency
- p.Glu253= Single submitter galactokinase deficiency
- p.Glu257= Single submitter galactokinase deficiency
- p.Glu27= Single submitter galactokinase deficiency
- p.Glu273= Single submitter galactokinase deficiency
- p.Glu330= Single submitter galactokinase deficiency
- p.Gly112= Single submitter galactokinase deficiency
- p.Gly124= Single submitter galactokinase deficiency
- p.Gly136= Single submitter galactokinase deficiency
- p.Gly179= Single submitter galactokinase deficiency
- p.Gly25= Single submitter galactokinase deficiency
- p.Gly274= Single submitter galactokinase deficiency
- p.Gly283= Single submitter galactokinase deficiency
- p.Gly304= Single submitter galactokinase deficiency
- p.Gly337= Single submitter galactokinase deficiency
- p.Gly345= Single submitter galactokinase deficiency
- p.Gly374= Single submitter galactokinase deficiency
- p.Gly50= Single submitter galactokinase deficiency
- p.Gly65= Single submitter galactokinase deficiency
- p.His197= Single submitter galactokinase deficiency
- p.His311= Single submitter galactokinase deficiency
- p.His363= Single submitter galactokinase deficiency
- p.His371= Single submitter galactokinase deficiency
- p.Ile163= Single submitter galactokinase deficiency
- p.Ile41= Single submitter galactokinase deficiency
- p.Leu13= Single submitter galactokinase deficiency
- p.Leu139= Single submitter galactokinase deficiency
- p.Leu153= Single submitter galactokinase deficiency
- p.Leu191= Single submitter galactokinase deficiency
- p.Leu200= Single submitter galactokinase deficiency
- p.Leu210= Single submitter galactokinase deficiency
- p.Leu213= Single submitter galactokinase deficiency
- p.Leu218= Single submitter galactokinase deficiency
- p.Leu221= Single submitter galactokinase deficiency
- p.Leu231= Single submitter galactokinase deficiency
- p.Leu250= Single submitter galactokinase deficiency
- p.Leu255= Single submitter galactokinase deficiency
- p.Leu260= Single submitter galactokinase deficiency
- p.Leu269= Single submitter galactokinase deficiency
- p.Leu30= Single submitter galactokinase deficiency
- p.Leu306= Single submitter galactokinase deficiency
- p.Leu314= Single submitter galactokinase deficiency
- p.Leu325= Single submitter galactokinase deficiency
- p.Leu328= Single submitter galactokinase deficiency
- p.Leu380= Single submitter galactokinase deficiency
- p.Leu390= Single submitter galactokinase deficiency
- p.Leu392= Single submitter galactokinase deficiency
- p.Leu4= Single submitter galactokinase deficiency
- p.Leu51= Single submitter galactokinase deficiency
- p.Leu53= Single submitter galactokinase deficiency
- p.Leu57= Single submitter galactokinase deficiency
- p.Leu59= Single submitter galactokinase deficiency
- p.Leu63= Single submitter galactokinase deficiency
- p.Leu88= Single submitter galactokinase deficiency
- p.Leu92= Single submitter galactokinase deficiency
- p.Leu99= Single submitter galactokinase deficiency
- p.Lys195= Single submitter galactokinase deficiency
- p.Lys252= Single submitter galactokinase deficiency
- p.Lys69= Single submitter galactokinase deficiency
- p.Phe177= Single submitter galactokinase deficiency
- p.Phe20= Single submitter galactokinase deficiency
- p.Phe303= Single submitter galactokinase deficiency
- p.Pro123= Single submitter galactokinase deficiency
- p.Pro181= Single submitter galactokinase deficiency
- p.Pro28= Single submitter galactokinase deficiency
- p.Pro35= Single submitter galactokinase deficiency
- p.Pro54= Single submitter galactokinase deficiency
- p.Pro67= Single submitter galactokinase deficiency
- p.Pro7= Single submitter galactokinase deficiency
- p.Pro85= Single submitter galactokinase deficiency
- p.Pro91= Single submitter galactokinase deficiency
- p.Pro93= Single submitter galactokinase deficiency
- p.Ser132= Single submitter galactokinase deficiency
- p.Ser140= Single submitter galactokinase deficiency
- p.Ser144= Single submitter galactokinase deficiency
- p.Ser160= Single submitter galactokinase deficiency
- p.Ser233= Single submitter galactokinase deficiency
- p.Ser310= Single submitter galactokinase deficiency
- p.Ser313= Single submitter galactokinase deficiency
- p.Ser359= Single submitter galactokinase deficiency
- p.Ser98= Single submitter galactokinase deficiency
- p.Thr149= Single submitter galactokinase deficiency
- p.Thr162= Single submitter galactokinase deficiency
- p.Thr288= Single submitter galactokinase deficiency
- p.Thr344= Single submitter galactokinase deficiency
- p.Thr377= Single submitter galactokinase deficiency
- p.Thr45= Single submitter galactokinase deficiency
- p.Thr61= Single submitter galactokinase deficiency
- p.Thr77= Single submitter galactokinase deficiency
- p.Thr78= Single submitter galactokinase deficiency
- p.Tyr116= Single submitter galactokinase deficiency
- p.Tyr117= Single submitter galactokinase deficiency
- p.Tyr150= Single submitter galactokinase deficiency
- p.Tyr236= Single submitter galactokinase deficiency
- p.Tyr300= Single submitter galactokinase deficiency
- p.Tyr339= Single submitter galactokinase deficiency
- p.Tyr379= Single submitter galactokinase deficiency
- p.Tyr47= Single submitter galactokinase deficiency
- p.Val113= Single submitter galactokinase deficiency
- p.Val133= Single submitter galactokinase deficiency
- p.Val147= Single submitter galactokinase deficiency
- p.Val169= Single submitter galactokinase deficiency
- p.Val220= Single submitter galactokinase deficiency
- p.Val227= Single submitter galactokinase deficiency
- p.Val238= Single submitter galactokinase deficiency
- p.Val258= Single submitter galactokinase deficiency
- p.Val281= Single submitter galactokinase deficiency
- p.Val335= Single submitter galactokinase deficiency
- p.Val38= Single submitter galactokinase deficiency
- c.355+4T>G No assertion criteria GALK1-related disorder
Uncertain significance 143
- p.Ala19Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala289Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg248Trp Multiple submitters galactokinase deficiency ⚠
- p.Arg276Trp Multiple submitters galactokinase deficiency ⚠
- p.Arg286Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg342Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg366Trp Multiple submitters galactokinase deficiency ⚠
- p.Arg68Cys Multiple submitters galactokinase deficiency ⚠
- p.Arg68Leu Multiple submitters galactokinase deficiency ⚠
- p.Asn224Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn39Ser Multiple submitters galactokinase deficiency ⚠
- p.Asp317Asn Multiple submitters galactokinase deficiency
- p.Gln89His Multiple submitters Inborn genetic diseases ⚠
- p.Glu235Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly373Ser Multiple submitters galactokinase deficiency ⚠
- p.Ile184Met Multiple submitters galactokinase deficiency ⚠
- p.Leu306Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met365Thr Multiple submitters Inborn genetic diseases
- p.Phe378Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro28Ser Multiple submitters galactokinase deficiency ⚠
- p.Pro35Leu Multiple submitters galactokinase deficiency ⚠
- p.Thr162Arg Multiple submitters galactokinase deficiency ⚠
- p.Thr61Met Multiple submitters Inborn genetic diseases ⚠
- p.Val128Met Multiple submitters Inborn genetic diseases ⚠
- c.1108_1110delGAG Single submitter
- c.944+5G>A Single submitter
- c.-11del Single submitter
- c.-27A>C Single submitter galactokinase deficiency
- c.*85C>T Single submitter galactokinase deficiency
- p.Ala127Ser Single submitter Inborn genetic diseases ⚠
- p.Ala148Ser Single submitter galactokinase deficiency ⚠
- p.Ala14Thr Single submitter Inborn genetic diseases ⚠
- p.Ala165Asp Single submitter galactokinase deficiency ⚠
- p.Ala167Thr Single submitter Inborn genetic diseases ⚠
- p.Ala167Val Single submitter Inborn genetic diseases ⚠
- p.Ala232Val Single submitter Inborn genetic diseases ⚠
- p.Ala249Thr Single submitter Inborn genetic diseases ⚠
- p.Ala266Thr Single submitter galactokinase deficiency ⚠
- p.Ala26Pro Single submitter Inborn genetic diseases ⚠
- p.Ala294Thr Single submitter Inborn genetic diseases ⚠
- p.Ala302Val Single submitter Inborn genetic diseases ⚠
- p.Ala332Val Single submitter galactokinase deficiency ⚠
- p.Ala364Thr Single submitter Inborn genetic diseases ⚠
- p.Ala95Val Single submitter Inborn genetic diseases ⚠
- p.Arg105Gln Single submitter Inborn genetic diseases ⚠
- p.Arg204Ser Single submitter Inborn genetic diseases ⚠
- p.Arg228His Single submitter Inborn genetic diseases ⚠
- p.Arg240Gln Single submitter galactokinase deficiency ⚠
- p.Arg240Trp Single submitter Inborn genetic diseases ⚠
- p.Arg241Cys Single submitter Inborn genetic diseases ⚠
- p.Arg276Gln Single submitter Inborn genetic diseases ⚠
- p.Arg277Gln Single submitter galactokinase deficiency ⚠
- p.Arg277Trp Single submitter Inborn genetic diseases ⚠
- p.Arg279Gln Single submitter galactokinase deficiency ⚠
- p.Arg279Trp Single submitter Inborn genetic diseases ⚠
- p.Arg287Cys Single submitter galactokinase deficiency ⚠
- p.Arg287His Single submitter Inborn genetic diseases ⚠
- p.Arg305Cys Single submitter Inborn genetic diseases ⚠
- p.Arg305His Single submitter Inborn genetic diseases ⚠
- p.Arg342His Single submitter galactokinase deficiency ⚠
- p.Arg366Gln Single submitter galactokinase deficiency ⚠
- p.Arg366Gly Single submitter galactokinase deficiency ⚠
- p.Arg366Pro Single submitter galactokinase deficiency ⚠
- p.Arg68His Single submitter Inborn genetic diseases ⚠
- p.Arg87Gln Single submitter galactokinase deficiency ⚠
- p.Arg87Trp Single submitter Inborn genetic diseases ⚠
- p.Arg97Cys Single submitter galactokinase deficiency ⚠
- p.Arg97His Single submitter Inborn genetic diseases ⚠
- p.Asn224Ser Single submitter Inborn genetic diseases ⚠
- p.Asn39Thr Single submitter galactokinase deficiency ⚠
- p.Cys203Gly Single submitter Inborn genetic diseases ⚠
- p.Cys391Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln6Glu Single submitter ⚠
- p.Glu29Gln Single submitter Inborn genetic diseases ⚠
- p.Gly137Arg Single submitter galactokinase deficiency ⚠
- p.Gly193Glu Single submitter ⚠
- p.Gly196Asp Single submitter galactokinase deficiency ⚠
- p.Gly196Ser Single submitter Inborn genetic diseases ⚠
- p.Gly274Asp Single submitter galactokinase deficiency ⚠
- p.Gly374Arg Single submitter galactokinase deficiency ⚠
- p.Gly374Trp Single submitter Inborn genetic diseases
- p.Gly50Val Single submitter ⚠
- p.Gly65Ser Single submitter galactokinase deficiency ⚠
- p.His280Pro Single submitter ⚠
- p.His367Arg Single submitter Inborn genetic diseases ⚠
- p.His367del Single submitter galactokinase deficiency
- p.Ile201Met Single submitter Inborn genetic diseases ⚠
- p.Ile201Thr Single submitter galactokinase deficiency ⚠
- p.Ile41Phe Single submitter galactokinase deficiency ⚠
- p.Leu13Met Single submitter galactokinase deficiency ⚠
- p.Leu206Trp Single submitter Inborn genetic diseases ⚠
- p.Leu263Pro Single submitter Inborn genetic diseases ⚠
- p.Leu333Arg Single submitter galactokinase deficiency ⚠
- p.Leu380Pro Single submitter Inborn genetic diseases ⚠
- p.Leu392Ser Single submitter galactokinase deficiency ⚠
- p.Lys272Glu Single submitter galactokinase deficiency ⚠
- p.Met307Leu Single submitter galactokinase deficiency ⚠
- p.Met55Val Single submitter galactokinase deficiency ⚠
- p.Phe90Leu Single submitter galactokinase deficiency ⚠
- p.Pro158Arg Single submitter Inborn genetic diseases ⚠
- p.Ser214Leu Single submitter Inborn genetic diseases ⚠
- p.Ser310Gly Single submitter galactokinase deficiency ⚠
- p.Ser381Cys Single submitter Inborn genetic diseases ⚠
- p.Thr352Ala Single submitter Inborn genetic diseases ⚠
- p.Thr352Lys Single submitter galactokinase deficiency ⚠
- p.Thr377Asn Single submitter Inborn genetic diseases ⚠
- p.Thr78Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr116Cys Single submitter Inborn genetic diseases ⚠
- p.Val147Ala Single submitter Inborn genetic diseases ⚠
- p.Val169Met Single submitter ⚠
- p.Val220Met Single submitter galactokinase deficiency ⚠
- p.Val258Ile Single submitter Inborn genetic diseases ⚠
- p.Val32Leu Single submitter Inborn genetic diseases ⚠
- p.Val353Met Single submitter galactokinase deficiency ⚠
- c.165+4A>G No assertion criteria galactokinase deficiency
- c.944+3G>A No assertion criteria galactokinase deficiency
- c.-33_-20dup No assertion criteria galactokinase deficiency
- c.*22+804_*22+808del No assertion criteria galactokinase deficiency
- c.*620G>A No assertion criteria galactokinase deficiency
- p.Ala26_Glu27insGlyAla No assertion criteria galactokinase deficiency
- p.Arg204Lys No assertion criteria galactokinase deficiency ⚠
- p.Arg239Gln No assertion criteria galactokinase deficiency ⚠
- p.Asp159Val No assertion criteria galactokinase deficiency ⚠
- p.Gln172Arg No assertion criteria galactokinase deficiency ⚠
- p.Gln172del No assertion criteria galactokinase deficiency
- p.Gln194His No assertion criteria galactokinase deficiency ⚠
- p.Glu235Gly No assertion criteria galactokinase deficiency ⚠
- p.Gly179Arg No assertion criteria galactokinase deficiency ⚠
- p.Gly25Arg No assertion criteria galactokinase deficiency ⚠
- p.Gly283Glu No assertion criteria galactokinase deficiency ⚠
- p.Ile201Leu No assertion criteria galactokinase deficiency ⚠
- p.Leu122Ile No assertion criteria galactokinase deficiency ⚠
- p.Leu30Val No assertion criteria galactokinase deficiency ⚠
- p.Leu333Pro No assertion criteria galactokinase deficiency ⚠
- p.Leu355= No assertion criteria galactokinase deficiency
- p.Leu355Val No assertion criteria galactokinase deficiency ⚠
- p.Lys111Arg No assertion criteria galactokinase deficiency ⚠
- p.Pro121= No assertion criteria galactokinase deficiency
- p.Ser141Arg No assertion criteria galactokinase deficiency ⚠
- p.Ser160Leu No assertion criteria galactokinase deficiency ⚠
- p.Thr77Ser No assertion criteria galactokinase deficiency ⚠
- p.Val320= No assertion criteria galactokinase deficiency
- p.Val64= No assertion criteria galactokinase deficiency