Total 123 pathogenic variants reported for Deficiency of galactokinase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000154.2(GALK1):c.94G>A (p.Val32Met) SNV
Germline		 Chr17:75765043 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA117655 rs_104894576

6 SubmittersRCV000005982
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) SNV
Germline		 Chr17:75764014 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA117656 rs_104894577

2 SubmittersRCV000005983
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) SNV
Germline		 Chr17:75765055 Pathogenic Deficiency of galactokinase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117658 rs_104894572

10 SubmittersRCV000005984RCV002262559
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) SNV
Germline		 Chr17:75758091 Pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA117659 rs_111033608

5 SubmittersRCV000005985
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) SNV
Germline		 Chr17:75763032 Conflicting classifications of pathogenicity Deficiency of galactokinase
not specified
GALK1-related disorder		 Criteria Provided
Conflicting Classifications
 CA117661 rs_80084721

8 SubmittersRCV000005987RCV001824561RCV004754248
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) SNV
Germline		 Chr17:75758530 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of galactokinase		 Criteria Provided
Conflicting Classifications
 CA246538 rs_759284637

5 SubmittersRCV000179261RCV000670855
NM_000154.2(GALK1):c.165+6G>A SNV
Germline		 Chr17:75764966 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA8771123 rs_779996721

2 SubmittersRCV000373236
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) SNV
Germline		 Chr17:75758273 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA8770754 rs_372653001

3 SubmittersRCV000310163
NM_000154.2(GALK1):c.787C>T (p.Leu263=) SNV
Germline		 Chr17:75762710 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA10650155 rs_886053420

2 SubmittersRCV000273795
NM_000154.2(GALK1):c.786G>A (p.Glu262=) SNV
Germline		 Chr17:75762711 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA8770834 rs_756263074

2 SubmittersRCV000331304
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) SNV
Germline		 Chr17:75762751 Conflicting classifications of pathogenicity Deficiency of galactokinase
GALK1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8770841 rs_149825190

5 SubmittersRCV000374236RCV003910242
NM_000154.2(GALK1):c.944+1G>T SNV
Germline		 Chr17:75758448 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA8770784 rs_113464656

2 SubmittersRCV000670419
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) SNV
Germline		 Chr17:75758272 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA8770753 rs_754967473

4 SubmittersRCV000669015
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) SNV
Unknown		 Chr17:75758300 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401099019 rs_1026685248

2 SubmittersRCV000673382
NM_000154.2(GALK1):c.612-1G>A SNV
Germline		 Chr17:75762886 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401103990 rs_1555748556

2 SubmittersRCV000670947
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) SNV
Unknown		 Chr17:75765058 Likely pathogenic Deficiency of galactokinase No Assertion Criteria Provided
 CA401109885 rs_1555748940

1 SubmittersRCV000671410
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) SNV
Unknown		 Chr17:75765136 Likely pathogenic Deficiency of galactokinase No Assertion Criteria Provided
 CA401110681 rs_1311294794

1 SubmittersRCV000672148
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) SNV
Germline		 Chr17:75758286 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA8770760 rs_371517491

6 SubmittersRCV000666699
NM_000154.2(GALK1):c.841G>A (p.Val281Met) SNV
Unknown		 Chr17:75758552 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA8770810 rs_753571180

2 SubmittersRCV000673596
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) SNV
Unknown		 Chr17:75765007 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401109400 rs_1555748926

2 SubmittersRCV000671906
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) SNV
Germline		 Chr17:75763105 Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401104574 rs_1363497653

4 SubmittersRCV000669565
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) SNV
Germline		 Chr17:75758281 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of galactokinase
GALK1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8770756 rs_375690568

7 SubmittersRCV000734178RCV001232085RCV004754550
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) SNV
Germline		 Chr17:75762731 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA8770838 rs_376790302

8 SubmittersRCV000800933
NM_000154.2(GALK1):c.864G>C (p.Thr288=) SNV
Germline		 Chr17:75758529 Conflicting classifications of pathogenicity Deficiency of galactokinase
GALK1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8770804 rs_201247556

4 SubmittersRCV000873527RCV003955706
NM_000154.2(GALK1):c.747G>A (p.Ala249=) SNV
Germline		 Chr17:75762750 Conflicting classifications of pathogenicity Deficiency of galactokinase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8770840 rs_140053358

4 SubmittersRCV000945913RCV004808979
NM_000154.2(GALK1):c.447G>A (p.Thr149=) SNV
Germline		 Chr17:75763348 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA8770947 rs_765744088

3 SubmittersRCV000945326
NM_000154.2(GALK1):c.66G>A (p.Glu22=) SNV
Germline		 Chr17:75765071 Conflicting classifications of pathogenicity Deficiency of galactokinase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8771149 rs_367558510

4 SubmittersRCV000945684RCV002066234
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) SNV
Germline		 Chr17:75763385 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA401105447 rs_915070690

2 SubmittersRCV000990062
NM_000154.2(GALK1):c.-22T>C SNV
Germline		 Chr17:75765158 Conflicting classifications of pathogenicity Deficiency of galactokinase
Condition: not provided
GALK1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8771158 rs_545362817

6 SubmittersRCV000990063RCV002225778RCV003906124
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) SNV
Germline		 Chr17:75763954 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401106643 rs_2061599016

2 SubmittersRCV001070440
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) SNV
Germline		 Chr17:75758083 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA8770695 rs_373041566

2 SubmittersRCV001128520
NM_000154.2(GALK1):c.396A>G (p.Ser132=) SNV
Germline		 Chr17:75763399 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA8770960 rs_766401384

2 SubmittersRCV001126559
NM_000154.2(GALK1):c.611+1G>T SNV
Germline		 Chr17:75763013 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA294089013 rs_982043960

3 SubmittersRCV001215181
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter) SNV
Unknown		 Chr17:75762713 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401102662 rs_2061592335

1 SubmittersRCV001263817
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter) SNV
Unknown		 Chr17:75762722 Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401102753 rs_1599335132

2 SubmittersRCV001263818
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter) SNV
Unknown		 Chr17:75763146 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401104809 rs_575077063

1 SubmittersRCV001263819
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter) SNV
Unknown		 Chr17:75763935 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401106436 rs_2061598873

1 SubmittersRCV001263820
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter) SNV
Unknown		 Chr17:75764002 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401107101 rs_761638957

1 SubmittersRCV001263986
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter) SNV
Germline		 Chr17:75763115 Pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA8770915 rs_775843885

2 SubmittersRCV001381964
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter) SNV
Germline		 Chr17:75765070 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401110044 rs_2143608501

1 SubmittersRCV001390010
NM_000154.2(GALK1):c.321C>T (p.Ala107=) SNV
Germline		 Chr17:75763931 Conflicting classifications of pathogenicity Deficiency of galactokinase Criteria Provided
Conflicting Classifications
 CA8770997 rs_771880802

2 SubmittersRCV001563760
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter) SNV
Germline		 Chr17:75763335 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401105041 rs_2143603585

1 SubmittersRCV001580707
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg) SNV
Germline		 Chr17:75765031 Conflicting classifications of pathogenicity not specified
Deficiency of galactokinase		 Criteria Provided
Conflicting Classifications
 CA401109676 rs_1214866139

3 SubmittersRCV001806816RCV002541388
NM_000154.2(GALK1):c.793+1G>T SNV
Germline		 Chr17:75762703 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA8770832 rs_767790909

2 SubmittersRCV001995252
NM_000154.2(GALK1):c.166-1G>C SNV
Germline		 Chr17:75764087 Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA8771033 rs_142772020

2 SubmittersRCV001980343
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter) SNV
Germline		 Chr17:75763987 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401106953 rs_2143605190

2 SubmittersRCV002037728
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter) SNV
Germline		 Chr17:75763111 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401104605 rs_767799179

3 SubmittersRCV001959046
NM_000154.2(GALK1):c.1107+1G>A SNV
Germline		 Chr17:75758209 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401098245 rs_2143585254

1 SubmittersRCV001886221
NM_000154.2(GALK1):c.520G>T (p.Glu174Ter) SNV
Unknown		 Chr17:75763105 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401104570 rs_1363497653

1 SubmittersRCV002310051
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter) SNV
Germline		 Chr17:75763966 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401106758 rs_2061599170

2 SubmittersRCV002306959
NM_000154.2(GALK1):c.331A>T (p.Lys111Ter) SNV
Unknown		 Chr17:75763921 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401106316 rs_773991014

1 SubmittersRCV002310531
NM_000154.2(GALK1):c.205A>T (p.Lys69Ter) SNV
Unknown		 Chr17:75764047 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401107497 rs_1599336146

1 SubmittersRCV002308387
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter) SNV
Germline		 Chr17:75762789 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA294088947 rs_980603321

2 SubmittersRCV003087871
NM_000154.2(GALK1):c.793+2T>G SNV
Germline		 Chr17:75762702 Pathogenic/Likely pathogenic Deficiency of galactokinase
GALK1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401102571 rs_759699355

3 SubmittersRCV002572257RCV004754883
NM_000154.2(GALK1):c.475+1G>A SNV
Germline		 Chr17:75763319 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401104924 rs_2545903700

1 SubmittersRCV002912944
NM_000154.2(GALK1):c.793+2T>C SNV
Germline		 Chr17:75762702 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA8770831 rs_759699355

1 SubmittersRCV002909178
NM_000154.2(GALK1):c.476-2A>G SNV
Germline		 Chr17:75763151 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA8770928 rs_770871380

1 SubmittersRCV003025167
NM_000154.2(GALK1):c.355+1G>A SNV
Germline		 Chr17:75763896 Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401106098 rs_2061598689

2 SubmittersRCV003461622
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro) SNV
Germline		 Chr17:75758085 Conflicting classifications of pathogenicity Deficiency of galactokinase
not specified		 Criteria Provided
Conflicting Classifications
 CA401097714 rs_1184406839

2 SubmittersRCV003461624RCV005407162
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter) SNV
Unknown		 Chr17:75763045 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401104245 rs_2545903458

1 SubmittersRCV003461625
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter) SNV
Germline		 Chr17:75758492 Pathogenic/Likely pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts
 CA401099948 rs_1224987754

2 SubmittersRCV003461627
NM_000154.2(GALK1):c.868C>T (p.Gln290Ter) SNV
Germline		 Chr17:75758525 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401100183 rs_2545900206

1 SubmittersRCV003505847
NM_000154.2(GALK1):c.612-1G>T SNV
Germline		 Chr17:75762886 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401103985 rs_1555748556

1 SubmittersRCV003506160
NM_000154.2(GALK1):c.1A>G (p.Met1Val) SNV
Germline		 Chr17:75765136 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401110680 rs_1311294794

1 SubmittersRCV003506269
NM_000154.2(GALK1):c.416T>C (p.Leu139Pro) SNV
Germline		 Chr17:75763379 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA8770956 rs_769550271

1 SubmittersRCV003506588
NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter) SNV
Germline		 Chr17:75758363 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401099454 rs_200095299

1 SubmittersRCV003613901
NM_000154.2(GALK1):c.1A>T (p.Met1Leu) SNV
Germline		 Chr17:75765136 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401110682 rs_1311294794

1 SubmittersRCV003614565
NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter) SNV
Germline		 Chr17:75758212 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA401098266 rs_2545899422

1 SubmittersRCV003614817
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter) SNV
Germline		 Chr17:75765039 Pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 CA8771143 rs_756290185

2 SubmittersRCV003879325
NM_000154.2(GALK1):c.609C>A (p.Cys203Ter) SNV
Unknown		 Chr17:75763016 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter
 rs_2545903420

1 SubmittersRCV004576640
NM_000154.2(GALK1):c.1067T>C (p.Leu356Pro) SNV
Germline		 Chr17:75758250 Pathogenic Deficiency of galactokinase Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004699783
NM_000154.2(GALK1):c.3G>T (p.Met1Ile) SNV
Germline		 Chr17:75765134 Likely pathogenic Deficiency of galactokinase Criteria Provided
Single Submitter

1 SubmittersRCV005026122
NM_000154.2(GALK1):c.1137C>G (p.Tyr379Ter) SNV
Germline		 Chr17:75758098 Likely pathogenic Deficiency of galactokinase No Assertion Criteria Provided

1 SubmittersRCV005613817