Total 93 pathogenic variants reported for Galactosemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000155.4(GALT):c.425T>A (p.Met142Lys) SNV
Germline
Chr9:34647879 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
GALT-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA252843 rs_111033695

13 SubmittersRCV000003793RCV000185916RCV001826409RCV003398436

NM_000155.4(GALT):c.997C>T (p.Arg333Trp) SNV
Germline
Chr9:34649502 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA252844 rs_111033800

14 SubmittersRCV000003794RCV000723400RCV001826410

NM_000155.4(GALT):c.563A>G (p.Gln188Arg) SNV
Germline
Chr9:34648170 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Inborn genetic diseases
GALT-related disorder
Colorectal cancer
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Sarcoma
Melanoma
Thymoma
Acute myeloid leukemia
Criteria Provided
Conflicting Classifications
CA312566 rs_75391579

43 SubmittersRCV000003798RCV000185917RCV000825563RCV004018548RCV003415643RCV005887263RCV005887261RCV005887262RCV005887259RCV005887264RCV005887266RCV005887265RCV005887260

NM_000155.4(GALT):c.221T>C (p.Leu74Pro) SNV
Germline
Chr9:34647227 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Conflicting Classifications
CA252846 rs_111033663

8 SubmittersRCV000003799RCV000723459RCV001826411

NM_000155.4(GALT):c.512T>C (p.Phe171Ser) SNV
Germline
Chr9:34648119 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA340106 rs_111033715

14 SubmittersRCV000003800RCV000723392RCV001831509RCV005562300

NM_000155.4(GALT):c.404C>T (p.Ser135Leu) SNV
Germline
Chr9:34647858 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
See cases
Inborn genetic diseases
GALT-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA312565 rs_111033690

26 SubmittersRCV000003802RCV000185915RCV001826412RCV002251865RCV002512724RCV004752682

NM_000155.4(GALT):c.855G>T (p.Lys285Asn) SNV
Germline
Chr9:34649032 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA340107 rs_111033773

25 SubmittersRCV000003805RCV000224446RCV001831510RCV005572266

NM_000155.4(GALT):c.607G>A (p.Glu203Lys) SNV
Germline
Chr9:34648376 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Conflicting Classifications
CA340108 rs_111033736

8 SubmittersRCV000003806RCV000727661RCV001271243

NM_000155.4(GALT):c.997C>G (p.Arg333Gly) SNV
Germline
Chr9:34649502 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA340109 rs_111033800

5 SubmittersRCV000003807RCV001831511

NM_001008216.2(GALE):c.280G>A (p.Val94Met) SNV
Germline
Chr1:23798188 Pathogenic/Likely pathogenic Galactosemia III, severe
UDPglucose-4-epimerase deficiency
Condition: not provided
Inborn genetic diseases
UDPglucose-4-epimerase deficiency
Thrombocytopenia 13, syndromic
Criteria Provided
Multiple Submitters
No Conflicts
CA116434 rs_121908047

10 SubmittersRCV000003867RCV000020292RCV000727367RCV002512728RCV005003325

NM_000155.4(GALT):c.91C>A (p.His31Asn) SNV
Germline
Chr9:34647097 Likely pathogenic Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Criteria Provided
Multiple Submitters
No Conflicts
CA259320 rs_111033643

3 SubmittersRCV001826488RCV003502508

NM_000155.4(GALT):c.199C>T (p.Arg67Cys) SNV
Germline
Chr9:34647205 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259339 rs_111033658

7 SubmittersRCV000022067RCV000723719RCV001831595

NM_000155.4(GALT):c.253-2A>G SNV
Germline
Chr9:34647490 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA312562 rs_111033661

10 SubmittersRCV000022073RCV000185912RCV001826489RCV004018660

NM_000155.4(GALT):c.292G>A (p.Asp98Asn) SNV
Germline
Chr9:34647531 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259357 rs_111033670

13 SubmittersRCV000022079RCV000723399RCV001826490

NM_000155.4(GALT):c.329-2A>C SNV
Germline
Chr9:34647655 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Criteria Provided
Multiple Submitters
No Conflicts
CA259363 rs_111033667

11 SubmittersRCV000022085RCV000505778RCV001826491RCV005888638RCV005888637

NM_000155.4(GALT):c.377+1G>T SNV
Germline
Chr9:34647706 Pathogenic Galactosemia
Condition: not provided
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Ovarian serous cystadenocarcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA259375 rs_111033681

4 SubmittersRCV001250222RCV003159557RCV003502509RCV005888639

NM_000155.4(GALT):c.378-27G>C SNV
Germline
Chr9:34647805 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Galactosemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA342592 rs_41274865

11 SubmittersRCV000022097RCV000247789RCV001276265RCV001650840

NM_000155.4(GALT):c.413C>T (p.Thr138Met) SNV
Germline
Chr9:34647867 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259387 rs_111033686

9 SubmittersRCV000022107RCV001507744RCV001831597

NM_000155.4(GALT):c.443G>A (p.Arg148Gln) SNV
Germline
Chr9:34647897 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259394 rs_111033694

12 SubmittersRCV000022114RCV000723398RCV001826492

NM_000155.4(GALT):c.452T>C (p.Val151Ala) SNV
Germline
Chr9:34647906 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259396 rs_111033701

5 SubmittersRCV000022116RCV000505985RCV001826493

NM_000155.4(GALT):c.502G>T (p.Val168Leu) SNV
Germline
Chr9:34647956 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259410 rs_367543258

6 SubmittersRCV000022125RCV001826494

NM_000155.4(GALT):c.507+62G>A SNV
Germline
Chr9:34648023 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA342593 rs_2277202

7 SubmittersRCV000022128RCV001276267RCV001711134

NM_000155.4(GALT):c.508-24G>A SNV
Germline
Chr9:34648091 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Galactosemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA342594 rs_41274867

14 SubmittersRCV000022131RCV000252524RCV001276268RCV001610295

NM_000155.4(GALT):c.524G>A (p.Gly175Asp) SNV
Germline
Chr9:34648131 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259424 rs_111033718

4 SubmittersRCV000022139RCV000507314RCV001276270

NM_000155.4(GALT):c.552C>A (p.His184Gln) SNV
Germline
Chr9:34648159 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259433 rs_111033717

7 SubmittersRCV000022146RCV000493954RCV001835632

NM_000155.4(GALT):c.554C>T (p.Pro185Leu) SNV
Germline
Chr9:34648161 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Galactosemia
Criteria Provided
Conflicting Classifications
CA259436 rs_111033722

5 SubmittersRCV000022149RCV001844015RCV001826495

NM_000155.4(GALT):c.564+1G>A SNV
Germline
Chr9:34648172 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259439 rs_111033723

5 SubmittersRCV000022151RCV000729821RCV001271240

NM_000155.4(GALT):c.584T>C (p.Leu195Pro) SNV
Germline
Chr9:34648353 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
GALT-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA342595 rs_111033728

16 SubmittersRCV000022158RCV000224416RCV001826496RCV004752718

NM_000155.4(GALT):c.601C>T (p.Arg201Cys) SNV
Germline
Chr9:34648370 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259450 rs_111033739

8 SubmittersRCV000022162RCV000506881RCV000723434RCV001271242

NM_000155.4(GALT):c.602G>A (p.Arg201His) SNV
Germline
Chr9:34648371 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259451 rs_111033735

9 SubmittersRCV000022163RCV000723397RCV001831598

NM_000155.4(GALT):c.610C>T (p.Arg204Ter) SNV
Germline
Chr9:34648379 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259452 rs_111033737

9 SubmittersRCV000022164RCV000723395RCV001831599

NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) SNV
Germline
Chr9:34648395 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA312567 rs_111033744

12 SubmittersRCV000022167RCV000185918RCV001831600

NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) SNV
Germline
Chr9:34648395 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259457 rs_111033744

4 SubmittersRCV000022168RCV001826497

NM_000155.4(GALT):c.691C>T (p.Arg231Cys) SNV
Germline
Chr9:34648765 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259477 rs_111033749

10 SubmittersRCV000022184RCV000185919RCV001831602

NM_000155.4(GALT):c.692G>A (p.Arg231His) SNV
Germline
Chr9:34648766 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
GALT-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA259478 rs_111033754

7 SubmittersRCV000022185RCV001826498RCV002254268RCV004752719

NM_000155.4(GALT):c.747G>A (p.Trp249Ter) SNV
Germline
Chr9:34648821 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA259485 rs_111033758

4 SubmittersRCV000022190RCV001271244RCV004791235

NM_000155.4(GALT):c.820+13A>G SNV
Germline
Chr9:34648907 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259509 rs_111033768

8 SubmittersRCV000022211RCV000723491RCV001826500

NM_000155.4(GALT):c.947G>A (p.Trp316Ter) SNV
Germline
Chr9:34649452 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA259533 rs_111033790

7 SubmittersRCV000022235RCV001826501RCV006277659

NM_000155.4(GALT):c.958G>A (p.Ala320Thr) SNV
Germline
Chr9:34649463 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Conflicting Classifications
CA259544 rs_111033795

6 SubmittersRCV000022243RCV000319347RCV001831603

NM_000155.4(GALT):c.961C>T (p.His321Tyr) SNV
Germline
Chr9:34649466 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
GALT-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA259545 rs_367543266

8 SubmittersRCV000022244RCV000587990RCV001835633RCV004752720

NM_000155.4(GALT):c.974C>T (p.Pro325Leu) SNV
Germline
Chr9:34649479 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259554 rs_111033794

8 SubmittersRCV000022250RCV001091819RCV001826502

NM_000155.4(GALT):c.983G>A (p.Arg328His) SNV
Germline
Chr9:34649488 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259558 rs_111033802

5 SubmittersRCV000022254RCV001271248

NM_000155.4(GALT):c.1014C>G (p.Gly338=) SNV
Germline
Chr9:34649519 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259565 rs_111033811

6 SubmittersRCV000022262RCV000790690RCV001835634

NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) SNV
Germline
Chr9:34649523 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
not specified
Criteria Provided
Conflicting Classifications
CA259567 rs_111033806

4 SubmittersRCV000022263RCV001826503RCV001582494

NM_000155.4(GALT):c.203A>C (p.His68Pro) SNV
Germline
Chr9:34647209 Conflicting classifications of pathogenicity not specified
Condition: not provided
Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Criteria Provided
Conflicting Classifications
CA260400 rs_193922247

5 SubmittersRCV000029806RCV000723445RCV001826519RCV001852594

NM_000155.4(GALT):c.394C>T (p.His132Tyr) SNV
Germline
Chr9:34647848 Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259382 rs_111033688

5 SubmittersRCV000022102RCV001831616

NM_000155.4(GALT):c.428C>T (p.Ser143Leu) SNV
Germline
Chr9:34647882 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA259391 rs_111033697

5 SubmittersRCV000022111RCV001831617RCV003480038

NM_000155.4(GALT):c.442C>T (p.Arg148Trp) SNV
Germline
Chr9:34647896 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA259393 rs_111033693

12 SubmittersRCV000022113RCV000414362RCV001826523RCV005562303

NM_000155.4(GALT):c.998G>A (p.Arg333Gln) SNV
Germline
Chr9:34649503 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA259561 rs_111033808

7 SubmittersRCV000022258RCV001549598RCV001831618

NM_000155.4(GALT):c.775C>T (p.Arg259Trp) SNV
Germline
Chr9:34648849 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA274482 rs_786204763

9 SubmittersRCV000169625RCV000723394RCV001831991

NM_000155.4(GALT):c.367C>T (p.Arg123Ter) SNV
Germline
Chr9:34647695 Pathogenic Condition: not provided
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA312563 rs_111033674

6 SubmittersRCV000727565RCV000686241RCV001276263

NM_000155.4(GALT):c.893T>C (p.Met298Thr) SNV
Germline
Chr9:34649070 Conflicting classifications of pathogenicity Condition: not provided
Galactosemia
Criteria Provided
Conflicting Classifications
CA10603762 rs_886042064

3 SubmittersRCV000433820RCV005614396

NM_000155.4(GALT):c.776G>A (p.Arg259Gln) SNV
Germline
Chr9:34648850 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA10603771 rs_886042070

11 SubmittersRCV000319697RCV000723422RCV001828172

NM_000155.4(GALT):c.405G>A (p.Ser135=) SNV
Germline
Chr9:34647859 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
not specified
Criteria Provided
Conflicting Classifications
CA5036120 rs_141232328

5 SubmittersRCV000347809RCV000634558RCV001833305RCV005238818

NM_000155.4(GALT):c.510C>A (p.Ile170=) SNV
Germline
Chr9:34648117 Conflicting classifications of pathogenicity not specified
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5036151 rs_61735984

9 SubmittersRCV000400615RCV000872897RCV001276330RCV001698758

NM_000155.4(GALT):c.688-4C>T SNV
Germline
Chr9:34648758 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
not specified
Criteria Provided
Conflicting Classifications
CA5036201 rs_374014228

4 SubmittersRCV000872163RCV001276332RCV001844154

NM_000155.4(GALT):c.687+9G>C SNV
Germline
Chr9:34648465 Conflicting classifications of pathogenicity not specified
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5036186 rs_117998880

5 SubmittersRCV000588651RCV000871944RCV001276331RCV005639113

NM_000155.4(GALT):c.556C>A (p.His186Asn) SNV
Germline
Chr9:34648163 Likely pathogenic not specified
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA373281673 rs_111033725

3 SubmittersRCV000508125RCV001857269RCV005614417

NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) SNV
Germline
Chr9:34649065 Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Single Submitter
CA373284477 rs_1554709447

2 SubmittersRCV000587954RCV005614424

NM_000155.4(GALT):c.667C>T (p.Arg223Cys) SNV
Germline
Chr9:34648436 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Premature ovarian failure
Galactosemia
GALT-related disorder
Criteria Provided
Conflicting Classifications
CA5036181 rs_111033750

6 SubmittersRCV000634557RCV000733886RCV001270213RCV001835014RCV003892439

NM_000155.4(GALT):c.814C>T (p.Arg272Cys) SNV
Germline
Chr9:34648888 Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
GALT-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA5036218 rs_111033766

6 SubmittersRCV000664855RCV001835067RCV003403535

NM_000155.4(GALT):c.413C>G (p.Thr138Arg) SNV
Germline
Chr9:34647867 Conflicting classifications of pathogenicity not specified
Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Criteria Provided
Conflicting Classifications
CA373280702 rs_111033686

4 SubmittersRCV000781401RCV001276266RCV001856196RCV004792460

NM_000155.4(GALT):c.1128A>T (p.Ala376=) SNV
Germline
Chr9:34650437 Conflicting classifications of pathogenicity not specified
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Conflicting Classifications
CA5036306 rs_781374930

4 SubmittersRCV000780276RCV000941172RCV001276337

NM_000155.4(GALT):c.919T>A (p.Ser307Thr) SNV
Germline
Chr9:34649424 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA5036260 rs_61735983

7 SubmittersRCV000908301RCV001276335RCV003480892RCV005562502RCV006460100

NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) SNV
Germline
Chr9:34649554 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Conflicting Classifications
CA5036276 rs_775317639

3 SubmittersRCV001001297RCV001827154

NM_000155.4(GALT):c.252+1G>A SNV
Germline
Chr9:34647259 Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA5036043 rs_768154316

4 SubmittersRCV001004540RCV001836062RCV004792610

NM_000155.4(GALT):c.550C>T (p.His184Tyr) SNV
Germline
Chr9:34648157 Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA373281640 rs_111033716

3 SubmittersRCV001064137RCV001276271RCV006279343

NM_138801.3(GALM):c.244C>T (p.Arg82Ter) SNV
Germline
Chr2:38675965 Pathogenic Galactosemia 4
Condition: not provided
Criteria Provided
Single Submitter
CA1621443 rs_115413295

2 SubmittersRCV001093636RCV003727844

NM_138801.3(GALM):c.424G>A (p.Gly142Arg) SNV
Germline
Chr2:38681358 Conflicting classifications of pathogenicity Galactosemia 4
Condition: not provided
GALM-related disorder
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1621534 rs_114440198

6 SubmittersRCV001093638RCV001856283RCV003433013RCV004702634RCV006372082

NM_138801.3(GALM):c.932G>A (p.Trp311Ter) SNV
Germline
Chr2:38731890 Pathogenic Galactosemia 4 No Assertion Criteria Provided
CA1621690 rs_767153310

1 SubmittersRCV001093639

NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) SNV
Germline
Chr9:34649560 Conflicting classifications of pathogenicity not specified
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Conflicting Classifications
CA373285344 rs_1821203474

3 SubmittersRCV001201298RCV001360296RCV001828616

NM_000155.4(GALT):c.688-1G>C SNV
Germline
Chr9:34648761 Likely pathogenic Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Criteria Provided
Single Submitter
CA373283273 rs_1821175162

2 SubmittersRCV005614495RCV001204828

NM_000155.4(GALT):c.535G>C (p.Gly179Arg) SNV
Unknown
Chr9:34648142 Likely pathogenic Galactosemia Criteria Provided
Single Submitter
CA373281536 rs_1473851511

1 SubmittersRCV003389286

NM_000155.4(GALT):c.382G>A (p.Val128Ile) SNV
Germline
Chr9:34647836 Pathogenic Condition: not provided
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Multiple Submitters
No Conflicts
CA373280538 rs_2492865820

3 SubmittersRCV003480440RCV003502744RCV005616653

NM_000155.4(GALT):c.253-1G>A SNV
Germline
Chr9:34647491 Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Single Submitter
CA373279043 rs_1587237799

2 SubmittersRCV003989199RCV005618332

NM_000155.4(GALT):c.821-1G>A SNV
Germline
Chr9:34648997 Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
Criteria Provided
Single Submitter
rs_750226076

2 SubmittersRCV004576656RCV005618362

NM_000155.4(GALT):c.719T>G (p.Leu240Ter) SNV
Germline
Chr9:34648793 Likely pathogenic Galactosemia No Assertion Criteria Provided

1 SubmittersRCV005613840

NM_000155.4(GALT):c.370G>T (p.Gly124Ter) SNV
Germline
Chr9:34647698 Likely pathogenic Galactosemia No Assertion Criteria Provided

1 SubmittersRCV005613863

NM_000155.4(GALT):c.83-1G>C SNV
Germline
Chr9:34647088 Likely pathogenic Galactosemia No Assertion Criteria Provided

1 SubmittersRCV005613870

NM_000155.4(GALT):c.707G>T (p.Ser236Ile) SNV
Germline
Chr9:34648781 Likely pathogenic Galactosemia No Assertion Criteria Provided

1 SubmittersRCV005613885

NM_000155.4(GALT):c.507+1G>T SNV
Germline
Chr9:34647962 Likely pathogenic Galactosemia No Assertion Criteria Provided

1 SubmittersRCV005613887

NM_000155.4(GALT):c.118G>T (p.Glu40Ter) SNV
Germline
Chr9:34647124 Likely pathogenic Galactosemia No Assertion Criteria Provided

1 SubmittersRCV005613889