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	12 SubmittersRCV000003793 RCV000185916 RCV001826409 RCV003398436
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	SNV Germline	Chr9:34649502	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA252844	rs_111033800	13 SubmittersRCV000003794 RCV000723400 RCV001826410
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	SNV Germline	Chr9:34649445	Conflicting classifications of pathogenicity; other	GALT POLYMORPHISM (DUARTE, D2) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia GALT-related disorder	Criteria Provided Conflicting Classifications	CA116380	rs_2070074	21 SubmittersRCV000003797 RCV000022233 RCV000078243 RCV000309989 RCV003891427
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	SNV Germline	Chr9:34648170	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia GALT-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA312566	rs_75391579	38 SubmittersRCV000003798 RCV000185917 RCV000825563 RCV003415643 RCV004018548
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	SNV Germline	Chr9:34647227	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA252846	rs_111033663	7 SubmittersRCV000003799 RCV000723459 RCV001826411
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	Criteria Provided Multiple Submitters No Conflicts	CA340106	rs_111033715	12 SubmittersRCV000003800 RCV000723392 RCV001831509
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	25 SubmittersRCV000003802 RCV000185915 RCV001826412 RCV002251865 RCV002512724 RCV004752682
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	Criteria Provided Multiple Submitters No Conflicts	CA340107	rs_111033773	22 SubmittersRCV000003805 RCV000224446 RCV001831510
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	7 SubmittersRCV000003806 RCV000727661 RCV001271243
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 SubmittersRCV000003807 RCV001831511
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	Criteria Provided Multiple Submitters No Conflicts	CA116434	rs_121908047	10 SubmittersRCV000003867 RCV000020292 RCV000727367 RCV002512728
NM_000155.4(GALT):c.91C>A (p.His31Asn)	SNV Germline	Chr9:34647097	Conflicting classifications of pathogenicity	Condition: not provided Galactosemia Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Criteria Provided Conflicting Classifications	CA259320	rs_111033643	3 SubmittersRCV000585998 RCV001826488 RCV003502508
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	6 SubmittersRCV000022067 RCV000723719 RCV001831595
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	9 SubmittersRCV000022073 RCV000185912 RCV001826489 RCV004018660
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	10 SubmittersRCV000022079 RCV000723399 RCV001826490
NM_000155.4(GALT):c.329-2A>C	SNV Germline	Chr9:34647655	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259363	rs_111033667	7 SubmittersRCV000022085 RCV000505778 RCV001826491
NM_000155.4(GALT):c.377+1G>T	SNV Germline	Chr9:34647706	Pathogenic	Galactosemia Condition: not provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA259375	rs_111033681	3 SubmittersRCV001250222 RCV003159557 RCV003502509
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	8 SubmittersRCV000022107 RCV001507744 RCV001831597
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	SNV Germline	Chr9:34647897	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259394	rs_111033694	10 SubmittersRCV000022114 RCV000723398 RCV001826492
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	SNV Germline	Chr9:34647906	Conflicting classifications of pathogenicity	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified Galactosemia	Criteria Provided Conflicting Classifications	CA259396	rs_111033701	4 SubmittersRCV000022116 RCV000505985 RCV001826493
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	SNV Germline	Chr9:34647956	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259410	rs_367543258	5 SubmittersRCV000022125 RCV001826494
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 SubmittersRCV000022139 RCV000507314 RCV001276270
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 SubmittersRCV000022146 RCV000493954 RCV001835632
NM_000155.4(GALT):c.564+1G>A	SNV Germline	Chr9:34648172	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259439	rs_111033723	5 SubmittersRCV000022151 RCV000729821 RCV001271240
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 SubmittersRCV000022158 RCV000224416 RCV001826496 RCV004752718
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	6 SubmittersRCV000022162 RCV000506881 RCV000723434 RCV001271242
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 SubmittersRCV000022163 RCV000723397 RCV001831598
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	SNV Germline	Chr9:34648379	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259452	rs_111033737	7 SubmittersRCV000022164 RCV000723395 RCV001831599
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 SubmittersRCV000022167 RCV000185918 RCV001831600
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 SubmittersRCV000022168 RCV001826497
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	SNV Germline	Chr9:34648765	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259477	rs_111033749	7 SubmittersRCV000022184 RCV000185919 RCV001831602
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 SubmittersRCV000022185 RCV001826498 RCV002254268 RCV004752719
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 SubmittersRCV000022190 RCV001271244 RCV004791235
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	7 SubmittersRCV000022211 RCV000723491 RCV001826500
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	SNV Germline	Chr9:34649452	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259533	rs_111033790	5 SubmittersRCV000022235 RCV001826501
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	SNV Germline	Chr9:34649463	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259544	rs_111033795	6 SubmittersRCV000022243 RCV000319347 RCV001831603
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 SubmittersRCV000022244 RCV000587990 RCV001835633 RCV004752720
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 SubmittersRCV000022250 RCV001091819 RCV001826502
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	4 SubmittersRCV000022254 RCV001271248
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 SubmittersRCV000022262 RCV000790690 RCV001835634
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)	SNV Germline	Chr9:34649523	Conflicting classifications of pathogenicity	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not specified Galactosemia	Criteria Provided Conflicting Classifications	CA259567	rs_111033806	4 SubmittersRCV000022263 RCV001582494 RCV001826503
NM_000155.4(GALT):c.203A>C (p.His68Pro)	SNV Germline	Chr9:34647209	Conflicting classifications of pathogenicity	not specified Condition: not provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Galactosemia	Criteria Provided Conflicting Classifications	CA260400	rs_193922247	5 SubmittersRCV000029806 RCV000723445 RCV001852594 RCV001826519
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 SubmittersRCV000022102 RCV001831616
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	4 SubmittersRCV000022111 RCV001831617 RCV003480038
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	Criteria Provided Multiple Submitters No Conflicts	CA259393	rs_111033693	10 SubmittersRCV000022113 RCV000414362 RCV001826523
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	SNV Germline	Chr9:34649503	Pathogenic/Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts	CA259561	rs_111033808	6 SubmittersRCV000022258 RCV001549598 RCV001831618
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	8 SubmittersRCV000169625 RCV000723394 RCV001831991
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)	SNV Germline	Chr9:34647695	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia	Criteria Provided Multiple Submitters No Conflicts		rs_111033674	5 SubmittersRCV000686241 RCV000727565 RCV001276263
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	9 SubmittersRCV000319697 RCV000723422 RCV001828172
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	Criteria Provided Conflicting Classifications	CA5036120	rs_141232328	4 SubmittersRCV000347809 RCV000634558 RCV001833305
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	8 SubmittersRCV000400615 RCV000872897 RCV001276330 RCV001698758
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 SubmittersRCV000872163 RCV001276332 RCV001844154
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	Criteria Provided Conflicting Classifications	CA5036186	rs_117998880	4 SubmittersRCV000588651 RCV000871944 RCV001276331
NM_000155.4(GALT):c.377+7A>G	SNV Germline	Chr9:34647712	Conflicting classifications of pathogenicity	Condition: not provided Galactosemia Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Criteria Provided Conflicting Classifications	CA5036099	rs_376026879	3 SubmittersRCV000588277 RCV001276264 RCV002065130
NM_000155.4(GALT):c.328+7T>C	SNV Germline	Chr9:34647574	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Galactosemia	Criteria Provided Conflicting Classifications	CA5036084	rs_774350978	3 SubmittersRCV000589766 RCV001082085 RCV001276328
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	5 SubmittersRCV000634557 RCV000733886 RCV001270213 RCV001835014 RCV003892439
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		rs_111033766	6 SubmittersRCV000664855 RCV001835067 RCV003403535
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		rs_111033686	4 SubmittersRCV000781401 RCV001276266 RCV001856196 RCV004792460
NM_000155.4(GALT):c.1128A>T (p.Ala376=)	SNV Germline	Chr9:34650437	Conflicting classifications of pathogenicity	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Galactosemia not specified	Criteria Provided Conflicting Classifications		rs_781374930	4 SubmittersRCV000941172 RCV001276337 RCV000780276
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	Criteria Provided Conflicting Classifications		rs_61735983	4 SubmittersRCV000908301 RCV001276335 RCV003480892
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		rs_775317639	3 SubmittersRCV001001297 RCV001827154
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		rs_768154316	4 SubmittersRCV001004540 RCV001836062 RCV004792610
NM_138801.3(GALM):c.244C>T (p.Arg82Ter)	SNV Germline	Chr2:38675965	Pathogenic	Galactosemia 4 Condition: not provided	Criteria Provided Single Submitter		rs_115413295	2 SubmittersRCV001093636 RCV003727844
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	Criteria Provided Conflicting Classifications		rs_114440198	5 SubmittersRCV001093638 RCV001856283 RCV003433013 RCV004702634
NM_138801.3(GALM):c.932G>A (p.Trp311Ter)	SNV Germline	Chr2:38731890	Pathogenic	Galactosemia 4	No Assertion Criteria Provided		rs_767153310	1 SubmittersRCV001093639
NM_000155.4(GALT):c.904+7C>A	SNV Germline	Chr9:34649088	Conflicting classifications of pathogenicity	not specified Galactosemia Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Criteria Provided Conflicting Classifications		rs_1564102104	3 SubmittersRCV001194276 RCV001828603 RCV002069254
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		rs_1821203474	3 SubmittersRCV001201298 RCV001360296 RCV001828616
NM_000155.4(GALT):c.535G>C (p.Gly179Arg)	SNV Unknown	Chr9:34648142	Likely pathogenic	Galactosemia	Criteria Provided Single Submitter			1 SubmittersRCV003389286

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

12 SubmittersRCV000003793 RCV000185916 RCV001826409 RCV003398436

NM_000155.4(GALT):c.997C>T (p.Arg333Trp)

SNV
Germline

Chr9:34649502

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA252844

rs_111033800

13 SubmittersRCV000003794 RCV000723400 RCV001826410

NM_000155.4(GALT):c.940A>G (p.Asn314Asp)

SNV
Germline

Chr9:34649445

Conflicting classifications of pathogenicity; other

GALT POLYMORPHISM (DUARTE, D2)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
GALT-related disorder

Criteria Provided
Conflicting Classifications

CA116380

rs_2070074

21 SubmittersRCV000003797 RCV000022233 RCV000078243 RCV000309989 RCV003891427

NM_000155.4(GALT):c.563A>G (p.Gln188Arg)

SNV
Germline

Chr9:34648170

Pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
GALT-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA312566

rs_75391579

38 SubmittersRCV000003798 RCV000185917 RCV000825563 RCV003415643 RCV004018548

NM_000155.4(GALT):c.221T>C (p.Leu74Pro)

SNV
Germline

Chr9:34647227

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA252846

rs_111033663

7 SubmittersRCV000003799 RCV000723459 RCV001826411

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340106

rs_111033715

12 SubmittersRCV000003800 RCV000723392 RCV001831509

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

25 SubmittersRCV000003802 RCV000185915 RCV001826412 RCV002251865 RCV002512724 RCV004752682

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340107

rs_111033773

22 SubmittersRCV000003805 RCV000224446 RCV001831510

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

7 SubmittersRCV000003806 RCV000727661 RCV001271243

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 SubmittersRCV000003807 RCV001831511

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116434

rs_121908047

10 SubmittersRCV000003867 RCV000020292 RCV000727367 RCV002512728

NM_000155.4(GALT):c.91C>A (p.His31Asn)

SNV
Germline

Chr9:34647097

Conflicting classifications of pathogenicity

Condition: not provided
Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Criteria Provided
Conflicting Classifications

CA259320

rs_111033643

3 SubmittersRCV000585998 RCV001826488 RCV003502508

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

6 SubmittersRCV000022067 RCV000723719 RCV001831595

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

9 SubmittersRCV000022073 RCV000185912 RCV001826489 RCV004018660

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

10 SubmittersRCV000022079 RCV000723399 RCV001826490

NM_000155.4(GALT):c.329-2A>C

SNV
Germline

Chr9:34647655

Pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259363

rs_111033667

7 SubmittersRCV000022085 RCV000505778 RCV001826491

NM_000155.4(GALT):c.377+1G>T

SNV
Germline

Chr9:34647706

Pathogenic

Galactosemia
Condition: not provided
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA259375

rs_111033681

3 SubmittersRCV001250222 RCV003159557 RCV003502509

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

8 SubmittersRCV000022107 RCV001507744 RCV001831597

NM_000155.4(GALT):c.443G>A (p.Arg148Gln)

SNV
Germline

Chr9:34647897

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259394

rs_111033694

10 SubmittersRCV000022114 RCV000723398 RCV001826492

NM_000155.4(GALT):c.452T>C (p.Val151Ala)

SNV
Germline

Chr9:34647906

Conflicting classifications of pathogenicity

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Galactosemia

Criteria Provided
Conflicting Classifications

CA259396

rs_111033701

4 SubmittersRCV000022116 RCV000505985 RCV001826493

NM_000155.4(GALT):c.502G>T (p.Val168Leu)

SNV
Germline

Chr9:34647956

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259410

rs_367543258

5 SubmittersRCV000022125 RCV001826494

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 SubmittersRCV000022139 RCV000507314 RCV001276270

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 SubmittersRCV000022146 RCV000493954 RCV001835632

NM_000155.4(GALT):c.564+1G>A

SNV
Germline

Chr9:34648172

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259439

rs_111033723

5 SubmittersRCV000022151 RCV000729821 RCV001271240

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 SubmittersRCV000022158 RCV000224416 RCV001826496 RCV004752718

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

6 SubmittersRCV000022162 RCV000506881 RCV000723434 RCV001271242

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 SubmittersRCV000022163 RCV000723397 RCV001831598

NM_000155.4(GALT):c.610C>T (p.Arg204Ter)

SNV
Germline

Chr9:34648379

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259452

rs_111033737

7 SubmittersRCV000022164 RCV000723395 RCV001831599

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 SubmittersRCV000022167 RCV000185918 RCV001831600

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 SubmittersRCV000022168 RCV001826497

NM_000155.4(GALT):c.691C>T (p.Arg231Cys)

SNV
Germline

Chr9:34648765

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259477

rs_111033749

7 SubmittersRCV000022184 RCV000185919 RCV001831602

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 SubmittersRCV000022185 RCV001826498 RCV002254268 RCV004752719

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 SubmittersRCV000022190 RCV001271244 RCV004791235

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

7 SubmittersRCV000022211 RCV000723491 RCV001826500

NM_000155.4(GALT):c.947G>A (p.Trp316Ter)

SNV
Germline

Chr9:34649452

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259533

rs_111033790

5 SubmittersRCV000022235 RCV001826501

NM_000155.4(GALT):c.958G>A (p.Ala320Thr)

SNV
Germline

Chr9:34649463

Pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259544

rs_111033795

6 SubmittersRCV000022243 RCV000319347 RCV001831603

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 SubmittersRCV000022244 RCV000587990 RCV001835633 RCV004752720

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 SubmittersRCV000022250 RCV001091819 RCV001826502

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

4 SubmittersRCV000022254 RCV001271248

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 SubmittersRCV000022262 RCV000790690 RCV001835634

NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)

SNV
Germline

Chr9:34649523

Conflicting classifications of pathogenicity

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
not specified
Galactosemia

Criteria Provided
Conflicting Classifications

CA259567

rs_111033806

4 SubmittersRCV000022263 RCV001582494 RCV001826503

NM_000155.4(GALT):c.203A>C (p.His68Pro)

SNV
Germline

Chr9:34647209

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia

Criteria Provided
Conflicting Classifications

CA260400

rs_193922247

5 SubmittersRCV000029806 RCV000723445 RCV001852594 RCV001826519

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 SubmittersRCV000022102 RCV001831616

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

4 SubmittersRCV000022111 RCV001831617 RCV003480038

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259393

rs_111033693

10 SubmittersRCV000022113 RCV000414362 RCV001826523

NM_000155.4(GALT):c.998G>A (p.Arg333Gln)

SNV
Germline

Chr9:34649503

Pathogenic/Likely pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

CA259561

rs_111033808

6 SubmittersRCV000022258 RCV001549598 RCV001831618

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

8 SubmittersRCV000169625 RCV000723394 RCV001831991

NM_000155.4(GALT):c.367C>T (p.Arg123Ter)

SNV
Germline

Chr9:34647695

Pathogenic

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_111033674

5 SubmittersRCV000686241 RCV000727565 RCV001276263

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

9 SubmittersRCV000319697 RCV000723422 RCV001828172

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

Criteria Provided
Conflicting Classifications

CA5036120

rs_141232328

4 SubmittersRCV000347809 RCV000634558 RCV001833305

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

8 SubmittersRCV000400615 RCV000872897 RCV001276330 RCV001698758

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 SubmittersRCV000872163 RCV001276332 RCV001844154

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

Criteria Provided
Conflicting Classifications

CA5036186

rs_117998880

4 SubmittersRCV000588651 RCV000871944 RCV001276331

NM_000155.4(GALT):c.377+7A>G

SNV
Germline

Chr9:34647712

Conflicting classifications of pathogenicity

Condition: not provided
Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Criteria Provided
Conflicting Classifications

CA5036099

rs_376026879

3 SubmittersRCV000588277 RCV001276264 RCV002065130

NM_000155.4(GALT):c.328+7T>C

SNV
Germline

Chr9:34647574

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia

Criteria Provided
Conflicting Classifications

CA5036084

rs_774350978

3 SubmittersRCV000589766 RCV001082085 RCV001276328

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

5 SubmittersRCV000634557 RCV000733886 RCV001270213 RCV001835014 RCV003892439

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

rs_111033766

6 SubmittersRCV000664855 RCV001835067 RCV003403535

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

rs_111033686

4 SubmittersRCV000781401 RCV001276266 RCV001856196 RCV004792460

NM_000155.4(GALT):c.1128A>T (p.Ala376=)

SNV
Germline

Chr9:34650437

Conflicting classifications of pathogenicity

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
not specified

Criteria Provided
Conflicting Classifications

rs_781374930

4 SubmittersRCV000941172 RCV001276337 RCV000780276

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

Criteria Provided
Conflicting Classifications

rs_61735983

4 SubmittersRCV000908301 RCV001276335 RCV003480892

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

rs_775317639

3 SubmittersRCV001001297 RCV001827154

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

rs_768154316

4 SubmittersRCV001004540 RCV001836062 RCV004792610

NM_138801.3(GALM):c.244C>T (p.Arg82Ter)

SNV
Germline

Chr2:38675965

Pathogenic

Galactosemia 4
Condition: not provided

Criteria Provided
Single Submitter

rs_115413295

2 SubmittersRCV001093636 RCV003727844

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

Criteria Provided
Conflicting Classifications

rs_114440198

5 SubmittersRCV001093638 RCV001856283 RCV003433013 RCV004702634

NM_138801.3(GALM):c.932G>A (p.Trp311Ter)

SNV
Germline

Chr2:38731890

Pathogenic

Galactosemia 4

No Assertion Criteria Provided

rs_767153310

1 SubmittersRCV001093639

NM_000155.4(GALT):c.904+7C>A

SNV
Germline

Chr9:34649088

Conflicting classifications of pathogenicity

not specified
Galactosemia
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Criteria Provided
Conflicting Classifications

rs_1564102104

3 SubmittersRCV001194276 RCV001828603 RCV002069254

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

rs_1821203474

3 SubmittersRCV001201298 RCV001360296 RCV001828616

NM_000155.4(GALT):c.535G>C (p.Gly179Arg)

SNV
Unknown

Chr9:34648142

Likely pathogenic

Galactosemia

Criteria Provided
Single Submitter

1 SubmittersRCV003389286