Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter)	SNV Germline	Chr14:87963392	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA252877	rs_121908010	3 SubmittersRCV000004022
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	SNV Germline	Chr14:87945593	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259863	rs_387906952	11 SubmittersRCV000023588 RCV001270016
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser)	SNV Germline	Chr14:87941433	Pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA259865	rs_387906953	1 SubmittersRCV000023589
NM_000153.4(GALC):c.1489+1G>A	SNV Germline	Chr14:87947727	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746361	rs_2139956292	2 SubmittersRCV000023591
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	SNV Germline	Chr14:87968386	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259867	rs_199847983	12 SubmittersRCV000023593 RCV000363446
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)	SNV Germline	Chr14:87965585	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA259869	rs_387906954	3 SubmittersRCV000023594
NM_000153.4(GALC):c.121G>A (p.Gly41Ser)	SNV Germline	Chr14:87993044	Pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA259871	rs_387906955	1 SubmittersRCV000023595
NM_000153.4(GALC):c.1161+2T>G	SNV Germline	Chr14:87963382	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA220407	rs_398123175	1 SubmittersRCV000173647
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	SNV Germline	Chr14:87947814	Conflicting classifications of pathogenicity	not specified Condition: not provided Galactosylceramide beta-galactosidase deficiency GALC-related disorder	Criteria Provided Conflicting Classifications	CA145802	rs_34134328	10 SubmittersRCV000078192 RCV000428446 RCV000538364 RCV003944993
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	SNV Germline	Chr14:87986597	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA220408	rs_147313927	29 SubmittersRCV000178047 RCV000256023 RCV000790805
NM_000153.4(GALC):c.349A>G (p.Met117Val)	SNV Germline	Chr14:87986582	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA220410	rs_145580093	8 SubmittersRCV000078201 RCV000545705
NM_000153.4(GALC):c.583-6T>A	SNV Germline	Chr14:87982249	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA220412	rs_398123176	5 SubmittersRCV000078204 RCV001237592
NM_000153.4(GALC):c.862T>C (p.Trp288Arg)	SNV Germline	Chr14:87968381	Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA220413	rs_398123177	2 SubmittersRCV000180100 RCV005614380
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	SNV Germline	Chr14:87945631	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA234058	rs_200378205	9 SubmittersRCV000153296 RCV000174662
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)	SNV Germline	Chr14:87941529	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274200	rs_752537626	15 SubmittersRCV000169344 RCV000723436 RCV001266084
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)	SNV Germline	Chr14:87945566	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274392	rs_748573754	8 SubmittersRCV000169525 RCV003137698
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)	SNV Germline	Chr14:87945632	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274231	rs_749893889	5 SubmittersRCV000169377 RCV001269916
NM_000153.4(GALC):c.908+1G>A	SNV Germline	Chr14:87968334	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided Abnormality of the nervous system	Criteria Provided Multiple Submitters No Conflicts	CA273993	rs_750524447	6 SubmittersRCV000169153 RCV001785485 RCV001814080
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)	SNV Germline	Chr14:87976452	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274279	rs_766310671	8 SubmittersRCV000169413 RCV000727578
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)	SNV Germline	Chr14:87982227	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274237	rs_786204618	3 SubmittersRCV000169386 RCV005632280
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)	SNV Germline	Chr14:87984487	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274053	rs_761550284	6 SubmittersRCV000169212 RCV001785486
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)	SNV Germline	Chr14:87986543	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273994	rs_374635469	4 SubmittersRCV000169155 RCV002298498
NM_000153.4(GALC):c.169G>A (p.Gly57Ser)	SNV Germline	Chr14:87992996	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274898	rs_11623	6 SubmittersRCV000173074 RCV000498062
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)	SNV Germline	Chr14:87945680	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274999	rs_794727116	5 SubmittersRCV000174663 RCV000723965
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)	SNV Germline	Chr14:87988514	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA275055	rs_771111145	9 SubmittersRCV000175531 RCV000723390
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	SNV Germline	Chr14:87934749	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA350966	rs_200607029	11 SubmittersRCV000206966 RCV001093132 RCV004020301
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)	SNV Germline	Chr14:87976451	Conflicting classifications of pathogenicity	not specified Galactosylceramide beta-galactosidase deficiency Condition: not provided GALC-related disorder	Criteria Provided Conflicting Classifications	CA206409	rs_199967869	5 SubmittersRCV000193133 RCV000395974 RCV002261004 RCV003955152
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)	SNV Germline	Chr14:87986600	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided GALC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277469	rs_756690487	6 SubmittersRCV000195270 RCV001269999 RCV004757158
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	SNV Germline	Chr14:87939915	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7296877	rs_138577661	18 SubmittersRCV000345880 RCV001785518
NM_000153.4(GALC):c.443-12T>G	SNV Germline	Chr14:87984545	Conflicting classifications of pathogenicity	not specified Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10587191	rs_886038261	4 SubmittersRCV000248594 RCV001120667 RCV006439874
NM_000153.4(GALC):c.18C>G (p.Leu6=)	SNV Germline	Chr14:87993147	Conflicting classifications of pathogenicity	not specified Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10587193	rs_886038260	4 SubmittersRCV000252321 RCV000279467 RCV003391013
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	SNV Germline	Chr14:87965582	Conflicting classifications of pathogenicity	Condition: not provided not specified Galactosylceramide beta-galactosidase deficiency GALC-related disorder	Criteria Provided Conflicting Classifications	CA7297190	rs_183105855	21 SubmittersRCV000255537 RCV000507823 RCV000590447 RCV004757183
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	SNV Germline	Chr14:87976361	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10588577	rs_886039569	8 SubmittersRCV000256130 RCV000984177
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	SNV Germline	Chr14:87968335	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7297219	rs_756352952	13 SubmittersRCV000285229 RCV000522818
NM_000153.4(GALC):c.973A>G (p.Met325Val)	SNV Germline	Chr14:87965565	Conflicting classifications of pathogenicity	Condition: not provided not specified Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA10603752	rs_772190761	4 SubmittersRCV000345122 RCV001778877 RCV002519072
NM_000153.4(GALC):c.195G>C (p.Gly65=)	SNV Germline	Chr14:87992970	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10603753	rs_886042057	7 SubmittersRCV000400667 RCV000513714
NM_000153.4(GALC):c.832A>C (p.Thr278Pro)	SNV Germline	Chr14:87968411	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10604515	rs_886042645	1 SubmittersRCV000398980
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)	SNV Germline	Chr14:87941512	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7296934	rs_200219480	4 SubmittersRCV000271252 RCV000812178
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)	SNV Germline	Chr14:87945682	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10606606	rs_375867319	7 SubmittersRCV000324608 RCV000726405
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	SNV Germline	Chr14:87965541	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided GALC-related disorder	Criteria Provided Conflicting Classifications	CA7297185	rs_190921137	6 SubmittersRCV000288663 RCV002261049 RCV003910185
NM_000153.4(GALC):c.318G>A (p.Gly106=)	SNV Germline	Chr14:87988154	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA10635492	rs_886050867	2 SubmittersRCV000366170
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	SNV Germline	Chr14:87993124	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided Intellectual disability GALC-related disorder not specified	Criteria Provided Conflicting Classifications	CA7297524	rs_373587692	13 SubmittersRCV000338048 RCV000658703 RCV001251992 RCV003930348 RCV006441756
NM_000153.4(GALC):c.2001A>C (p.Gly667=)	SNV Germline	Chr14:87934789	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7296835	rs_769902280	2 SubmittersRCV000397972
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)	SNV Germline	Chr14:87945650	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency GALC-related disorder	Criteria Provided Conflicting Classifications	CA7296979	rs_146286491	4 SubmittersRCV000262278 RCV003940223
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)	SNV Germline	Chr14:87993137	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7297530	rs_767913083	5 SubmittersRCV000373901 RCV004021621 RCV006277789
NM_000153.4(GALC):c.195+15G>A	SNV Germline	Chr14:87992955	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA10645184	rs_748140458	3 SubmittersRCV000271678
NM_000153.4(GALC):c.450A>T (p.Pro150=)	SNV Germline	Chr14:87984526	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA10646467	rs_886050866	3 SubmittersRCV000390034
NM_000153.4(GALC):c.81C>T (p.Ala27=)	SNV Germline	Chr14:87993084	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7297509	rs_759433028	3 SubmittersRCV000381404
NM_000153.4(GALC):c.-67T>G	SNV Germline	Chr14:87993231	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10646480	rs_571945132	7 SubmittersRCV000349528 RCV003314588 RCV005407042
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)	SNV Germline	Chr14:87976482	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA7297285	rs_202131052	11 SubmittersRCV000408648 RCV000514309 RCV004022127
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)	SNV Germline	Chr14:87939926	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041690	rs_1057516453	3 SubmittersRCV000411823 RCV000482303
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter)	SNV Unknown	Chr14:87939979	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA16041692	rs_1057517033	1 SubmittersRCV000410434
NM_000153.4(GALC):c.1670+1G>A	SNV Germline	Chr14:87945552	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA7296962	rs_749597090	2 SubmittersRCV000409892
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	SNV Germline	Chr14:87945637	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided GALC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7296976	rs_200960659	19 SubmittersRCV000410159 RCV001093133 RCV004757227
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter)	SNV Unknown	Chr14:87963480	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA16041696	rs_1057516270	1 SubmittersRCV000411899
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)	SNV Germline	Chr14:87965586	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041700	rs_1057516642	4 SubmittersRCV000412229 RCV001782868
NM_000153.4(GALC):c.946C>T (p.Gln316Ter)	SNV Germline	Chr14:87965592	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA16041701	rs_776368825	2 SubmittersRCV000411117
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)	SNV Germline	Chr14:87984443	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16041702	rs_968905231	4 SubmittersRCV000410261
NM_000153.4(GALC):c.442+2T>G	SNV Unknown	Chr14:87986487	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA16041704	rs_1057516632	1 SubmittersRCV000411149
NM_000153.4(GALC):c.415A>T (p.Lys139Ter)	SNV Unknown	Chr14:87986516	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA16041705	rs_1057516673	1 SubmittersRCV000411282
NM_000153.4(GALC):c.328+1G>T	SNV Germline	Chr14:87988143	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7297435	rs_779701490	4 SubmittersRCV000409516
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)	SNV Germline	Chr14:87993036	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041707	rs_1057516816	5 SubmittersRCV000410107 RCV004719807
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	SNV Germline	Chr14:87968393	Pathogenic/Likely pathogenic	19 conditions Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7297231	rs_377274761	7 SubmittersRCV000415223 RCV000588587 RCV001785610
NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	SNV Unknown	Chr14:87988523	Likely pathogenic	19 conditions Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA16043485	rs_1057518843	1 SubmittersRCV000415102 RCV001198292
NM_000153.4(GALC):c.-327G>T	SNV Germline	Chr14:87993491	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7297559	rs_185943390	4 SubmittersRCV000416202 RCV000765183
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)	SNV Germline	Chr14:87934803	Conflicting classifications of pathogenicity	Abnormal brain morphology Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA16609532	rs_1060499761	3 SubmittersRCV000454130 RCV000675127
NM_000153.4(GALC):c.379C>T (p.Arg127Ter)	SNV Germline	Chr14:87986552	Pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7297405	rs_200532368	10 SubmittersRCV000493135 RCV000590611
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)	SNV Germline	Chr14:87947749	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA264685589	rs_202135871	4 SubmittersRCV000498864 RCV000668258
NM_000153.4(GALC):c.195+1G>A	SNV Germline	Chr14:87992969	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390771649	rs_1009872980	4 SubmittersRCV000498766 RCV000666305
NM_000153.4(GALC):c.194G>A (p.Gly65Glu)	SNV Germline	Chr14:87992971	Pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA390771651	rs_1555384318	1 SubmittersRCV000502588
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter)	SNV Germline	Chr14:87965507	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390747401	rs_1555381559	1 SubmittersRCV000518907
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)	SNV Germline	Chr14:87988206	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency See cases not specified	Criteria Provided Conflicting Classifications	CA7297441	rs_201422931	10 SubmittersRCV000522459 RCV000673406 RCV002252151 RCV002307527
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	SNV Germline	Chr14:87950724	Pathogenic	Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7297101	rs_770485731	9 SubmittersRCV000539298 RCV001266086 RCV001547432
NM_000153.4(GALC):c.525C>T (p.Val175=)	SNV Germline	Chr14:87984451	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA7297342	rs_181066089	12 SubmittersRCV000591824 RCV001081964 RCV001532905
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)	SNV Germline	Chr14:87984398	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA390751369	rs_1555383498	3 SubmittersRCV000625867
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)	SNV Germline	Chr14:87947823	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746560	rs_1566974586	2 SubmittersRCV000680275
NM_000153.4(GALC):c.1338+1G>C	SNV Germline	Chr14:87949844	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390746696	rs_1555379669	3 SubmittersRCV000665262
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)	SNV Germline	Chr14:87950736	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA390747072	rs_1200769534	3 SubmittersRCV000671847
NM_000153.4(GALC):c.621+5G>A	SNV Germline	Chr14:87982200	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA658823912	rs_1555383306	2 SubmittersRCV000665486
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)	SNV Germline	Chr14:87986544	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390752571	rs_1240965365	3 SubmittersRCV000672034
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter)	SNV Unknown	Chr14:87988497	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA390753405	rs_959445153	1 SubmittersRCV000669432
NM_000153.4(GALC):c.3G>A (p.Met1Ile)	SNV Unknown	Chr14:87993162	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA7297538	rs_758685128	1 SubmittersRCV000669874
NM_000153.4(GALC):c.2T>A (p.Met1Lys)	SNV Unknown	Chr14:87993163	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA7297539	rs_780972896	1 SubmittersRCV000669876
NM_000153.4(GALC):c.1A>G (p.Met1Val)	SNV Unknown	Chr14:87993164	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA390772190	rs_1555384382	1 SubmittersRCV000671876
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	SNV Germline	Chr14:87934841	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided not specified See cases	Criteria Provided Conflicting Classifications	CA390745306	rs_1249991480	9 SubmittersRCV000671889 RCV000995226 RCV001420862 RCV003985407
NM_000153.4(GALC):c.621G>A (p.Lys207=)	SNV Germline	Chr14:87982205	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA487366335	rs_1428763453	7 SubmittersRCV000664849 RCV001193605 RCV003886427
NM_000153.4(GALC):c.583-1G>C	SNV Germline	Chr14:87982244	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390750895	rs_1555383310	2 SubmittersRCV000672459
NM_000153.4(GALC):c.195+1G>C	SNV Unknown	Chr14:87992969	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA390771648	rs_1009872980	1 SubmittersRCV000670477
NM_000153.4(GALC):c.179C>T (p.Ala60Val)	SNV Germline	Chr14:87992986	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7297492	rs_759110815	3 SubmittersRCV000666126 RCV003480753
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter)	SNV Germline	Chr14:87993036	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390771780	rs_1057516816	2 SubmittersRCV000673403
NM_000153.4(GALC):c.1912-1G>C	SNV Unknown	Chr14:87934879	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA390745387	rs_1555377947	1 SubmittersRCV000664672
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)	SNV Germline	Chr14:87950723	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA264688612	rs_887930208	4 SubmittersRCV000671990 RCV003479198
NM_000153.4(GALC):c.908+1G>T	SNV Unknown	Chr14:87968334	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA390747679	rs_750524447	1 SubmittersRCV000665967
NM_000153.4(GALC):c.884A>C (p.Asn295Thr)	SNV Germline	Chr14:87968359	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA7297224	rs_746922378	2 SubmittersRCV000666177
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)	SNV Germline	Chr14:87988516	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390753441	rs_1555383892	4 SubmittersRCV000668173
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter)	SNV Unknown	Chr14:87934812	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA390745241	rs_762034337	1 SubmittersRCV000666184
NM_000153.4(GALC):c.1835-1G>A	SNV Germline	Chr14:87939982	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390745565	rs_1555378562	3 SubmittersRCV000665460
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)	SNV Germline	Chr14:87965611	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7297196	rs_758904079	4 SubmittersRCV000664582 RCV005632588
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)	SNV Germline	Chr14:87965622	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA390747655	rs_1349064845	3 SubmittersRCV000666688
NM_000153.4(GALC):c.621+1G>A	SNV Germline	Chr14:87982204	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA7297305	rs_759511006	4 SubmittersRCV000664820 RCV005901435
NM_000153.4(GALC):c.49A>G (p.Met17Val)	SNV Germline	Chr14:87993116	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA7297521	rs_376662045	5 SubmittersRCV000675272 RCV002066986 RCV001779052
NM_000153.4(GALC):c.787G>A (p.Ala263Thr)	SNV Germline	Chr14:87968456	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA390748135	rs_1308816724	5 SubmittersRCV000697346 RCV003329326
NM_000153.4(GALC):c.592G>A (p.Glu198Lys)	SNV Germline	Chr14:87982234	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA264710625	rs_909979938	4 SubmittersRCV000727591 RCV001830595
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter)	SNV Germline	Chr14:87945558	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390745957	rs_1566972341	1 SubmittersRCV000728985
NM_000153.4(GALC):c.1592G>C (p.Arg531Pro)	SNV Germline	Chr14:87945631	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390746116	rs_200378205	3 SubmittersRCV000761503 RCV005438028
NM_000153.4(GALC):c.1671-1G>A	SNV Germline	Chr14:87941559	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390745933	rs_1182103005	4 SubmittersRCV000779148 RCV005092317
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)	SNV Germline	Chr14:87993029	Pathogenic	Galactosylceramide beta-galactosidase deficiency GALC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7297497	rs_751975987	6 SubmittersRCV000781395 RCV004757281
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)	SNV Germline	Chr14:87965534	Pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7297183	rs_757407613	3 SubmittersRCV000806470 RCV002279541
NM_000153.4(GALC):c.560A>T (p.Asp187Val)	SNV Germline	Chr14:87984416	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA264711077	rs_997021099	6 SubmittersRCV000796371 RCV003144601
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)	SNV Germline	Chr14:87984523	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7297355	rs_745620101	4 SubmittersRCV000795746 RCV003141780
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)	SNV Germline	Chr14:87988484	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7297457	rs_73312829	7 SubmittersRCV000811717 RCV003132077 RCV002538105 RCV002282375
NM_000153.4(GALC):c.443-2A>G	SNV Germline	Chr14:87984535	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390751979	rs_1595236714	1 SubmittersRCV000802627
NM_000153.4(GALC):c.1272G>A (p.Gln424=)	SNV Germline	Chr14:87949911	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7297067	rs_376675180	4 SubmittersRCV000873073 RCV002064720
NM_000153.4(GALC):c.530C>A (p.Thr177Asn)	SNV Germline	Chr14:87984446	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7297340	rs_115869593	2 SubmittersRCV000872010 RCV004792562
NM_000153.4(GALC):c.120C>T (p.Gly40=)	SNV Germline	Chr14:87993045	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA265469448	rs_532800656	4 SubmittersRCV000957480 RCV006442247
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly)	SNV Unknown	Chr14:87941539	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745889	rs_1595190129	1 SubmittersRCV000989250
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)	SNV Germline	Chr14:87968359	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA264703903	rs_746922378	5 SubmittersRCV000989251
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)	SNV Germline	Chr14:87968375	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA7297226	rs_780750448	7 SubmittersRCV000991305 RCV001784520 RCV002550623
NM_000153.4(GALC):c.869G>A (p.Arg290His)	SNV Germline	Chr14:87968374	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA264703931	rs_746806459	4 SubmittersRCV001030028 RCV006455343
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)	SNV Germline	Chr14:87934788	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390745190	rs_1884498480	2 SubmittersRCV001062997
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)	SNV Germline	Chr14:87939918	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7296881	rs_766762599	4 SubmittersRCV001064405
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter)	SNV Germline	Chr14:87941436	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745666	rs_1884845930	1 SubmittersRCV001038602
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr)	SNV Germline	Chr14:87968383	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747835	rs_769433488	1 SubmittersRCV001061371
NM_000153.4(GALC):c.443-1G>C	SNV Germline	Chr14:87984534	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390751977	rs_1886890531	1 SubmittersRCV001070327
NM_000153.4(GALC):c.264+1G>A	SNV Germline	Chr14:87988454	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390753311	rs_1458925593	3 SubmittersRCV001051364 RCV005411646
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)	SNV Germline	Chr14:87934848	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA390745323	rs_1884501856	4 SubmittersRCV001090091 RCV003238303
NM_000153.4(GALC):c.391T>C (p.Trp131Arg)	SNV Germline	Chr14:87986540	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7297399	rs_746507078	4 SubmittersRCV001093135 RCV001873460
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)	SNV Germline	Chr14:87968413	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Fabry disease	Criteria Provided Multiple Submitters No Conflicts	CA390747959	rs_1886145312	3 SubmittersRCV001250794 RCV004545052
NM_000153.4(GALC):c.1443A>G (p.Pro481=)	SNV Germline	Chr14:87947774	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA487355628	rs_1359281521	2 SubmittersRCV001115669
NM_000153.4(GALC):c.708C>T (p.Ser236=)	SNV Germline	Chr14:87976402	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency GALC-related disorder	Criteria Provided Conflicting Classifications	CA7297271	rs_773666802	3 SubmittersRCV001118734 RCV003906221
NM_000153.4(GALC):c.136G>C (p.Asp46His)	SNV Germline	Chr14:87993029	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7297498	rs_751975987	2 SubmittersRCV001115752
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	SNV Germline	Chr14:87976437	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Spastic ataxia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390749592	rs_1436074042	7 SubmittersRCV001195147 RCV001644930 RCV001508371
NM_000153.4(GALC):c.442+1G>A	SNV Unknown	Chr14:87986488	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390752299	rs_1886976159	1 SubmittersRCV001199004
NM_000153.4(GALC):c.863G>A (p.Trp288Ter)	SNV Germline	Chr14:87968380	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA264703972	rs_372621124	1 SubmittersRCV001209816
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)	SNV Germline	Chr14:87976436	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7297279	rs_373077659	4 SubmittersRCV001237593
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)	SNV Germline	Chr14:87934856	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA7296844	rs_780593419	1 SubmittersRCV001269990
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)	SNV Germline	Chr14:87963438	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390747226	rs_1885895082	1 SubmittersRCV001269902
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)	SNV Germline	Chr14:87965556	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390747510	rs_1337518083	3 SubmittersRCV001269502 RCV001390629
NM_000153.4(GALC):c.764C>G (p.Pro255Arg)	SNV Germline	Chr14:87968479	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390748225	rs_1886148366	1 SubmittersRCV001269896
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)	SNV Germline	Chr14:87976430	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA390749561	rs_1886495923	4 SubmittersRCV001278165 RCV004690048 RCV003130237
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)	SNV Germline	Chr14:87993100	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7297514	rs_372285275	4 SubmittersRCV001278963 RCV003481045 RCV004035479
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)	SNV Germline	Chr14:87941476	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390745752	rs_2503340730	2 SubmittersRCV001281624 RCV002246275
NM_000153.4(GALC):c.1339-1G>T	SNV Germline	Chr14:87947879	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746686	rs_1885138493	1 SubmittersRCV001290963
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)	SNV Germline	Chr14:87945589	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA390746026	rs_1289015582	3 SubmittersRCV001326439 RCV001760417
NM_000153.4(GALC):c.797C>T (p.Thr266Ile)	SNV Unknown	Chr14:87968446	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter	CA390748093	rs_867226993	1 SubmittersRCV001647255
NM_000153.4(GALC):c.821A>C (p.Glu274Ala)	SNV Germline	Chr14:87968422	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390748003	rs_2140001660	2 SubmittersRCV001367963
NM_000153.4(GALC):c.750A>G (p.Ile250Met)	SNV Germline	Chr14:87976360	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA390749252	rs_2140016054	2 SubmittersRCV001361588
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)	SNV Germline	Chr14:87934734	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390745072	rs_1406731723	4 SubmittersRCV001377987 RCV004762137
NM_000153.4(GALC):c.1252-2A>G	SNV Germline	Chr14:87949933	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746896	rs_1166863449	1 SubmittersRCV001379734
NM_000153.4(GALC):c.1033+1G>A	SNV Germline	Chr14:87965504	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747397	rs_2139996044	2 SubmittersRCV001378716
NM_000153.4(GALC):c.752+1G>A	SNV Germline	Chr14:87976357	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390749239	rs_2140016050	1 SubmittersRCV001378544
NM_000153.4(GALC):c.582+1G>A	SNV Germline	Chr14:87984393	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided Acute myeloid leukemia	Criteria Provided Multiple Submitters No Conflicts	CA7297331	rs_750881596	5 SubmittersRCV001378267 RCV003490236 RCV005912601
NM_000153.4(GALC):c.349A>C (p.Met117Leu)	SNV Germline	Chr14:87986582	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390752765	rs_145580093	3 SubmittersRCV001377131 RCV003481102
NM_000153.4(GALC):c.200C>T (p.Thr67Ile)	SNV Germline	Chr14:87988519	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390753447	rs_1478697086	2 SubmittersRCV001379158 RCV004526120
NM_000153.4(GALC):c.37C>T (p.Arg13Ter)	SNV Germline	Chr14:87993128	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390772040	rs_1173602413	1 SubmittersRCV001385409
NM_000153.4(GALC):c.739G>T (p.Val247Phe)	SNV Germline	Chr14:87976371	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390749292	rs_2140016089	1 SubmittersRCV001391225
NM_000153.4(GALC):c.1803A>G (p.Ala601=)	SNV Germline	Chr14:87941426	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided GALC-related disorder	Criteria Provided Conflicting Classifications	CA7296921	rs_372465848	3 SubmittersRCV001456200 RCV002276740 RCV003900567
NM_000153.4(GALC):c.196-9T>C	SNV Germline	Chr14:87988532	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7297464	rs_776907825	2 SubmittersRCV001461459 RCV003238371
NM_000153.4(GALC):c.332G>A (p.Gly111Asp)	SNV Germline	Chr14:87986599	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7297413	rs_746487628	5 SubmittersRCV001508372 RCV001865941
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)	SNV Germline	Chr14:87939958	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7296890	rs_779864190	3 SubmittersRCV001581583 RCV001827515
NM_000153.4(GALC):c.396G>A (p.Trp132Ter)	SNV Germline	Chr14:87986535	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390752515	rs_2139754775	2 SubmittersRCV001730058
NM_000153.4(GALC):c.1251T>C (p.Phe417=)	SNV Germline	Chr14:87950659	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided	CA264688579	rs_200605515	3 SubmittersRCV001730447 RCV005614668
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)	SNV Germline	Chr14:87947817	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA390746550	rs_750431739	2 SubmittersRCV001775349
NM_000153.4(GALC):c.622-1G>T	SNV Germline	Chr14:87976489	Pathogenic/Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390749842	rs_1886499951	3 SubmittersRCV001785866 RCV002034564
NM_000153.4(GALC):c.169G>C (p.Gly57Arg)	SNV Germline	Chr14:87992996	Conflicting classifications of pathogenicity	Condition: not provided Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA265469440	rs_11623	3 SubmittersRCV001782165 RCV003502609 RCV006269474
NM_000153.4(GALC):c.1842G>A (p.Trp614Ter)	SNV Germline	Chr14:87939974	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390745548	rs_1884767890	1 SubmittersRCV001782166
NM_000153.4(GALC):c.1913G>T (p.Gly638Val)	SNV Germline	Chr14:87934877	Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390745381	rs_1162671660	3 SubmittersRCV001782167 RCV002034592
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu)	SNV Germline	Chr14:87941493	Likely pathogenic	Condition: not provided Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390745792	rs_1423625765	2 SubmittersRCV001782168 RCV002544261
NM_000153.4(GALC):c.1252-1G>C	SNV Germline	Chr14:87949932	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390746893	rs_2139961690	2 SubmittersRCV001806306
NM_000153.4(GALC):c.1781G>T (p.Gly594Val)	SNV Germline	Chr14:87941448	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745692	rs_2139941367	1 SubmittersRCV001806381
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)	SNV Germline	Chr14:87950666	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA390746917	rs_1365128831	2 SubmittersRCV001810538
NM_000153.4(GALC):c.1400C>A (p.Thr467Asn)	SNV Germline	Chr14:87947817	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA7297021	rs_750431739	2 SubmittersRCV001825318
NM_000153.4(GALC):c.329-1G>A	SNV Germline	Chr14:87986603	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390752855	rs_1365632054	1 SubmittersRCV001989530
NM_000153.4(GALC):c.764C>A (p.Pro255His)	SNV Germline	Chr14:87968479	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390748227	rs_1886148366	1 SubmittersRCV002018966
NM_000153.4(GALC):c.1270C>T (p.Gln424Ter)	SNV Germline	Chr14:87949913	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746847	rs_2139961653	1 SubmittersRCV001957344
NM_000153.4(GALC):c.175G>A (p.Gly59Ser)	SNV Germline	Chr14:87992990	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7297493	rs_764757647	3 SubmittersRCV001990721
NM_000153.4(GALC):c.328+1G>A	SNV Germline	Chr14:87988143	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390753160	rs_779701490	2 SubmittersRCV001996482
NM_000153.4(GALC):c.1898C>G (p.Thr633Arg)	SNV Germline	Chr14:87939918	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745424	rs_766762599	1 SubmittersRCV001996330
NM_000153.4(GALC):c.169G>T (p.Gly57Cys)	SNV Germline	Chr14:87992996	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390771699	rs_11623	1 SubmittersRCV002050063
NM_000153.4(GALC):c.940T>C (p.Tyr314His)	SNV Germline	Chr14:87965598	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390747600	rs_2139996434	2 SubmittersRCV001970934 RCV006458832
NM_000153.4(GALC):c.170G>T (p.Gly57Val)	SNV Germline	Chr14:87992995	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390771696	rs_1217139658	1 SubmittersRCV001969662
NM_000153.4(GALC):c.967G>A (p.Gly323Arg)	SNV Germline	Chr14:87965571	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747543	rs_1472207768	1 SubmittersRCV001972681
NM_000153.4(GALC):c.264+3A>C	SNV Germline	Chr14:87988452	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA2573150202	rs_1567014543	1 SubmittersRCV001969329
NM_000153.4(GALC):c.265-2A>G	SNV Germline	Chr14:87988209	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7297442	rs_199710405	3 SubmittersRCV001916717
NM_000153.4(GALC):c.1338+1G>T	SNV Germline	Chr14:87949844	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746695	rs_1555379669	1 SubmittersRCV001976360
NM_000153.4(GALC):c.1757G>A (p.Gly586Asp)	SNV Germline	Chr14:87941472	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745744	rs_2139941444	1 SubmittersRCV002025554
NM_000153.4(GALC):c.2002A>G (p.Thr668Ala)	SNV Germline	Chr14:87934788	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745189	rs_1884498480	1 SubmittersRCV002022185
NM_000153.4(GALC):c.29G>A (p.Trp10Ter)	SNV Germline	Chr14:87993136	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390772079	rs_2139769937	1 SubmittersRCV001957238
NM_000153.4(GALC):c.199A>C (p.Thr67Pro)	SNV Germline	Chr14:87988520	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390753450	rs_2139759522	1 SubmittersRCV001990996
NM_000153.4(GALC):c.1276T>G (p.Trp426Gly)	SNV Germline	Chr14:87949907	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746833	rs_2139961618	1 SubmittersRCV001995690
NM_000153.4(GALC):c.1670+1G>T	SNV Germline	Chr14:87945552	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745940	rs_749597090	1 SubmittersRCV002009679
NM_000153.4(GALC):c.1592G>T (p.Arg531Leu)	SNV Germline	Chr14:87945631	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746115	rs_200378205	1 SubmittersRCV002037226
NM_000153.4(GALC):c.967G>T (p.Gly323Trp)	SNV Germline	Chr14:87965571	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390747541	rs_1472207768	2 SubmittersRCV001883164
NM_000153.4(GALC):c.505C>T (p.Gln169Ter)	SNV Germline	Chr14:87984471	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390751710	rs_2139749699	1 SubmittersRCV001913382
NM_000153.4(GALC):c.1291G>T (p.Gly431Ter)	SNV Germline	Chr14:87949892	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746797	rs_2139961576	1 SubmittersRCV001910300
NM_000153.4(GALC):c.461C>A (p.Pro154His)	SNV Germline	Chr14:87984515	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7297353	rs_758557526	2 SubmittersRCV001953581 RCV003481220
NM_000153.4(GALC):c.329-2A>G	SNV Germline	Chr14:87986604	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390752857	rs_2139755114	1 SubmittersRCV002020771
NM_000153.4(GALC):c.941A>G (p.Tyr314Cys)	SNV Germline	Chr14:87965597	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747597	rs_1595215209	1 SubmittersRCV001956487
NM_000153.4(GALC):c.349A>T (p.Met117Leu)	SNV Germline	Chr14:87986582	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390752762	rs_145580093	3 SubmittersRCV001949562
NM_000153.4(GALC):c.1829A>C (p.Asp610Ala)	SNV Germline	Chr14:87941400	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA7296917	rs_754732860	1 SubmittersRCV001986266
NM_000153.4(GALC):c.1027G>T (p.Val343Leu)	SNV Germline	Chr14:87965511	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7297179	rs_753217734	2 SubmittersRCV002215540 RCV003491031
NM_000153.4(GALC):c.1896C>G (p.Leu632=)	SNV Germline	Chr14:87939920	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA487355290	rs_1884764241	2 SubmittersRCV002148441 RCV003134394
NM_000153.4(GALC):c.2054G>A (p.Arg685His)	SNV Germline	Chr14:87934736	Conflicting classifications of pathogenicity	Inborn genetic diseases Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7296823	rs_529469325	2 SubmittersRCV003025387 RCV002115157
NM_000153.4(GALC):c.193G>T (p.Gly65Trp)	SNV Germline	Chr14:87992972	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390771653	rs_1887277350	1 SubmittersRCV002223160
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp)	SNV Germline	Chr14:87941475	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA7296929	rs_776098499	2 SubmittersRCV002249049
NM_000153.4(GALC):c.896G>A (p.Gly299Asp)	SNV Germline	Chr14:87968347	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency See cases Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA390747710	rs_1566993126	4 SubmittersRCV002249050 RCV002252778 RCV005574916
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)	SNV Germline	Chr14:87934838	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745301	rs_2503316638	1 SubmittersRCV002283388
NM_000153.4(GALC):c.1834+1G>A	SNV Germline	Chr14:87941394	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390745574	rs_1884843673	3 SubmittersRCV002283423
NM_000153.4(GALC):c.957T>A (p.Tyr319Ter)	SNV Unknown	Chr14:87965581	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747565	rs_1158171614	1 SubmittersRCV002309677
NM_000153.4(GALC):c.1168A>T (p.Lys390Ter)	SNV Unknown	Chr14:87950742	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747087	rs_2139963715	1 SubmittersRCV002309932
NM_000153.4(GALC):c.1031C>A (p.Ser344Ter)	SNV Unknown	Chr14:87965507	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747400	rs_1555381559	1 SubmittersRCV002306922
NM_000153.4(GALC):c.1240A>T (p.Lys414Ter)	SNV Unknown	Chr14:87950670	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746927	rs_1885265714	1 SubmittersRCV002307215
NM_000153.4(GALC):c.1420A>T (p.Lys474Ter)	SNV Unknown	Chr14:87947797	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746518	rs_2503362968	1 SubmittersRCV002310137
NM_000153.4(GALC):c.403A>T (p.Lys135Ter)	SNV Unknown	Chr14:87986528	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390752472	rs_2503518940	1 SubmittersRCV002310205
NM_000153.4(GALC):c.1671-2A>G	SNV Germline	Chr14:87941560	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745934	rs_1400447609	1 SubmittersRCV003062647
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)	SNV Germline	Chr14:87963394	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA390747138	rs_1376496659	3 SubmittersRCV003062648 RCV005861310
NM_000153.4(GALC):c.1034-2A>G	SNV Germline	Chr14:87963513	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390747390	rs_2503431601	3 SubmittersRCV003058447 RCV004697249
NM_000153.4(GALC):c.392G>A (p.Trp131Ter)	SNV Germline	Chr14:87986539	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390752550	rs_2503519059	1 SubmittersRCV003041211
NM_000153.4(GALC):c.246A>G (p.Ile82Met)	SNV Germline	Chr14:87988473	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390753357	rs_1887063180	2 SubmittersRCV003058448
NM_000153.4(GALC):c.236G>A (p.Arg79His)	SNV Germline	Chr14:87988483	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7297456	rs_370117160	4 SubmittersRCV003064235 RCV003064234 RCV003491207
NM_000153.4(GALC):c.484G>A (p.Asp162Asn)	SNV Germline	Chr14:87984492	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7297346	rs_534598133	2 SubmittersRCV003074729 RCV006363067
NM_000153.4(GALC):c.2042T>C (p.Val681Ala)	SNV Germline	Chr14:87934748	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA7296827	rs_768745262	2 SubmittersRCV003092374 RCV006460433
NM_000153.4(GALC):c.757C>T (p.His253Tyr)	SNV Germline	Chr14:87968486	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA7297243	rs_781003161	2 SubmittersRCV003061603 RCV003331429
NM_000153.4(GALC):c.1318A>T (p.Lys440Ter)	SNV Germline	Chr14:87949865	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746743	rs_2503371759	1 SubmittersRCV002615973
NM_000153.4(GALC):c.1251+5G>C	SNV Germline	Chr14:87950654	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA7297089	rs_755870379	1 SubmittersRCV002637386
NM_000153.4(GALC):c.851G>A (p.Gly284Asp)	SNV Germline	Chr14:87968392	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747862	rs_1397152875	1 SubmittersRCV003106266
NM_000153.4(GALC):c.1321C>T (p.Gln441Ter)	SNV Germline	Chr14:87949862	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746735	rs_1885230326	1 SubmittersRCV002617150
NM_000153.4(GALC):c.655C>T (p.Gln219Ter)	SNV Germline	Chr14:87976455	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA390749660	rs_2503477272	2 SubmittersRCV002618045
NM_000153.4(GALC):c.1911+4A>G	SNV Germline	Chr14:87939901	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2153352682	rs_1884762471	2 SubmittersRCV002667584 RCV006442821
NM_000153.4(GALC):c.583-2A>G	SNV Germline	Chr14:87982245	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390750902	rs_1217317914	1 SubmittersRCV002750290
NM_000153.4(GALC):c.1068T>G (p.Tyr356Ter)	SNV Germline	Chr14:87963477	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747314	rs_1349405657	1 SubmittersRCV002761005
NM_000153.4(GALC):c.236G>C (p.Arg79Pro)	SNV Germline	Chr14:87988483	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390753377	rs_370117160	2 SubmittersRCV002820724 RCV004700838
NM_000153.4(GALC):c.195+2T>C	SNV Germline	Chr14:87992968	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390771646	rs_954071713	1 SubmittersRCV002828314
NM_000153.4(GALC):c.593A>C (p.Glu198Ala)	SNV Germline	Chr14:87982233	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390750842	rs_2503500771	1 SubmittersRCV002863814
NM_000153.4(GALC):c.1162-1G>A	SNV Germline	Chr14:87950749	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747106	rs_2503376595	1 SubmittersRCV002876897
NM_000153.4(GALC):c.582+2T>C	SNV Germline	Chr14:87984392	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390751346	rs_2503509293	1 SubmittersRCV002880461
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)	SNV Germline	Chr14:87947767	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390746452	rs_1885132066	2 SubmittersRCV003009600 RCV003146726
NM_000153.4(GALC):c.1489+1G>C	SNV Germline	Chr14:87947727	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746360	rs_2139956292	1 SubmittersRCV003018245
NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)	SNV Germline	Chr14:87947748	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390746413	rs_2503362421	2 SubmittersRCV003033597 RCV004526218
NM_000153.4(GALC):c.868C>A (p.Arg290Ser)	SNV Germline	Chr14:87968375	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747796	rs_780750448	1 SubmittersRCV003027002
NM_000153.4(GALC):c.395G>A (p.Trp132Ter)	SNV Germline	Chr14:87986536	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390752517	rs_2503519040	1 SubmittersRCV003019873
NM_000153.4(GALC):c.389A>G (p.Glu130Gly)	SNV Germline	Chr14:87986542	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390752564	rs_2503519099	1 SubmittersRCV003039552
NM_000153.4(GALC):c.1664A>G (p.Tyr555Cys)	SNV Germline	Chr14:87945559	Conflicting classifications of pathogenicity	Inborn genetic diseases Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA390745959	rs_1428571249	2 SubmittersRCV002896359 RCV005412497
NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)	SNV Germline	Chr14:87941544	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745901	rs_398607	1 SubmittersRCV003229548
NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)	SNV Germline	Chr14:87939934	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390745461	rs_2503334646	1 SubmittersRCV003229550
NM_000153.4(GALC):c.1623G>A (p.Trp541Ter)	SNV Unknown	Chr14:87945600	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746049	rs_2503354229	1 SubmittersRCV003246684
NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)	SNV Germline	Chr14:87963480	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390747320	rs_1057516270	2 SubmittersRCV005061265 RCV006460582
NM_000153.4(GALC):c.911C>T (p.Thr304Ile)	SNV Unknown	Chr14:87965627	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747662	rs_2503440863	1 SubmittersRCV003459831
NM_000153.4(GALC):c.824A>G (p.Asp275Gly)	SNV Germline	Chr14:87968419	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747987	rs_1886145706	1 SubmittersRCV003324308
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)	SNV Germline	Chr14:87965585	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747571	rs_387906954	2 SubmittersRCV003328087
NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)	SNV Germline	Chr14:87934787	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390745186	rs_759515663	1 SubmittersRCV003334168
NM_000153.4(GALC):c.264+2T>G	SNV Germline	Chr14:87988453	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390753306	rs_1235473172	1 SubmittersRCV003448829
NM_000153.4(GALC):c.170G>A (p.Gly57Asp)	SNV Germline	Chr14:87992995	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390771698	rs_1217139658	2 SubmittersRCV003502803
NM_000153.4(GALC):c.1507G>T (p.Glu503Ter)	SNV Germline	Chr14:87945716	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390746305	rs_1349512789	1 SubmittersRCV003503482
NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)	SNV Germline	Chr14:87963394	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747139	rs_1376496659	1 SubmittersRCV003503701
NM_000153.4(GALC):c.175G>C (p.Gly59Arg)	SNV Germline	Chr14:87992990	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390771689	rs_764757647	2 SubmittersRCV003502012 RCV004697301
NM_000153.4(GALC):c.316G>A (p.Gly106Arg)	SNV Germline	Chr14:87988156	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA7297436	rs_749615956	1 SubmittersRCV003502183
NM_000153.4(GALC):c.11G>A (p.Trp4Ter)	SNV Germline	Chr14:87993154	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390772160	rs_2503550047	1 SubmittersRCV003502343
NM_000153.4(GALC):c.175G>T (p.Gly59Cys)	SNV Germline	Chr14:87992990	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA265469438	rs_764757647	1 SubmittersRCV003502456
NM_000153.4(GALC):c.582+1G>C	SNV Germline	Chr14:87984393	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390751351	rs_750881596	1 SubmittersRCV003503340
NM_000153.4(GALC):c.200C>A (p.Thr67Asn)	SNV Germline	Chr14:87988519	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390753449	rs_1478697086	1 SubmittersRCV003503974
NM_000153.4(GALC):c.2042T>G (p.Val681Gly)	SNV Germline	Chr14:87934748	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390745095	rs_768745262	2 SubmittersRCV003609596 RCV006454455
NM_000153.4(GALC):c.264+2T>C	SNV Germline	Chr14:87988453	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390753308	rs_1235473172	1 SubmittersRCV003610092
NM_000153.4(GALC):c.1102G>T (p.Gly368Ter)	SNV Germline	Chr14:87963443	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747235	rs_1410766358	1 SubmittersRCV003610435
NM_000153.4(GALC):c.1034-1G>C	SNV Germline	Chr14:87963512	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA264701269	rs_955287913	2 SubmittersRCV003610468
NM_000153.4(GALC):c.255T>A (p.Tyr85Ter)	SNV Germline	Chr14:87988464	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390753335	rs_2503528053	1 SubmittersRCV003608998
NM_000153.4(GALC):c.856G>C (p.Gly286Arg)	SNV Germline	Chr14:87968387	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747849	rs_2503449824	1 SubmittersRCV003609014
NM_000153.4(GALC):c.822A>C (p.Glu274Asp)	SNV Germline	Chr14:87968421	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390748000	rs_750448899	1 SubmittersRCV003609072
NM_000153.4(GALC):c.1161+2T>A	SNV Germline	Chr14:87963382	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747112	rs_398123175	1 SubmittersRCV003609139
NM_000153.4(GALC):c.166G>C (p.Asp56His)	SNV Germline	Chr14:87992999	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390771706	rs_906992891	1 SubmittersRCV003837838
NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)	SNV Germline	Chr14:87939957	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency not specified	Criteria Provided Conflicting Classifications	CA390745508	rs_1210612295	2 SubmittersRCV003836277 RCV004801411
NM_000153.4(GALC):c.488G>A (p.Trp163Ter)	SNV Germline	Chr14:87984488	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390751785	rs_1182199981	1 SubmittersRCV003858528
NM_000153.4(GALC):c.388G>C (p.Glu130Gln)	SNV Germline	Chr14:87986543	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA7297400	rs_374635469	1 SubmittersRCV003873939
NM_000153.4(GALC):c.1162-2A>G	SNV Germline	Chr14:87950750	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter	CA390747109	rs_1168273921	1 SubmittersRCV004018236
NM_000153.4(GALC):c.443G>A (p.Gly148Glu)	SNV Germline	Chr14:87984533	Conflicting classifications of pathogenicity	not specified Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications	CA264711113	rs_749233234	2 SubmittersRCV004527104 RCV005006436
NM_000153.4(GALC):c.836T>G (p.Leu279Ter)	SNV Germline	Chr14:87968407	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter		rs_1566993302	1 SubmittersRCV004585206
NM_000153.4(GALC):c.1282A>G (p.Thr428Ala)	SNV Germline	Chr14:87949901	Conflicting classifications of pathogenicity	not specified Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications		rs_2503372037	3 SubmittersRCV004587774 RCV005006446
NM_000153.4(GALC):c.393G>A (p.Trp131Ter)	SNV Germline	Chr14:87986538	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004596032
NM_000153.4(GALC):c.1243G>A (p.Gly415Arg)	SNV Germline	Chr14:87950667	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004800003
NM_000153.4(GALC):c.1671G>A (p.Trp557Ter)	SNV Germline	Chr14:87941558	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009343
NM_000153.4(GALC):c.1670+2T>A	SNV Germline	Chr14:87945551	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009344
NM_000153.4(GALC):c.1251+1G>C	SNV Germline	Chr14:87950658	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009346
NM_000153.4(GALC):c.646C>T (p.Gln216Ter)	SNV Germline	Chr14:87976464	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009350
NM_000153.4(GALC):c.68C>A (p.Ser23Ter)	SNV Germline	Chr14:87993097	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009352
NM_000153.4(GALC):c.1277G>A (p.Trp426Ter)	SNV Germline	Chr14:87949906	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005193741
NM_000153.4(GALC):c.1251+1G>A	SNV Germline	Chr14:87950658	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005179291
NM_000153.4(GALC):c.188G>C (p.Gly63Ala)	SNV Germline	Chr14:87992977	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV005187208 RCV005230867
NM_000153.4(GALC):c.767G>A (p.Gly256Glu)	SNV Germline	Chr14:87968476	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005250506
NM_000153.4(GALC):c.818C>T (p.Ser273Phe)	SNV Germline	Chr14:87968425	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV005408195
NM_000153.4(GALC):c.1594C>T (p.Gln532Ter)	SNV Germline	Chr14:87945629	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005613767
NM_000153.4(GALC):c.776C>G (p.Ser259Ter)	SNV Germline	Chr14:87968467	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005613783
NM_000153.4(GALC):c.1768A>T (p.Arg590Ter)	SNV Germline	Chr14:87941461	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005613784
NM_000153.4(GALC):c.1989G>A (p.Trp663Ter)	SNV Unknown	Chr14:87934801	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005637697
NM_000153.4(GALC):c.7G>T (p.Glu3Ter)	SNV Unknown	Chr14:87993158	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005637698
NM_000153.4(GALC):c.484G>T (p.Asp162Tyr)	SNV Germline	Chr14:87984492	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005641471
NM_000153.4(GALC):c.328+2T>G	SNV Germline	Chr14:87988142	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005646013
NM_000153.4(GALC):c.1012G>T (p.Glu338Ter)	SNV Germline	Chr14:87965526	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005884214
NM_000153.4(GALC):c.1109A>G (p.Tyr370Cys)	SNV Germline	Chr14:87963436	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006257706
NM_000153.4(GALC):c.909-1G>A	SNV Germline	Chr14:87965630	Likely pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006517357
NM_000153.4(GALC):c.522T>G (p.Tyr174Ter)	SNV Germline	Chr14:87984454	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006585992
NM_000153.4(GALC):c.733A>T (p.Lys245Ter)	SNV Germline	Chr14:87976377	Pathogenic	Galactosylceramide beta-galactosidase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006589970

NM_000153.4(GALC):c.1153G>T (p.Glu385Ter)

SNV
Germline

Chr14:87963392

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA252877

rs_121908010

3 SubmittersRCV000004022

NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)

SNV
Germline

Chr14:87945593

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259863

rs_387906952

11 SubmittersRCV000023588 RCV001270016

NM_000153.4(GALC):c.1796T>G (p.Ile599Ser)

SNV
Germline

Chr14:87941433

Pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA259865

rs_387906953

1 SubmittersRCV000023589

NM_000153.4(GALC):c.1489+1G>A

SNV
Germline

Chr14:87947727

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746361

rs_2139956292

2 SubmittersRCV000023591

NM_000153.4(GALC):c.857G>A (p.Gly286Asp)

SNV
Germline

Chr14:87968386

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259867

rs_199847983

12 SubmittersRCV000023593 RCV000363446

NM_000153.4(GALC):c.953C>G (p.Pro318Arg)

SNV
Germline

Chr14:87965585

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA259869

rs_387906954

3 SubmittersRCV000023594

NM_000153.4(GALC):c.121G>A (p.Gly41Ser)

SNV
Germline

Chr14:87993044

Pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA259871

rs_387906955

1 SubmittersRCV000023595

NM_000153.4(GALC):c.1161+2T>G

SNV
Germline

Chr14:87963382

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA220407

rs_398123175

1 SubmittersRCV000173647

NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)

SNV
Germline

Chr14:87947814

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Galactosylceramide beta-galactosidase deficiency
GALC-related disorder

Criteria Provided
Conflicting Classifications

CA145802

rs_34134328

10 SubmittersRCV000078192 RCV000428446 RCV000538364 RCV003944993

NM_000153.4(GALC):c.334A>G (p.Thr112Ala)

SNV
Germline

Chr14:87986597

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA220408

rs_147313927

29 SubmittersRCV000178047 RCV000256023 RCV000790805

NM_000153.4(GALC):c.349A>G (p.Met117Val)

SNV
Germline

Chr14:87986582

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA220410

rs_145580093

8 SubmittersRCV000078201 RCV000545705

NM_000153.4(GALC):c.583-6T>A

SNV
Germline

Chr14:87982249

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA220412

rs_398123176

5 SubmittersRCV000078204 RCV001237592

NM_000153.4(GALC):c.862T>C (p.Trp288Arg)

SNV
Germline

Chr14:87968381

Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA220413

rs_398123177

2 SubmittersRCV000180100 RCV005614380

NM_000153.4(GALC):c.1592G>A (p.Arg531His)

SNV
Germline

Chr14:87945631

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA234058

rs_200378205

9 SubmittersRCV000153296 RCV000174662

NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)

SNV
Germline

Chr14:87941529

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274200

rs_752537626

15 SubmittersRCV000169344 RCV000723436 RCV001266084

NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)

SNV
Germline

Chr14:87945566

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274392

rs_748573754

8 SubmittersRCV000169525 RCV003137698

NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)

SNV
Germline

Chr14:87945632

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274231

rs_749893889

5 SubmittersRCV000169377 RCV001269916

NM_000153.4(GALC):c.908+1G>A

SNV
Germline

Chr14:87968334

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Abnormality of the nervous system

Criteria Provided
Multiple Submitters
No Conflicts

CA273993

rs_750524447

6 SubmittersRCV000169153 RCV001785485 RCV001814080

NM_000153.4(GALC):c.658C>T (p.Arg220Ter)

SNV
Germline

Chr14:87976452

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274279

rs_766310671

8 SubmittersRCV000169413 RCV000727578

NM_000153.4(GALC):c.599C>A (p.Ser200Ter)

SNV
Germline

Chr14:87982227

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274237

rs_786204618

3 SubmittersRCV000169386 RCV005632280

NM_000153.4(GALC):c.489G>A (p.Trp163Ter)

SNV
Germline

Chr14:87984487

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274053

rs_761550284

6 SubmittersRCV000169212 RCV001785486

NM_000153.4(GALC):c.388G>A (p.Glu130Lys)

SNV
Germline

Chr14:87986543

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273994

rs_374635469

4 SubmittersRCV000169155 RCV002298498

NM_000153.4(GALC):c.169G>A (p.Gly57Ser)

SNV
Germline

Chr14:87992996

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274898

rs_11623

6 SubmittersRCV000173074 RCV000498062

NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)

SNV
Germline

Chr14:87945680

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274999

rs_794727116

5 SubmittersRCV000174663 RCV000723965

NM_000153.4(GALC):c.205C>T (p.Arg69Ter)

SNV
Germline

Chr14:87988514

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275055

rs_771111145

9 SubmittersRCV000175531 RCV000723390

NM_000153.4(GALC):c.2041G>A (p.Val681Met)

SNV
Germline

Chr14:87934749

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350966

rs_200607029

11 SubmittersRCV000206966 RCV001093132 RCV004020301

NM_000153.4(GALC):c.659G>A (p.Arg220Gln)

SNV
Germline

Chr14:87976451

Conflicting classifications of pathogenicity

not specified
Galactosylceramide beta-galactosidase deficiency
Condition: not provided
GALC-related disorder

Criteria Provided
Conflicting Classifications

CA206409

rs_199967869

5 SubmittersRCV000193133 RCV000395974 RCV002261004 RCV003955152

NM_000153.4(GALC):c.331G>A (p.Gly111Ser)

SNV
Germline

Chr14:87986600

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
GALC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277469

rs_756690487

6 SubmittersRCV000195270 RCV001269999 RCV004757158

NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)

SNV
Germline

Chr14:87939915

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7296877

rs_138577661

18 SubmittersRCV000345880 RCV001785518

NM_000153.4(GALC):c.443-12T>G

SNV
Germline

Chr14:87984545

Conflicting classifications of pathogenicity

not specified
Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587191

rs_886038261

4 SubmittersRCV000248594 RCV001120667 RCV006439874

NM_000153.4(GALC):c.18C>G (p.Leu6=)

SNV
Germline

Chr14:87993147

Conflicting classifications of pathogenicity

not specified
Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587193

rs_886038260

4 SubmittersRCV000252321 RCV000279467 RCV003391013

NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)

SNV
Germline

Chr14:87965582

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Galactosylceramide beta-galactosidase deficiency
GALC-related disorder

Criteria Provided
Conflicting Classifications

CA7297190

rs_183105855

21 SubmittersRCV000255537 RCV000507823 RCV000590447 RCV004757183

NM_000153.4(GALC):c.749T>C (p.Ile250Thr)

SNV
Germline

Chr14:87976361

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10588577

rs_886039569

8 SubmittersRCV000256130 RCV000984177

NM_000153.4(GALC):c.908C>T (p.Ser303Phe)

SNV
Germline

Chr14:87968335

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7297219

rs_756352952

13 SubmittersRCV000285229 RCV000522818

NM_000153.4(GALC):c.973A>G (p.Met325Val)

SNV
Germline

Chr14:87965565

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA10603752

rs_772190761

4 SubmittersRCV000345122 RCV001778877 RCV002519072

NM_000153.4(GALC):c.195G>C (p.Gly65=)

SNV
Germline

Chr14:87992970

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10603753

rs_886042057

7 SubmittersRCV000400667 RCV000513714

NM_000153.4(GALC):c.832A>C (p.Thr278Pro)

SNV
Germline

Chr14:87968411

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10604515

rs_886042645

1 SubmittersRCV000398980

NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)

SNV
Germline

Chr14:87941512

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7296934

rs_200219480

4 SubmittersRCV000271252 RCV000812178

NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)

SNV
Germline

Chr14:87945682

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606606

rs_375867319

7 SubmittersRCV000324608 RCV000726405

NM_000153.4(GALC):c.997G>A (p.Gly333Arg)

SNV
Germline

Chr14:87965541

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
GALC-related disorder

Criteria Provided
Conflicting Classifications

CA7297185

rs_190921137

6 SubmittersRCV000288663 RCV002261049 RCV003910185

NM_000153.4(GALC):c.318G>A (p.Gly106=)

SNV
Germline

Chr14:87988154

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA10635492

rs_886050867

2 SubmittersRCV000366170

NM_000153.4(GALC):c.41C>G (p.Ala14Gly)

SNV
Germline

Chr14:87993124

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Intellectual disability
GALC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7297524

rs_373587692

13 SubmittersRCV000338048 RCV000658703 RCV001251992 RCV003930348 RCV006441756

NM_000153.4(GALC):c.2001A>C (p.Gly667=)

SNV
Germline

Chr14:87934789

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7296835

rs_769902280

2 SubmittersRCV000397972

NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)

SNV
Germline

Chr14:87945650

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
GALC-related disorder

Criteria Provided
Conflicting Classifications

CA7296979

rs_146286491

4 SubmittersRCV000262278 RCV003940223

NM_000153.4(GALC):c.28T>C (p.Trp10Arg)

SNV
Germline

Chr14:87993137

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7297530

rs_767913083

5 SubmittersRCV000373901 RCV004021621 RCV006277789

NM_000153.4(GALC):c.195+15G>A

SNV
Germline

Chr14:87992955

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA10645184

rs_748140458

3 SubmittersRCV000271678

NM_000153.4(GALC):c.450A>T (p.Pro150=)

SNV
Germline

Chr14:87984526

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA10646467

rs_886050866

3 SubmittersRCV000390034

NM_000153.4(GALC):c.81C>T (p.Ala27=)

SNV
Germline

Chr14:87993084

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7297509

rs_759433028

3 SubmittersRCV000381404

NM_000153.4(GALC):c.-67T>G

SNV
Germline

Chr14:87993231

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10646480

rs_571945132

7 SubmittersRCV000349528 RCV003314588 RCV005407042

NM_000153.4(GALC):c.628A>T (p.Arg210Ter)

SNV
Germline

Chr14:87976482

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7297285

rs_202131052

11 SubmittersRCV000408648 RCV000514309 RCV004022127

NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)

SNV
Germline

Chr14:87939926

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041690

rs_1057516453

3 SubmittersRCV000411823 RCV000482303

NM_000153.4(GALC):c.1837G>T (p.Gly613Ter)

SNV
Unknown

Chr14:87939979

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA16041692

rs_1057517033

1 SubmittersRCV000410434

NM_000153.4(GALC):c.1670+1G>A

SNV
Germline

Chr14:87945552

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA7296962

rs_749597090

2 SubmittersRCV000409892

NM_000153.4(GALC):c.1586C>T (p.Thr529Met)

SNV
Germline

Chr14:87945637

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
GALC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7296976

rs_200960659

19 SubmittersRCV000410159 RCV001093133 RCV004757227

NM_000153.4(GALC):c.1065G>A (p.Trp355Ter)

SNV
Unknown

Chr14:87963480

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA16041696

rs_1057516270

1 SubmittersRCV000411899

NM_000153.4(GALC):c.952C>G (p.Pro318Ala)

SNV
Germline

Chr14:87965586

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041700

rs_1057516642

4 SubmittersRCV000412229 RCV001782868

NM_000153.4(GALC):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr14:87965592

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA16041701

rs_776368825

2 SubmittersRCV000411117

NM_000153.4(GALC):c.533G>A (p.Trp178Ter)

SNV
Germline

Chr14:87984443

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16041702

rs_968905231

4 SubmittersRCV000410261

NM_000153.4(GALC):c.442+2T>G

SNV
Unknown

Chr14:87986487

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA16041704

rs_1057516632

1 SubmittersRCV000411149

NM_000153.4(GALC):c.415A>T (p.Lys139Ter)

SNV
Unknown

Chr14:87986516

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA16041705

rs_1057516673

1 SubmittersRCV000411282

NM_000153.4(GALC):c.328+1G>T

SNV
Germline

Chr14:87988143

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7297435

rs_779701490

4 SubmittersRCV000409516

NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)

SNV
Germline

Chr14:87993036

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041707

rs_1057516816

5 SubmittersRCV000410107 RCV004719807

NM_000153.4(GALC):c.850G>A (p.Gly284Ser)

SNV
Germline

Chr14:87968393

Pathogenic/Likely pathogenic

19 conditions
Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7297231

rs_377274761

7 SubmittersRCV000415223 RCV000588587 RCV001785610

NM_000153.4(GALC):c.196G>A (p.Ala66Thr)

SNV
Unknown

Chr14:87988523

Likely pathogenic

19 conditions
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA16043485

rs_1057518843

1 SubmittersRCV000415102 RCV001198292

NM_000153.4(GALC):c.-327G>T

SNV
Germline

Chr14:87993491

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7297559

rs_185943390

4 SubmittersRCV000416202 RCV000765183

NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)

SNV
Germline

Chr14:87934803

Conflicting classifications of pathogenicity

Abnormal brain morphology
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA16609532

rs_1060499761

3 SubmittersRCV000454130 RCV000675127

NM_000153.4(GALC):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr14:87986552

Pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7297405

rs_200532368

10 SubmittersRCV000493135 RCV000590611

NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)

SNV
Germline

Chr14:87947749

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA264685589

rs_202135871

4 SubmittersRCV000498864 RCV000668258

NM_000153.4(GALC):c.195+1G>A

SNV
Germline

Chr14:87992969

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390771649

rs_1009872980

4 SubmittersRCV000498766 RCV000666305

NM_000153.4(GALC):c.194G>A (p.Gly65Glu)

SNV
Germline

Chr14:87992971

Pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA390771651

rs_1555384318

1 SubmittersRCV000502588

NM_000153.4(GALC):c.1031C>G (p.Ser344Ter)

SNV
Germline

Chr14:87965507

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390747401

rs_1555381559

1 SubmittersRCV000518907

NM_000153.4(GALC):c.266C>T (p.Pro89Leu)

SNV
Germline

Chr14:87988206

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency
See cases
not specified

Criteria Provided
Conflicting Classifications

CA7297441

rs_201422931

10 SubmittersRCV000522459 RCV000673406 RCV002252151 RCV002307527

NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)

SNV
Germline

Chr14:87950724

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7297101

rs_770485731

9 SubmittersRCV000539298 RCV001266086 RCV001547432

NM_000153.4(GALC):c.525C>T (p.Val175=)

SNV
Germline

Chr14:87984451

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA7297342

rs_181066089

12 SubmittersRCV000591824 RCV001081964 RCV001532905

NM_000153.4(GALC):c.578T>C (p.Ile193Thr)

SNV
Germline

Chr14:87984398

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA390751369

rs_1555383498

3 SubmittersRCV000625867

NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)

SNV
Germline

Chr14:87947823

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746560

rs_1566974586

2 SubmittersRCV000680275

NM_000153.4(GALC):c.1338+1G>C

SNV
Germline

Chr14:87949844

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390746696

rs_1555379669

3 SubmittersRCV000665262

NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)

SNV
Germline

Chr14:87950736

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA390747072

rs_1200769534

3 SubmittersRCV000671847

NM_000153.4(GALC):c.621+5G>A

SNV
Germline

Chr14:87982200

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA658823912

rs_1555383306

2 SubmittersRCV000665486

NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)

SNV
Germline

Chr14:87986544

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390752571

rs_1240965365

3 SubmittersRCV000672034

NM_000153.4(GALC):c.222C>G (p.Tyr74Ter)

SNV
Unknown

Chr14:87988497

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA390753405

rs_959445153

1 SubmittersRCV000669432

NM_000153.4(GALC):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr14:87993162

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA7297538

rs_758685128

1 SubmittersRCV000669874

NM_000153.4(GALC):c.2T>A (p.Met1Lys)

SNV
Unknown

Chr14:87993163

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA7297539

rs_780972896

1 SubmittersRCV000669876

NM_000153.4(GALC):c.1A>G (p.Met1Val)

SNV
Unknown

Chr14:87993164

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA390772190

rs_1555384382

1 SubmittersRCV000671876

NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)

SNV
Germline

Chr14:87934841

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
not specified
See cases

Criteria Provided
Conflicting Classifications

CA390745306

rs_1249991480

9 SubmittersRCV000671889 RCV000995226 RCV001420862 RCV003985407

NM_000153.4(GALC):c.621G>A (p.Lys207=)

SNV
Germline

Chr14:87982205

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA487366335

rs_1428763453

7 SubmittersRCV000664849 RCV001193605 RCV003886427

NM_000153.4(GALC):c.583-1G>C

SNV
Germline

Chr14:87982244

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390750895

rs_1555383310

2 SubmittersRCV000672459

NM_000153.4(GALC):c.195+1G>C

SNV
Unknown

Chr14:87992969

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA390771648

rs_1009872980

1 SubmittersRCV000670477

NM_000153.4(GALC):c.179C>T (p.Ala60Val)

SNV
Germline

Chr14:87992986

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7297492

rs_759110815

3 SubmittersRCV000666126 RCV003480753

NM_000153.4(GALC):c.129C>A (p.Tyr43Ter)

SNV
Germline

Chr14:87993036

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390771780

rs_1057516816

2 SubmittersRCV000673403

NM_000153.4(GALC):c.1912-1G>C

SNV
Unknown

Chr14:87934879

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA390745387

rs_1555377947

1 SubmittersRCV000664672

NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)

SNV
Germline

Chr14:87950723

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA264688612

rs_887930208

4 SubmittersRCV000671990 RCV003479198

NM_000153.4(GALC):c.908+1G>T

SNV
Unknown

Chr14:87968334

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA390747679

rs_750524447

1 SubmittersRCV000665967

NM_000153.4(GALC):c.884A>C (p.Asn295Thr)

SNV
Germline

Chr14:87968359

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA7297224

rs_746922378

2 SubmittersRCV000666177

NM_000153.4(GALC):c.203C>T (p.Ser68Phe)

SNV
Germline

Chr14:87988516

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390753441

rs_1555383892

4 SubmittersRCV000668173

NM_000153.4(GALC):c.1978A>T (p.Lys660Ter)

SNV
Unknown

Chr14:87934812

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA390745241

rs_762034337

1 SubmittersRCV000666184

NM_000153.4(GALC):c.1835-1G>A

SNV
Germline

Chr14:87939982

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390745565

rs_1555378562

3 SubmittersRCV000665460

NM_000153.4(GALC):c.927A>C (p.Leu309Phe)

SNV
Germline

Chr14:87965611

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7297196

rs_758904079

4 SubmittersRCV000664582 RCV005632588

NM_000153.4(GALC):c.916G>A (p.Ala306Thr)

SNV
Germline

Chr14:87965622

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA390747655

rs_1349064845

3 SubmittersRCV000666688

NM_000153.4(GALC):c.621+1G>A

SNV
Germline

Chr14:87982204

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA7297305

rs_759511006

4 SubmittersRCV000664820 RCV005901435

NM_000153.4(GALC):c.49A>G (p.Met17Val)

SNV
Germline

Chr14:87993116

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA7297521

rs_376662045

5 SubmittersRCV000675272 RCV002066986 RCV001779052

NM_000153.4(GALC):c.787G>A (p.Ala263Thr)

SNV
Germline

Chr14:87968456

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA390748135

rs_1308816724

5 SubmittersRCV000697346 RCV003329326

NM_000153.4(GALC):c.592G>A (p.Glu198Lys)

SNV
Germline

Chr14:87982234

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA264710625

rs_909979938

4 SubmittersRCV000727591 RCV001830595

NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter)

SNV
Germline

Chr14:87945558

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390745957

rs_1566972341

1 SubmittersRCV000728985

NM_000153.4(GALC):c.1592G>C (p.Arg531Pro)

SNV
Germline

Chr14:87945631

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390746116

rs_200378205

3 SubmittersRCV000761503 RCV005438028

NM_000153.4(GALC):c.1671-1G>A

SNV
Germline

Chr14:87941559

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390745933

rs_1182103005

4 SubmittersRCV000779148 RCV005092317

NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)

SNV
Germline

Chr14:87993029

Pathogenic

Galactosylceramide beta-galactosidase deficiency
GALC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7297497

rs_751975987

6 SubmittersRCV000781395 RCV004757281

NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)

SNV
Germline

Chr14:87965534

Pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7297183

rs_757407613

3 SubmittersRCV000806470 RCV002279541

NM_000153.4(GALC):c.560A>T (p.Asp187Val)

SNV
Germline

Chr14:87984416

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA264711077

rs_997021099

6 SubmittersRCV000796371 RCV003144601

NM_000153.4(GALC):c.453G>A (p.Trp151Ter)

SNV
Germline

Chr14:87984523

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7297355

rs_745620101

4 SubmittersRCV000795746 RCV003141780

NM_000153.4(GALC):c.235C>T (p.Arg79Cys)

SNV
Germline

Chr14:87988484

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7297457

rs_73312829

7 SubmittersRCV000811717 RCV003132077 RCV002538105 RCV002282375

NM_000153.4(GALC):c.443-2A>G

SNV
Germline

Chr14:87984535

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390751979

rs_1595236714

1 SubmittersRCV000802627

NM_000153.4(GALC):c.1272G>A (p.Gln424=)

SNV
Germline

Chr14:87949911

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7297067

rs_376675180

4 SubmittersRCV000873073 RCV002064720

NM_000153.4(GALC):c.530C>A (p.Thr177Asn)

SNV
Germline

Chr14:87984446

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7297340

rs_115869593

2 SubmittersRCV000872010 RCV004792562

NM_000153.4(GALC):c.120C>T (p.Gly40=)

SNV
Germline

Chr14:87993045

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA265469448

rs_532800656

4 SubmittersRCV000957480 RCV006442247

NM_000153.4(GALC):c.1690T>G (p.Cys564Gly)

SNV
Unknown

Chr14:87941539

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745889

rs_1595190129

1 SubmittersRCV000989250

NM_000153.4(GALC):c.884A>T (p.Asn295Ile)

SNV
Germline

Chr14:87968359

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA264703903

rs_746922378

5 SubmittersRCV000989251

NM_000153.4(GALC):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr14:87968375

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7297226

rs_780750448

7 SubmittersRCV000991305 RCV001784520 RCV002550623

NM_000153.4(GALC):c.869G>A (p.Arg290His)

SNV
Germline

Chr14:87968374

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA264703931

rs_746806459

4 SubmittersRCV001030028 RCV006455343

NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)

SNV
Germline

Chr14:87934788

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390745190

rs_1884498480

2 SubmittersRCV001062997

NM_000153.4(GALC):c.1898C>T (p.Thr633Met)

SNV
Germline

Chr14:87939918

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7296881

rs_766762599

4 SubmittersRCV001064405

NM_000153.4(GALC):c.1793G>A (p.Trp598Ter)

SNV
Germline

Chr14:87941436

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745666

rs_1884845930

1 SubmittersRCV001038602

NM_000153.4(GALC):c.860G>A (p.Cys287Tyr)

SNV
Germline

Chr14:87968383

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747835

rs_769433488

1 SubmittersRCV001061371

NM_000153.4(GALC):c.443-1G>C

SNV
Germline

Chr14:87984534

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390751977

rs_1886890531

1 SubmittersRCV001070327

NM_000153.4(GALC):c.264+1G>A

SNV
Germline

Chr14:87988454

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390753311

rs_1458925593

3 SubmittersRCV001051364 RCV005411646

NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)

SNV
Germline

Chr14:87934848

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA390745323

rs_1884501856

4 SubmittersRCV001090091 RCV003238303

NM_000153.4(GALC):c.391T>C (p.Trp131Arg)

SNV
Germline

Chr14:87986540

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7297399

rs_746507078

4 SubmittersRCV001093135 RCV001873460

NM_000153.4(GALC):c.830G>A (p.Ser277Asn)

SNV
Germline

Chr14:87968413

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Fabry disease

Criteria Provided
Multiple Submitters
No Conflicts

CA390747959

rs_1886145312

3 SubmittersRCV001250794 RCV004545052

NM_000153.4(GALC):c.1443A>G (p.Pro481=)

SNV
Germline

Chr14:87947774

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA487355628

rs_1359281521

2 SubmittersRCV001115669

NM_000153.4(GALC):c.708C>T (p.Ser236=)

SNV
Germline

Chr14:87976402

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
GALC-related disorder

Criteria Provided
Conflicting Classifications

CA7297271

rs_773666802

3 SubmittersRCV001118734 RCV003906221

NM_000153.4(GALC):c.136G>C (p.Asp46His)

SNV
Germline

Chr14:87993029

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7297498

rs_751975987

2 SubmittersRCV001115752

NM_000153.4(GALC):c.673G>A (p.Ala225Thr)

SNV
Germline

Chr14:87976437

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390749592

rs_1436074042

7 SubmittersRCV001195147 RCV001644930 RCV001508371

NM_000153.4(GALC):c.442+1G>A

SNV
Unknown

Chr14:87986488

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390752299

rs_1886976159

1 SubmittersRCV001199004

NM_000153.4(GALC):c.863G>A (p.Trp288Ter)

SNV
Germline

Chr14:87968380

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA264703972

rs_372621124

1 SubmittersRCV001209816

NM_000153.4(GALC):c.674C>A (p.Ala225Glu)

SNV
Germline

Chr14:87976436

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7297279

rs_373077659

4 SubmittersRCV001237593

NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)

SNV
Germline

Chr14:87934856

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA7296844

rs_780593419

1 SubmittersRCV001269990

NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)

SNV
Germline

Chr14:87963438

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390747226

rs_1885895082

1 SubmittersRCV001269902

NM_000153.4(GALC):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr14:87965556

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390747510

rs_1337518083

3 SubmittersRCV001269502 RCV001390629

NM_000153.4(GALC):c.764C>G (p.Pro255Arg)

SNV
Germline

Chr14:87968479

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390748225

rs_1886148366

1 SubmittersRCV001269896

NM_000153.4(GALC):c.680A>G (p.Asp227Gly)

SNV
Germline

Chr14:87976430

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA390749561

rs_1886495923

4 SubmittersRCV001278165 RCV004690048 RCV003130237

NM_000153.4(GALC):c.65G>A (p.Gly22Asp)

SNV
Germline

Chr14:87993100

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7297514

rs_372285275

4 SubmittersRCV001278963 RCV003481045 RCV004035479

NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)

SNV
Germline

Chr14:87941476

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390745752

rs_2503340730

2 SubmittersRCV001281624 RCV002246275

NM_000153.4(GALC):c.1339-1G>T

SNV
Germline

Chr14:87947879

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746686

rs_1885138493

1 SubmittersRCV001290963

NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)

SNV
Germline

Chr14:87945589

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA390746026

rs_1289015582

3 SubmittersRCV001326439 RCV001760417

NM_000153.4(GALC):c.797C>T (p.Thr266Ile)

SNV
Unknown

Chr14:87968446

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA390748093

rs_867226993

1 SubmittersRCV001647255

NM_000153.4(GALC):c.821A>C (p.Glu274Ala)

SNV
Germline

Chr14:87968422

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390748003

rs_2140001660

2 SubmittersRCV001367963

NM_000153.4(GALC):c.750A>G (p.Ile250Met)

SNV
Germline

Chr14:87976360

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA390749252

rs_2140016054

2 SubmittersRCV001361588

NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)

SNV
Germline

Chr14:87934734

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390745072

rs_1406731723

4 SubmittersRCV001377987 RCV004762137

NM_000153.4(GALC):c.1252-2A>G

SNV
Germline

Chr14:87949933

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746896

rs_1166863449

1 SubmittersRCV001379734

NM_000153.4(GALC):c.1033+1G>A

SNV
Germline

Chr14:87965504

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747397

rs_2139996044

2 SubmittersRCV001378716

NM_000153.4(GALC):c.752+1G>A

SNV
Germline

Chr14:87976357

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390749239

rs_2140016050

1 SubmittersRCV001378544

NM_000153.4(GALC):c.582+1G>A

SNV
Germline

Chr14:87984393

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
Acute myeloid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7297331

rs_750881596

5 SubmittersRCV001378267 RCV003490236 RCV005912601

NM_000153.4(GALC):c.349A>C (p.Met117Leu)

SNV
Germline

Chr14:87986582

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390752765

rs_145580093

3 SubmittersRCV001377131 RCV003481102

NM_000153.4(GALC):c.200C>T (p.Thr67Ile)

SNV
Germline

Chr14:87988519

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390753447

rs_1478697086

2 SubmittersRCV001379158 RCV004526120

NM_000153.4(GALC):c.37C>T (p.Arg13Ter)

SNV
Germline

Chr14:87993128

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390772040

rs_1173602413

1 SubmittersRCV001385409

NM_000153.4(GALC):c.739G>T (p.Val247Phe)

SNV
Germline

Chr14:87976371

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390749292

rs_2140016089

1 SubmittersRCV001391225

NM_000153.4(GALC):c.1803A>G (p.Ala601=)

SNV
Germline

Chr14:87941426

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided
GALC-related disorder

Criteria Provided
Conflicting Classifications

CA7296921

rs_372465848

3 SubmittersRCV001456200 RCV002276740 RCV003900567

NM_000153.4(GALC):c.196-9T>C

SNV
Germline

Chr14:87988532

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7297464

rs_776907825

2 SubmittersRCV001461459 RCV003238371

NM_000153.4(GALC):c.332G>A (p.Gly111Asp)

SNV
Germline

Chr14:87986599

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7297413

rs_746487628

5 SubmittersRCV001508372 RCV001865941

NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)

SNV
Germline

Chr14:87939958

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7296890

rs_779864190

3 SubmittersRCV001581583 RCV001827515

NM_000153.4(GALC):c.396G>A (p.Trp132Ter)

SNV
Germline

Chr14:87986535

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390752515

rs_2139754775

2 SubmittersRCV001730058

NM_000153.4(GALC):c.1251T>C (p.Phe417=)

SNV
Germline

Chr14:87950659

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

CA264688579

rs_200605515

3 SubmittersRCV001730447 RCV005614668

NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)

SNV
Germline

Chr14:87947817

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA390746550

rs_750431739

2 SubmittersRCV001775349

NM_000153.4(GALC):c.622-1G>T

SNV
Germline

Chr14:87976489

Pathogenic/Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390749842

rs_1886499951

3 SubmittersRCV001785866 RCV002034564

NM_000153.4(GALC):c.169G>C (p.Gly57Arg)

SNV
Germline

Chr14:87992996

Conflicting classifications of pathogenicity

Condition: not provided
Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA265469440

rs_11623

3 SubmittersRCV001782165 RCV003502609 RCV006269474

NM_000153.4(GALC):c.1842G>A (p.Trp614Ter)

SNV
Germline

Chr14:87939974

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390745548

rs_1884767890

1 SubmittersRCV001782166

NM_000153.4(GALC):c.1913G>T (p.Gly638Val)

SNV
Germline

Chr14:87934877

Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390745381

rs_1162671660

3 SubmittersRCV001782167 RCV002034592

NM_000153.4(GALC):c.1736C>A (p.Ala579Glu)

SNV
Germline

Chr14:87941493

Likely pathogenic

Condition: not provided
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390745792

rs_1423625765

2 SubmittersRCV001782168 RCV002544261

NM_000153.4(GALC):c.1252-1G>C

SNV
Germline

Chr14:87949932

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390746893

rs_2139961690

2 SubmittersRCV001806306

NM_000153.4(GALC):c.1781G>T (p.Gly594Val)

SNV
Germline

Chr14:87941448

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745692

rs_2139941367

1 SubmittersRCV001806381

NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)

SNV
Germline

Chr14:87950666

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA390746917

rs_1365128831

2 SubmittersRCV001810538

NM_000153.4(GALC):c.1400C>A (p.Thr467Asn)

SNV
Germline

Chr14:87947817

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA7297021

rs_750431739

2 SubmittersRCV001825318

NM_000153.4(GALC):c.329-1G>A

SNV
Germline

Chr14:87986603

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390752855

rs_1365632054

1 SubmittersRCV001989530

NM_000153.4(GALC):c.764C>A (p.Pro255His)

SNV
Germline

Chr14:87968479

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390748227

rs_1886148366

1 SubmittersRCV002018966

NM_000153.4(GALC):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr14:87949913

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746847

rs_2139961653

1 SubmittersRCV001957344

NM_000153.4(GALC):c.175G>A (p.Gly59Ser)

SNV
Germline

Chr14:87992990

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7297493

rs_764757647

3 SubmittersRCV001990721

NM_000153.4(GALC):c.328+1G>A

SNV
Germline

Chr14:87988143

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390753160

rs_779701490

2 SubmittersRCV001996482

NM_000153.4(GALC):c.1898C>G (p.Thr633Arg)

SNV
Germline

Chr14:87939918

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745424

rs_766762599

1 SubmittersRCV001996330

NM_000153.4(GALC):c.169G>T (p.Gly57Cys)

SNV
Germline

Chr14:87992996

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390771699

rs_11623

1 SubmittersRCV002050063

NM_000153.4(GALC):c.940T>C (p.Tyr314His)

SNV
Germline

Chr14:87965598

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390747600

rs_2139996434

2 SubmittersRCV001970934 RCV006458832

NM_000153.4(GALC):c.170G>T (p.Gly57Val)

SNV
Germline

Chr14:87992995

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390771696

rs_1217139658

1 SubmittersRCV001969662

NM_000153.4(GALC):c.967G>A (p.Gly323Arg)

SNV
Germline

Chr14:87965571

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747543

rs_1472207768

1 SubmittersRCV001972681

NM_000153.4(GALC):c.264+3A>C

SNV
Germline

Chr14:87988452

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA2573150202

rs_1567014543

1 SubmittersRCV001969329

NM_000153.4(GALC):c.265-2A>G

SNV
Germline

Chr14:87988209

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7297442

rs_199710405

3 SubmittersRCV001916717

NM_000153.4(GALC):c.1338+1G>T

SNV
Germline

Chr14:87949844

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746695

rs_1555379669

1 SubmittersRCV001976360

NM_000153.4(GALC):c.1757G>A (p.Gly586Asp)

SNV
Germline

Chr14:87941472

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745744

rs_2139941444

1 SubmittersRCV002025554

NM_000153.4(GALC):c.2002A>G (p.Thr668Ala)

SNV
Germline

Chr14:87934788

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745189

rs_1884498480

1 SubmittersRCV002022185

NM_000153.4(GALC):c.29G>A (p.Trp10Ter)

SNV
Germline

Chr14:87993136

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390772079

rs_2139769937

1 SubmittersRCV001957238

NM_000153.4(GALC):c.199A>C (p.Thr67Pro)

SNV
Germline

Chr14:87988520

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390753450

rs_2139759522

1 SubmittersRCV001990996

NM_000153.4(GALC):c.1276T>G (p.Trp426Gly)

SNV
Germline

Chr14:87949907

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746833

rs_2139961618

1 SubmittersRCV001995690

NM_000153.4(GALC):c.1670+1G>T

SNV
Germline

Chr14:87945552

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745940

rs_749597090

1 SubmittersRCV002009679

NM_000153.4(GALC):c.1592G>T (p.Arg531Leu)

SNV
Germline

Chr14:87945631

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746115

rs_200378205

1 SubmittersRCV002037226

NM_000153.4(GALC):c.967G>T (p.Gly323Trp)

SNV
Germline

Chr14:87965571

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390747541

rs_1472207768

2 SubmittersRCV001883164

NM_000153.4(GALC):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr14:87984471

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390751710

rs_2139749699

1 SubmittersRCV001913382

NM_000153.4(GALC):c.1291G>T (p.Gly431Ter)

SNV
Germline

Chr14:87949892

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746797

rs_2139961576

1 SubmittersRCV001910300

NM_000153.4(GALC):c.461C>A (p.Pro154His)

SNV
Germline

Chr14:87984515

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7297353

rs_758557526

2 SubmittersRCV001953581 RCV003481220

NM_000153.4(GALC):c.329-2A>G

SNV
Germline

Chr14:87986604

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390752857

rs_2139755114

1 SubmittersRCV002020771

NM_000153.4(GALC):c.941A>G (p.Tyr314Cys)

SNV
Germline

Chr14:87965597

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747597

rs_1595215209

1 SubmittersRCV001956487

NM_000153.4(GALC):c.349A>T (p.Met117Leu)

SNV
Germline

Chr14:87986582

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390752762

rs_145580093

3 SubmittersRCV001949562

NM_000153.4(GALC):c.1829A>C (p.Asp610Ala)

SNV
Germline

Chr14:87941400

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA7296917

rs_754732860

1 SubmittersRCV001986266

NM_000153.4(GALC):c.1027G>T (p.Val343Leu)

SNV
Germline

Chr14:87965511

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7297179

rs_753217734

2 SubmittersRCV002215540 RCV003491031

NM_000153.4(GALC):c.1896C>G (p.Leu632=)

SNV
Germline

Chr14:87939920

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA487355290

rs_1884764241

2 SubmittersRCV002148441 RCV003134394

NM_000153.4(GALC):c.2054G>A (p.Arg685His)

SNV
Germline

Chr14:87934736

Conflicting classifications of pathogenicity

Inborn genetic diseases
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7296823

rs_529469325

2 SubmittersRCV003025387 RCV002115157

NM_000153.4(GALC):c.193G>T (p.Gly65Trp)

SNV
Germline

Chr14:87992972

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390771653

rs_1887277350

1 SubmittersRCV002223160

NM_000153.4(GALC):c.1754G>A (p.Gly585Asp)

SNV
Germline

Chr14:87941475

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA7296929

rs_776098499

2 SubmittersRCV002249049

NM_000153.4(GALC):c.896G>A (p.Gly299Asp)

SNV
Germline

Chr14:87968347

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA390747710

rs_1566993126

4 SubmittersRCV002249050 RCV002252778 RCV005574916

NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)

SNV
Germline

Chr14:87934838

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745301

rs_2503316638

1 SubmittersRCV002283388

NM_000153.4(GALC):c.1834+1G>A

SNV
Germline

Chr14:87941394

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390745574

rs_1884843673

3 SubmittersRCV002283423

NM_000153.4(GALC):c.957T>A (p.Tyr319Ter)

SNV
Unknown

Chr14:87965581

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747565

rs_1158171614

1 SubmittersRCV002309677

NM_000153.4(GALC):c.1168A>T (p.Lys390Ter)

SNV
Unknown

Chr14:87950742

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747087

rs_2139963715

1 SubmittersRCV002309932

NM_000153.4(GALC):c.1031C>A (p.Ser344Ter)

SNV
Unknown

Chr14:87965507

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747400

rs_1555381559

1 SubmittersRCV002306922

NM_000153.4(GALC):c.1240A>T (p.Lys414Ter)

SNV
Unknown

Chr14:87950670

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746927

rs_1885265714

1 SubmittersRCV002307215

NM_000153.4(GALC):c.1420A>T (p.Lys474Ter)

SNV
Unknown

Chr14:87947797

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746518

rs_2503362968

1 SubmittersRCV002310137

NM_000153.4(GALC):c.403A>T (p.Lys135Ter)

SNV
Unknown

Chr14:87986528

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390752472

rs_2503518940

1 SubmittersRCV002310205

NM_000153.4(GALC):c.1671-2A>G

SNV
Germline

Chr14:87941560

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745934

rs_1400447609

1 SubmittersRCV003062647

NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)

SNV
Germline

Chr14:87963394

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA390747138

rs_1376496659

3 SubmittersRCV003062648 RCV005861310

NM_000153.4(GALC):c.1034-2A>G

SNV
Germline

Chr14:87963513

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390747390

rs_2503431601

3 SubmittersRCV003058447 RCV004697249

NM_000153.4(GALC):c.392G>A (p.Trp131Ter)

SNV
Germline

Chr14:87986539

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390752550

rs_2503519059

1 SubmittersRCV003041211

NM_000153.4(GALC):c.246A>G (p.Ile82Met)

SNV
Germline

Chr14:87988473

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390753357

rs_1887063180

2 SubmittersRCV003058448

NM_000153.4(GALC):c.236G>A (p.Arg79His)

SNV
Germline

Chr14:87988483

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7297456

rs_370117160

4 SubmittersRCV003064235 RCV003064234 RCV003491207

NM_000153.4(GALC):c.484G>A (p.Asp162Asn)

SNV
Germline

Chr14:87984492

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7297346

rs_534598133

2 SubmittersRCV003074729 RCV006363067

NM_000153.4(GALC):c.2042T>C (p.Val681Ala)

SNV
Germline

Chr14:87934748

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA7296827

rs_768745262

2 SubmittersRCV003092374 RCV006460433

NM_000153.4(GALC):c.757C>T (p.His253Tyr)

SNV
Germline

Chr14:87968486

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA7297243

rs_781003161

2 SubmittersRCV003061603 RCV003331429

NM_000153.4(GALC):c.1318A>T (p.Lys440Ter)

SNV
Germline

Chr14:87949865

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746743

rs_2503371759

1 SubmittersRCV002615973

NM_000153.4(GALC):c.1251+5G>C

SNV
Germline

Chr14:87950654

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA7297089

rs_755870379

1 SubmittersRCV002637386

NM_000153.4(GALC):c.851G>A (p.Gly284Asp)

SNV
Germline

Chr14:87968392

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747862

rs_1397152875

1 SubmittersRCV003106266

NM_000153.4(GALC):c.1321C>T (p.Gln441Ter)

SNV
Germline

Chr14:87949862

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746735

rs_1885230326

1 SubmittersRCV002617150

NM_000153.4(GALC):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr14:87976455

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA390749660

rs_2503477272

2 SubmittersRCV002618045

NM_000153.4(GALC):c.1911+4A>G

SNV
Germline

Chr14:87939901

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2153352682

rs_1884762471

2 SubmittersRCV002667584 RCV006442821

NM_000153.4(GALC):c.583-2A>G

SNV
Germline

Chr14:87982245

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390750902

rs_1217317914

1 SubmittersRCV002750290

NM_000153.4(GALC):c.1068T>G (p.Tyr356Ter)

SNV
Germline

Chr14:87963477

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747314

rs_1349405657

1 SubmittersRCV002761005

NM_000153.4(GALC):c.236G>C (p.Arg79Pro)

SNV
Germline

Chr14:87988483

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390753377

rs_370117160

2 SubmittersRCV002820724 RCV004700838

NM_000153.4(GALC):c.195+2T>C

SNV
Germline

Chr14:87992968

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390771646

rs_954071713

1 SubmittersRCV002828314

NM_000153.4(GALC):c.593A>C (p.Glu198Ala)

SNV
Germline

Chr14:87982233

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390750842

rs_2503500771

1 SubmittersRCV002863814

NM_000153.4(GALC):c.1162-1G>A

SNV
Germline

Chr14:87950749

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747106

rs_2503376595

1 SubmittersRCV002876897

NM_000153.4(GALC):c.582+2T>C

SNV
Germline

Chr14:87984392

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390751346

rs_2503509293

1 SubmittersRCV002880461

NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)

SNV
Germline

Chr14:87947767

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390746452

rs_1885132066

2 SubmittersRCV003009600 RCV003146726

NM_000153.4(GALC):c.1489+1G>C

SNV
Germline

Chr14:87947727

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746360

rs_2139956292

1 SubmittersRCV003018245

NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)

SNV
Germline

Chr14:87947748

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390746413

rs_2503362421

2 SubmittersRCV003033597 RCV004526218

NM_000153.4(GALC):c.868C>A (p.Arg290Ser)

SNV
Germline

Chr14:87968375

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747796

rs_780750448

1 SubmittersRCV003027002

NM_000153.4(GALC):c.395G>A (p.Trp132Ter)

SNV
Germline

Chr14:87986536

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390752517

rs_2503519040

1 SubmittersRCV003019873

NM_000153.4(GALC):c.389A>G (p.Glu130Gly)

SNV
Germline

Chr14:87986542

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390752564

rs_2503519099

1 SubmittersRCV003039552

NM_000153.4(GALC):c.1664A>G (p.Tyr555Cys)

SNV
Germline

Chr14:87945559

Conflicting classifications of pathogenicity

Inborn genetic diseases
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA390745959

rs_1428571249

2 SubmittersRCV002896359 RCV005412497

NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)

SNV
Germline

Chr14:87941544

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745901

rs_398607

1 SubmittersRCV003229548

NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)

SNV
Germline

Chr14:87939934

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390745461

rs_2503334646

1 SubmittersRCV003229550

NM_000153.4(GALC):c.1623G>A (p.Trp541Ter)

SNV
Unknown

Chr14:87945600

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746049

rs_2503354229

1 SubmittersRCV003246684

NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)

SNV
Germline

Chr14:87963480

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390747320

rs_1057516270

2 SubmittersRCV005061265 RCV006460582

NM_000153.4(GALC):c.911C>T (p.Thr304Ile)

SNV
Unknown

Chr14:87965627

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747662

rs_2503440863

1 SubmittersRCV003459831

NM_000153.4(GALC):c.824A>G (p.Asp275Gly)

SNV
Germline

Chr14:87968419

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747987

rs_1886145706

1 SubmittersRCV003324308

NM_000153.4(GALC):c.953C>T (p.Pro318Leu)

SNV
Germline

Chr14:87965585

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747571

rs_387906954

2 SubmittersRCV003328087

NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)

SNV
Germline

Chr14:87934787

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390745186

rs_759515663

1 SubmittersRCV003334168

NM_000153.4(GALC):c.264+2T>G

SNV
Germline

Chr14:87988453

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390753306

rs_1235473172

1 SubmittersRCV003448829

NM_000153.4(GALC):c.170G>A (p.Gly57Asp)

SNV
Germline

Chr14:87992995

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390771698

rs_1217139658

2 SubmittersRCV003502803

NM_000153.4(GALC):c.1507G>T (p.Glu503Ter)

SNV
Germline

Chr14:87945716

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390746305

rs_1349512789

1 SubmittersRCV003503482

NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)

SNV
Germline

Chr14:87963394

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747139

rs_1376496659

1 SubmittersRCV003503701

NM_000153.4(GALC):c.175G>C (p.Gly59Arg)

SNV
Germline

Chr14:87992990

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390771689

rs_764757647

2 SubmittersRCV003502012 RCV004697301

NM_000153.4(GALC):c.316G>A (p.Gly106Arg)

SNV
Germline

Chr14:87988156

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA7297436

rs_749615956

1 SubmittersRCV003502183

NM_000153.4(GALC):c.11G>A (p.Trp4Ter)

SNV
Germline

Chr14:87993154

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390772160

rs_2503550047

1 SubmittersRCV003502343

NM_000153.4(GALC):c.175G>T (p.Gly59Cys)

SNV
Germline

Chr14:87992990

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA265469438

rs_764757647

1 SubmittersRCV003502456

NM_000153.4(GALC):c.582+1G>C

SNV
Germline

Chr14:87984393

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390751351

rs_750881596

1 SubmittersRCV003503340

NM_000153.4(GALC):c.200C>A (p.Thr67Asn)

SNV
Germline

Chr14:87988519

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390753449

rs_1478697086

1 SubmittersRCV003503974

NM_000153.4(GALC):c.2042T>G (p.Val681Gly)

SNV
Germline

Chr14:87934748

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390745095

rs_768745262

2 SubmittersRCV003609596 RCV006454455

NM_000153.4(GALC):c.264+2T>C

SNV
Germline

Chr14:87988453

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390753308

rs_1235473172

1 SubmittersRCV003610092

NM_000153.4(GALC):c.1102G>T (p.Gly368Ter)

SNV
Germline

Chr14:87963443

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747235

rs_1410766358

1 SubmittersRCV003610435

NM_000153.4(GALC):c.1034-1G>C

SNV
Germline

Chr14:87963512

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA264701269

rs_955287913

2 SubmittersRCV003610468

NM_000153.4(GALC):c.255T>A (p.Tyr85Ter)

SNV
Germline

Chr14:87988464

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390753335

rs_2503528053

1 SubmittersRCV003608998

NM_000153.4(GALC):c.856G>C (p.Gly286Arg)

SNV
Germline

Chr14:87968387

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747849

rs_2503449824

1 SubmittersRCV003609014

NM_000153.4(GALC):c.822A>C (p.Glu274Asp)

SNV
Germline

Chr14:87968421

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390748000

rs_750448899

1 SubmittersRCV003609072

NM_000153.4(GALC):c.1161+2T>A

SNV
Germline

Chr14:87963382

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747112

rs_398123175

1 SubmittersRCV003609139

NM_000153.4(GALC):c.166G>C (p.Asp56His)

SNV
Germline

Chr14:87992999

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390771706

rs_906992891

1 SubmittersRCV003837838

NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)

SNV
Germline

Chr14:87939957

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA390745508

rs_1210612295

2 SubmittersRCV003836277 RCV004801411

NM_000153.4(GALC):c.488G>A (p.Trp163Ter)

SNV
Germline

Chr14:87984488

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390751785

rs_1182199981

1 SubmittersRCV003858528

NM_000153.4(GALC):c.388G>C (p.Glu130Gln)

SNV
Germline

Chr14:87986543

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA7297400

rs_374635469

1 SubmittersRCV003873939

NM_000153.4(GALC):c.1162-2A>G

SNV
Germline

Chr14:87950750

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

CA390747109

rs_1168273921

1 SubmittersRCV004018236

NM_000153.4(GALC):c.443G>A (p.Gly148Glu)

SNV
Germline

Chr14:87984533

Conflicting classifications of pathogenicity

not specified
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

CA264711113

rs_749233234

2 SubmittersRCV004527104 RCV005006436

NM_000153.4(GALC):c.836T>G (p.Leu279Ter)

SNV
Germline

Chr14:87968407

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

rs_1566993302

1 SubmittersRCV004585206

NM_000153.4(GALC):c.1282A>G (p.Thr428Ala)

SNV
Germline

Chr14:87949901

Conflicting classifications of pathogenicity

not specified
Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

rs_2503372037

3 SubmittersRCV004587774 RCV005006446

NM_000153.4(GALC):c.393G>A (p.Trp131Ter)

SNV
Germline

Chr14:87986538

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004596032

NM_000153.4(GALC):c.1243G>A (p.Gly415Arg)

SNV
Germline

Chr14:87950667

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004800003

NM_000153.4(GALC):c.1671G>A (p.Trp557Ter)

SNV
Germline

Chr14:87941558

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009343

NM_000153.4(GALC):c.1670+2T>A

SNV
Germline

Chr14:87945551

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009344

NM_000153.4(GALC):c.1251+1G>C

SNV
Germline

Chr14:87950658

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009346

NM_000153.4(GALC):c.646C>T (p.Gln216Ter)

SNV
Germline

Chr14:87976464

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009350

NM_000153.4(GALC):c.68C>A (p.Ser23Ter)

SNV
Germline

Chr14:87993097

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009352

NM_000153.4(GALC):c.1277G>A (p.Trp426Ter)

SNV
Germline

Chr14:87949906

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005193741

NM_000153.4(GALC):c.1251+1G>A

SNV
Germline

Chr14:87950658

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005179291

NM_000153.4(GALC):c.188G>C (p.Gly63Ala)

SNV
Germline

Chr14:87992977

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005187208 RCV005230867

NM_000153.4(GALC):c.767G>A (p.Gly256Glu)

SNV
Germline

Chr14:87968476

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005250506

NM_000153.4(GALC):c.818C>T (p.Ser273Phe)

SNV
Germline

Chr14:87968425

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005408195

NM_000153.4(GALC):c.1594C>T (p.Gln532Ter)

SNV
Germline

Chr14:87945629

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005613767

NM_000153.4(GALC):c.776C>G (p.Ser259Ter)

SNV
Germline

Chr14:87968467

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005613783

NM_000153.4(GALC):c.1768A>T (p.Arg590Ter)

SNV
Germline

Chr14:87941461

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005613784

NM_000153.4(GALC):c.1989G>A (p.Trp663Ter)

SNV
Unknown

Chr14:87934801

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005637697

NM_000153.4(GALC):c.7G>T (p.Glu3Ter)

SNV
Unknown

Chr14:87993158

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005637698

NM_000153.4(GALC):c.484G>T (p.Asp162Tyr)

SNV
Germline

Chr14:87984492

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005641471

NM_000153.4(GALC):c.328+2T>G

SNV
Germline

Chr14:87988142

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646013

NM_000153.4(GALC):c.1012G>T (p.Glu338Ter)

SNV
Germline

Chr14:87965526

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005884214

NM_000153.4(GALC):c.1109A>G (p.Tyr370Cys)

SNV
Germline

Chr14:87963436

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006257706

NM_000153.4(GALC):c.909-1G>A

SNV
Germline

Chr14:87965630

Likely pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006517357

NM_000153.4(GALC):c.522T>G (p.Tyr174Ter)

SNV
Germline

Chr14:87984454

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006585992

NM_000153.4(GALC):c.733A>T (p.Lys245Ter)

SNV
Germline

Chr14:87976377

Pathogenic

Galactosylceramide beta-galactosidase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006589970