ClinVar for MedGen (Select 44131) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25796521.	NM_000153.4(GALC):c.953C>T (p.Pro318Leu) GRCh37: Chr14:88431929 GRCh38: Chr14:87965585	GALC	P107L, P202L, P262L, P292L, P295L, P318L	Galactosylceramide beta-galactosidase deficiency	not provided	no assertion provided
Select item 25772312.	NM_000153.4(GALC):c.824A>G (p.Asp275Gly) GRCh37: Chr14:88434763 GRCh38: Chr14:87968419	GALC	D249G, D252G, D275G	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (Jul 20, 2023)	criteria provided, single submitter
Select item 25705903.	NM_000153.4(GALC):c.1623G>A (p.Trp541Ter) GRCh37: Chr14:88411944 GRCh38: Chr14:87945600	GALC	W541, W518, W515*	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (Jul 5, 2023)	criteria provided, single submitter
Select item 25028954.	NM_000153.4(GALC):c.1882A>T (p.Lys628Ter) GRCh37: Chr14:88406278 GRCh38: Chr14:87939934	GALC	K602, K605, K628*	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 25028935.	NM_000153.4(GALC):c.1685T>A (p.Ile562Lys) GRCh37: Chr14:88407888 GRCh38: Chr14:87941544	GALC	I536K, I539K, I562K	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 24983286.	NM_000153.4(GALC):c.1878_1894del (p.Lys627fs) GRCh37: Chr14:88406266-88406282 GRCh38: Chr14:87939922-87939938	GALC	K601fs, K604fs, K627fs	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 24444247.	NM_000153.4(GALC):c.815C>T (p.Ser272Phe) GRCh37: Chr14:88434772 GRCh38: Chr14:87968428	GALC	S246F, S249F, S272F	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24224818.	NC_000014.8:g.(?_88434669)_(88434844_?)del GRCh37: Chr14:88434669-88434844	GALC		Galactosylceramide beta-galactosidase deficiency	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 24224799.	NC_000014.8:g.(?_88431839)_(88434844_?)del GRCh37: Chr14:88431839-88434844	GALC		Galactosylceramide beta-galactosidase deficiency	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 242247810.	NC_000014.8:g.(?_88401064)_(88406335_?)del GRCh37: Chr14:88401064-88406335	GALC		Galactosylceramide beta-galactosidase deficiency	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 242115111.	NM_000153.4(GALC):c.1744G>A (p.Val582Ile) GRCh37: Chr14:88407829 GRCh38: Chr14:87941485	GALC	V556I, V559I, V582I	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 241905312.	NM_000153.4(GALC):c.1396C>A (p.Leu466Ile) GRCh37: Chr14:88414165 GRCh38: Chr14:87947821	GALC	L440I, L443I, L466I	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 241892913.	NM_000153.4(GALC):c.1364C>T (p.Thr455Ile) GRCh37: Chr14:88414197 GRCh38: Chr14:87947853	GALC	T429I, T432I, T455I	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 241856214.	NM_000153.4(GALC):c.1038T>C (p.His346=) GRCh37: Chr14:88429851 GRCh38: Chr14:87963507	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 241554415.	NM_000153.4(GALC):c.1225G>T (p.Ala409Ser) GRCh37: Chr14:88417029 GRCh38: Chr14:87950685	GALC	A383S, A386S, A409S	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 241422416.	NM_000153.4(GALC):c.516_517del (p.Tyr173fs) GRCh37: Chr14:88450803-88450804 GRCh38: Chr14:87984459-87984460	GALC	Y147fs, Y150fs, Y173fs	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 241393317.	NM_000153.4(GALC):c.851G>A (p.Gly284Asp) GRCh37: Chr14:88434736 GRCh38: Chr14:87968392	GALC	G258D, G261D, G284D	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 220189118.	NM_000153.4(GALC):c.1303G>A (p.Glu435Lys) GRCh37: Chr14:88416224 GRCh38: Chr14:87949880	GALC	E412K, E435K, E409K	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 219960319.	NM_000153.4(GALC):c.693G>T (p.Glu231Asp) GRCh37: Chr14:88442761 GRCh38: Chr14:87976417	GALC	E205D, E208D, E231D	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 219592820.	NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser) GRCh37: Chr14:88429779-88429780 GRCh38: Chr14:87963435-87963436	GALC	Y370S, Y347S, Y344S	Galactosylceramide beta-galactosidase deficiency, not provided	Uncertain significance (Mar 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219592621.	NM_000153.4(GALC):c.714C>G (p.Leu238=) GRCh37: Chr14:88442740 GRCh38: Chr14:87976396	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 219491722.	NM_000153.4(GALC):c.1251+5G>C GRCh37: Chr14:88416998 GRCh38: Chr14:87950654	GALC		Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 219382823.	NM_000153.4(GALC):c.1072C>G (p.Leu358Val) GRCh37: Chr14:88429817 GRCh38: Chr14:87963473	GALC	L335V, L332V, L358V	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 219321224.	NM_000153.4(GALC):c.1159A>G (p.Met387Val) GRCh37: Chr14:88429730 GRCh38: Chr14:87963386	GALC	M361V, M364V, M387V	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 218892725.	NM_000153.4(GALC):c.583-9del GRCh37: Chr14:88448596 GRCh38: Chr14:87982252	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 218855326.	NM_000153.4(GALC):c.1298C>T (p.Thr433Ile) GRCh37: Chr14:88416229 GRCh38: Chr14:87949885	GALC	T433I, T407I, T410I	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 218771327.	NM_000153.4(GALC):c.1318A>T (p.Lys440Ter) GRCh37: Chr14:88416209 GRCh38: Chr14:87949865	GALC	K440, K414, K417*	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 218689028.	NM_000153.4(GALC):c.1904C>A (p.Thr635Asn) GRCh37: Chr14:88406256 GRCh38: Chr14:87939912	GALC	T612N, T609N, T635N	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 218573129.	NM_000153.4(GALC):c.501T>C (p.Asn167=) GRCh37: Chr14:88450819 GRCh38: Chr14:87984475	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 218518330.	NM_000153.4(GALC):c.509T>C (p.Leu170Pro) GRCh37: Chr14:88450811 GRCh38: Chr14:87984467	GALC	L147P, L144P, L170P	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218236731.	NM_000153.4(GALC):c.1049T>G (p.Phe350Cys) GRCh37: Chr14:88429840 GRCh38: Chr14:87963496	GALC	F324C, F327C, F350C	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 218191832.	NM_000153.4(GALC):c.1816A>T (p.Arg606Trp) GRCh37: Chr14:88407757 GRCh38: Chr14:87941413	GALC	R580W, R583W, R606W	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 217179733.	NM_000153.4(GALC):c.753-14C>T GRCh37: Chr14:88434848 GRCh38: Chr14:87968504	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 217068734.	NM_000153.4(GALC):c.848T>C (p.Met283Thr) GRCh37: Chr14:88434739 GRCh38: Chr14:87968395	GALC	M257T, M260T, M283T	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 216783335.	NM_000153.4(GALC):c.1978A>G (p.Lys660Glu) GRCh37: Chr14:88401156 GRCh38: Chr14:87934812	GALC	K634E, K660E, K637E	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216624136.	NM_000153.4(GALC):c.753-13T>C GRCh37: Chr14:88434847 GRCh38: Chr14:87968503	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 216589237.	NM_000153.4(GALC):c.693G>C (p.Glu231Asp) GRCh37: Chr14:88442761 GRCh38: Chr14:87976417	GALC	E208D, E205D, E231D	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 216588838.	NM_000153.4(GALC):c.719A>G (p.Asp240Gly) GRCh37: Chr14:88442735 GRCh38: Chr14:87976391	GALC	D214G, D240G, D217G	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 216403239.	NM_000153.4(GALC):c.792G>A (p.Lys264=) GRCh37: Chr14:88434795 GRCh38: Chr14:87968451	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 216354340.	NM_000153.4(GALC):c.2042T>C (p.Val681Ala) GRCh37: Chr14:88401092 GRCh38: Chr14:87934748	GALC	V655A, V658A, V681A	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 216186741.	NM_000153.4(GALC):c.1339-16G>A GRCh37: Chr14:88414238 GRCh38: Chr14:87947894	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216054742.	NM_000153.4(GALC):c.1252-3C>T GRCh37: Chr14:88416278 GRCh38: Chr14:87949934	GALC		Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 215923843.	NM_000153.4(GALC):c.195+6C>T GRCh37: Chr14:88459308 GRCh38: Chr14:87992964	GALC		Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 215867444.	NM_000153.4(GALC):c.71C>G (p.Ala24Gly) GRCh37: Chr14:88459438 GRCh38: Chr14:87993094	GALC	A24G	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 215834745.	NM_000153.4(GALC):c.11_14dup (p.Leu6fs) GRCh37: Chr14:88459494-88459495 GRCh38: Chr14:87993150-87993151	GALC	L6fs	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 215784846.	NM_000153.4(GALC):c.758A>G (p.His253Arg) GRCh37: Chr14:88434829 GRCh38: Chr14:87968485	GALC	H227R, H230R, H253R	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215407747.	NM_000153.4(GALC):c.265-20A>G GRCh37: Chr14:88454571 GRCh38: Chr14:87988227	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 215221148.	NM_000153.4(GALC):c.757C>T (p.His253Tyr) GRCh37: Chr14:88434830 GRCh38: Chr14:87968486	GALC	H230Y, H253Y, H227Y	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 215161649.	NM_000153.4(GALC):c.786T>C (p.Asp262=) GRCh37: Chr14:88434801 GRCh38: Chr14:87968457	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 215139150.	NM_000153.4(GALC):c.484G>A (p.Asp162Asn) GRCh37: Chr14:88450836 GRCh38: Chr14:87984492	GALC	D136N, D162N, D139N	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215100651.	NM_000153.4(GALC):c.2033A>G (p.Asn678Ser) GRCh37: Chr14:88401101 GRCh38: Chr14:87934757	GALC	N652S, N655S, N678S	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 215098852.	NM_000153.4(GALC):c.1417C>T (p.Arg473Cys) GRCh37: Chr14:88414144 GRCh38: Chr14:87947800	GALC	R450C, R447C, R473C	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 215020453.	NM_000153.4(GALC):c.1774G>A (p.Ala592Thr) GRCh37: Chr14:88407799 GRCh38: Chr14:87941455	GALC	A569T, A592T, A566T	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 214978554.	NM_000153.4(GALC):c.1834+18T>G GRCh37: Chr14:88407721 GRCh38: Chr14:87941377	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 214851555.	NM_000153.4(GALC):c.2006_2009del (p.His669fs) GRCh37: Chr14:88401125-88401128 GRCh38: Chr14:87934781-87934784	GALC	H669fs, H646fs, H643fs	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 214815356.	NM_000153.4(GALC):c.63G>A (p.Ala21=) GRCh37: Chr14:88459446 GRCh38: Chr14:87993102	GALC		Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 214756457.	NM_000153.4(GALC):c.1460C>T (p.Pro487Leu) GRCh37: Chr14:88414101 GRCh38: Chr14:87947757	GALC	P461L, P464L, P487L	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 214751858.	NM_000153.4(GALC):c.1221A>T (p.Gln407His) GRCh37: Chr14:88417033 GRCh38: Chr14:87950689	GALC	Q384H, Q381H, Q407H	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 214734059.	NM_000153.4(GALC):c.1980G>C (p.Lys660Asn) GRCh37: Chr14:88401154 GRCh38: Chr14:87934810	GALC	K634N, K660N, K637N	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 214575960.	NM_000153.4(GALC):c.2050A>G (p.Thr684Ala) GRCh37: Chr14:88401084 GRCh38: Chr14:87934740	GALC	T658A, T661A, T684A	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 214558361.	NM_000153.4(GALC):c.328+19T>C GRCh37: Chr14:88454469 GRCh38: Chr14:87988125	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 214085962.	NM_000153.4(GALC):c.1338+19C>T GRCh37: Chr14:88416170 GRCh38: Chr14:87949826	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 213761863.	NM_000153.4(GALC):c.236G>A (p.Arg79His) GRCh37: Chr14:88454827 GRCh38: Chr14:87988483	GALC	R79H, R53H	Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency	Pathogenic/Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213761764.	NM_000153.4(GALC):c.246A>G (p.Ile82Met) GRCh37: Chr14:88454817 GRCh38: Chr14:87988473	GALC	I56M, I82M	Galactosylceramide beta-galactosidase deficiency	Pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 213761665.	NM_000153.4(GALC):c.392G>A (p.Trp131Ter) GRCh37: Chr14:88452883 GRCh38: Chr14:87986539	GALC	W105, W108, W131*	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 213761566.	NM_000153.4(GALC):c.938A>G (p.Tyr313Cys) GRCh37: Chr14:88431944 GRCh38: Chr14:87965600	GALC	Y287C, Y313C, Y290C	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 213761467.	NM_000153.4(GALC):c.977C>T (p.Thr326Met) GRCh37: Chr14:88431905 GRCh38: Chr14:87965561	GALC	T300M, T326M, T303M	not provided, Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213761368.	NM_000153.4(GALC):c.1034-2A>G GRCh37: Chr14:88429857 GRCh38: Chr14:87963513	GALC		Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 213761269.	NM_000153.4(GALC):c.1151T>C (p.Ile384Thr) GRCh37: Chr14:88429738 GRCh38: Chr14:87963394	GALC	I358T, I361T, I384T	not specified, Galactosylceramide beta-galactosidase deficiency	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 213761170.	NM_000153.4(GALC):c.1671-2A>G GRCh37: Chr14:88407904 GRCh38: Chr14:87941560	GALC		Galactosylceramide beta-galactosidase deficiency	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 213516971.	NM_000153.4(GALC):c.583-13T>G GRCh37: Chr14:88448600 GRCh38: Chr14:87982256	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213472972.	NM_000153.4(GALC):c.417G>A (p.Lys139=) GRCh37: Chr14:88452858 GRCh38: Chr14:87986514	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213348273.	NM_000153.4(GALC):c.1451_1455del (p.Gln484fs) GRCh37: Chr14:88414106-88414110 GRCh38: Chr14:87947762-87947766	GALC	Q484fs, Q461fs, Q458fs	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 213094274.	NM_000153.4(GALC):c.1002C>T (p.His334=) GRCh37: Chr14:88431880 GRCh38: Chr14:87965536	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 213079875.	NM_000153.4(GALC):c.1252-9_1252-5del GRCh37: Chr14:88416280-88416284 GRCh38: Chr14:87949936-87949940	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 213011076.	NM_000153.4(GALC):c.622-7C>A GRCh37: Chr14:88442839 GRCh38: Chr14:87976495	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 212991577.	NM_000153.4(GALC):c.254A>C (p.Tyr85Ser) GRCh37: Chr14:88454809 GRCh38: Chr14:87988465	GALC	Y59S, Y85S	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212958778.	NM_000153.4(GALC):c.83C>T (p.Ala28Val) GRCh37: Chr14:88459426 GRCh38: Chr14:87993082	GALC	A28V	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212926379.	NM_000153.4(GALC):c.1081G>A (p.Val361Ile) GRCh37: Chr14:88429808 GRCh38: Chr14:87963464	GALC	V361I, V338I, V335I	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212915380.	NM_000153.4(GALC):c.1743A>G (p.Arg581=) GRCh37: Chr14:88407830 GRCh38: Chr14:87941486	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212791881.	NM_000153.4(GALC):c.942T>C (p.Tyr314=) GRCh37: Chr14:88431940 GRCh38: Chr14:87965596	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 212724282.	NM_000153.4(GALC):c.645del (p.Gln216fs) GRCh37: Chr14:88442809 GRCh38: Chr14:87976465	GALC	Q216fs, Q190fs, Q193fs	Galactosylceramide beta-galactosidase deficiency	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 212673783.	NM_000153.4(GALC):c.840T>C (p.Asn280=) GRCh37: Chr14:88434747 GRCh38: Chr14:87968403	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 212596084.	NM_000153.4(GALC):c.969G>T (p.Gly323=) GRCh37: Chr14:88431913 GRCh38: Chr14:87965569	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 212584085.	NM_000153.4(GALC):c.1395A>G (p.Thr465=) GRCh37: Chr14:88414166 GRCh38: Chr14:87947822	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 212079186.	NM_000153.4(GALC):c.389A>G (p.Glu130Gly) GRCh37: Chr14:88452886 GRCh38: Chr14:87986542	GALC	E107G, E104G, E130G	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 212017387.	NM_000153.4(GALC):c.90C>T (p.Pro30=) GRCh37: Chr14:88459419 GRCh38: Chr14:87993075	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211932788.	NM_000153.4(GALC):c.370A>G (p.Asn124Asp) GRCh37: Chr14:88452905 GRCh38: Chr14:87986561	GALC	N101D, N98D, N124D	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211280489.	NM_000153.4(GALC):c.868C>A (p.Arg290Ser) GRCh37: Chr14:88434719 GRCh38: Chr14:87968375	GALC	R290S, R267S, R264S	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 211253990.	NM_000153.4(GALC):c.264+7A>G GRCh37: Chr14:88454792 GRCh38: Chr14:87988448	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211083491.	NM_000153.4(GALC):c.339G>A (p.Glu113=) GRCh37: Chr14:88452936 GRCh38: Chr14:87986592	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 210930492.	NM_000153.4(GALC):c.1687_1688insTTTTATAA (p.Lys563delinsIleLeuTer) GRCh37: Chr14:88407885-88407886 GRCh38: Chr14:87941541-87941542	GALC		Galactosylceramide beta-galactosidase deficiency	Pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 210893593.	NM_000153.4(GALC):c.395G>A (p.Trp132Ter) GRCh37: Chr14:88452880 GRCh38: Chr14:87986536	GALC	W106, W132, W109*	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 210759794.	NM_000153.4(GALC):c.1450del (p.Gln484fs) GRCh37: Chr14:88414111 GRCh38: Chr14:87947767	GALC	Q458fs, Q461fs, Q484fs	Galactosylceramide beta-galactosidase deficiency	Pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 210651095.	NM_000153.4(GALC):c.1340_1341delinsAT (p.Leu447His) GRCh37: Chr14:88414220-88414221 GRCh38: Chr14:87947876-87947877	GALC	L447H, L421H, L424H	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 210596396.	NM_000153.4(GALC):c.1608G>A (p.Gln536=) GRCh37: Chr14:88411959 GRCh38: Chr14:87945615	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 210411397.	NM_000153.4(GALC):c.105G>A (p.Ala35=) GRCh37: Chr14:88459404 GRCh38: Chr14:87993060	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210234998.	NM_000153.4(GALC):c.360A>C (p.Ala120=) GRCh37: Chr14:88452915 GRCh38: Chr14:87986571	GALC		Galactosylceramide beta-galactosidase deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 210085999.	NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys) GRCh37: Chr14:88414092 GRCh38: Chr14:87947748	GALC	Y464C, Y490C, Y467C	Galactosylceramide beta-galactosidase deficiency	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 2098333100.	NM_000153.4(GALC):c.541G>A (p.Gly181Ser) GRCh37: Chr14:88450779 GRCh38: Chr14:87984435	GALC	G158S, G181S, G155S	Galactosylceramide beta-galactosidase deficiency	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter

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