GALC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 149167	GRCh38/hg38 14q31.3(chr14:86155419-88321735)x3	GALC, GPR65 +26 more	Copy number gain	See cases	GLikely benign
Select item 144379	GRCh38/hg38 14q31.3(chr14:87746480-88540154)x3	GALC, GPR65 +25 more	Copy number gain	See cases	GUncertain significance
Select item 549887	NC_000014.9:g.87925139C>T	GALC	Single nucleotide variant	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 553480	NC_000014.9:g.87925152T>C	GALC	Single nucleotide variant	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1184375	NC_000014.9:g.87925163_87956828del	GALC, LOC132090288	Deletion	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 553596	NC_000014.9:g.87925176G>A	GALC	Single nucleotide variant	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 3064268	NC_000014.9:g.(?_87933020)_(87956057_?)del	GALC, LOC132090288	Deletion	Epilepsy syndrome	GUncertain risk allele
Select item 887448	NM_000153.4(GALC):c.*1625A>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 887449	NM_000153.4(GALC):c.*1598G>A	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314727	NM_000153.4(GALC):c.*1588T>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 157318	Single allele	GALC	Deletion	Normal pregnancy	Gnot provided
Select item 887632	NM_000153.4(GALC):c.*1584G>A	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314728	NM_000153.4(GALC):c.*1458T>C	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314729	NM_000153.4(GALC):c.*1453A>G	GALC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314730	NM_000153.4(GALC):c.*1451C>A	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314731	NM_000153.4(GALC):c.*1275G>A	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 314732	NM_000153.4(GALC):c.1186_1188del	GALC	Deletion (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GBenign
Select item 314733	NM_000153.4(GALC):c.*1126G>A	GALC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 887633	NM_000153.4(GALC):c.*999T>C	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 884481	NM_000153.4(GALC):c.*994C>A	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314734	NM_000153.4(GALC):c.*989G>A	GALC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 884482	NM_000153.4(GALC):c.*877T>A	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314735	NM_000153.4(GALC):c.*801A>T	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 314736	NM_000153.4(GALC):c.*723G>A	GALC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314737	NM_000153.4(GALC):c.*709A>C	GALC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314738	NM_000153.4(GALC):c.*627A>G	GALC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314739	NM_000153.4(GALC):c.*626C>T	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 314740	NM_000153.4(GALC):c.*591G>A	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314741	NM_000153.4(GALC):c.*590T>C	GALC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 885422	NM_000153.4(GALC):c.*499T>C	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 885423	NM_000153.4(GALC):c.*486C>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 885424	NM_000153.4(GALC):c.*455A>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 886438	NM_000153.4(GALC):c.*405A>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 314742	NM_000153.4(GALC):c.*395C>T	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 886439	NM_000153.4(GALC):c.*389G>T	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 886440	NM_000153.4(GALC):c.*375A>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 886441	NM_000153.4(GALC):c.*366A>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 886442	NM_000153.4(GALC):c.*363A>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 655243	NC_000014.9:g.(?_87934712)_(87949951_?)del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 456710	NC_000014.9:g.(?_87934712)_(87950768_?)del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 554205	NM_000153.4(GALC):c.*14A>G	GALC	Single nucleotide variant (3 prime UTR variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 553369	NM_000153.4(GALC):c.*12G>A	GALC	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 2777195	NM_000153.4(GALC):c.2058A>G (p.Ter686=)	GALC	Single nucleotide variant (synonymous variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2704425	NM_000153.4(GALC):c.2058A>C (p.Ter686Tyr)	GALC	Single nucleotide variant (stop lost +2 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2078132	NM_000153.4(GALC):c.2057A>G (p.Ter686=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1066870	NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)	GALC	Single nucleotide variant (stop lost)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1159697	NM_000153.4(GALC):c.2055C>T (p.Arg685=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1593684	NM_000153.4(GALC):c.2054G>A (p.Arg685His)	GALC (R659H +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2683272	NM_000153.4(GALC):c.2053C>T (p.Arg685Cys)	GALC (R474C +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 314743	NM_000153.4(GALC):c.2053C>A (p.Arg685Ser)	GALC (R685S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2145759	NM_000153.4(GALC):c.2050A>G (p.Thr684Ala)	GALC (T658A +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2888368	NM_000153.4(GALC):c.2049C>A (p.Ala683=)	GALC	Single nucleotide variant (synonymous variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2799243	NM_000153.4(GALC):c.2042T>G (p.Val681Gly)	GALC (V625G +5 more)	Single nucleotide variant (missense variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 2163543	NM_000153.4(GALC):c.2042T>C (p.Val681Ala)	GALC (V655A +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 208291	NM_000153.4(GALC):c.2041G>A (p.Val681Met)	GALC (V681M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1122760	NM_000153.4(GALC):c.2040T>C (p.Leu680=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1067094	NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)	GALC (F653fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 841901	NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)	GALC (F679fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432012	NM_000153.4(GALC):c.2039T>C (p.Leu680Pro)	GALC (L654P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452851	NM_000153.4(GALC):c.2037dup (p.Leu680fs)	GALC (L657fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2792674	NM_000153.4(GALC):c.2037T>C (p.Phe679=)	GALC	Single nucleotide variant (synonymous variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 633227	NM_000153.4(GALC):c.2035T>C (p.Phe679Leu)	GALC (F679L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 742320	NM_000153.4(GALC):c.2034C>T (p.Asn678=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2151006	NM_000153.4(GALC):c.2033A>G (p.Asn678Ser)	GALC (N652S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1650829	NM_000153.4(GALC):c.2031C>T (p.Asp677=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1453007	NM_000153.4(GALC):c.2029del (p.Asp677fs)	GALC (D651fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 2801870	NM_000153.4(GALC):c.2028T>C (p.Phe676=)	GALC	Single nucleotide variant (synonymous variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1903927	NM_000153.4(GALC):c.2025G>T (p.Gln675His)	GALC (Q649H +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1105984	NM_000153.4(GALC):c.2022A>G (p.Ala674=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3098027	NM_000153.4(GALC):c.2014G>C (p.Glu672Gln)	GALC (E672Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1648697	NM_000153.4(GALC):c.2010C>T (p.Ser670=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2148515	NM_000153.4(GALC):c.2006_2009del (p.His669fs)	GALC (H669fs +2 more)	Microsatellite (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1566937	NM_000153.4(GALC):c.2007C>T (p.His669=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2864057	NM_000153.4(GALC):c.2006A>G (p.His669Arg)	GALC (H553R +5 more)	Single nucleotide variant (missense variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2582925	NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)	GALC (T457I +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2056057	NM_000153.4(GALC):c.2003C>G (p.Thr668Ser)	GALC (T668S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1480989	NM_000153.4(GALC):c.2002A>G (p.Thr668Ala)	GALC (T645A +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 857343	NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)	GALC (T642P +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 314744	NM_000153.4(GALC):c.2001A>C (p.Gly667=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 2689107	NM_000153.4(GALC):c.1999G>A (p.Gly667Arg)	GALC (G456R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 807156	NM_000153.4(GALC):c.1997T>C (p.Ile666Thr)	GALC (I643T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251930	NM_000153.4(GALC):c.1993G>A (p.Ala665Thr)	GALC (A454T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 793368	NM_000153.4(GALC):c.1992T>C (p.Ala664=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1066093	NM_000153.4(GALC):c.1987del (p.Trp663fs)	GALC (W637fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 402185	NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)	GALC (W640G +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2147340	NM_000153.4(GALC):c.1980G>C (p.Lys660Asn)	GALC (K634N +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2167833	NM_000153.4(GALC):c.1978A>G (p.Lys660Glu)	GALC (K634E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 551195	NM_000153.4(GALC):c.1978A>T (p.Lys660Ter)	GALC (K660* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 1298354	NM_000153.4(GALC):c.1964del (p.Pro655fs)	GALC (P629fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1705063	NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)	GALC (W625* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 555965	NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	GALC (L650P +2 more)	Single nucleotide variant (missense variant)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 1127303	NM_000153.4(GALC):c.1947T>C (p.Ser649=)	GALC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1422812	NM_000153.4(GALC):c.1946C>T (p.Ser649Phe)	GALC (S649F +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1348405	NM_000153.4(GALC):c.1946C>G (p.Ser649Cys)	GALC (S623C +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2761841	NM_000153.4(GALC):c.1944G>A (p.Lys648=)	GALC	Single nucleotide variant (synonymous variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign

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