"Genome-Nilou Lab"[submitter] AND "GALC"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92500	NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)	GALC (T641A +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 680307	NM_000153.4(GALC):c.1911+129G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 680306	NM_000153.4(GALC):c.1911+122C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 225368	NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	GALC (L634S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1177548	NM_000153.4(GALC):c.1835-79A>G	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92499	NM_000153.4(GALC):c.1834+5C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 1210410	NM_000153.4(GALC):c.1781G>A (p.Gly594Glu)	GALC (G568E +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 92498	NM_000153.4(GALC):c.1698A>T (p.Val566=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 92497	NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)	GALC (I562T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign; other
Select item 92496	NM_000153.4(GALC):c.1671-15C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 1177549	NM_000153.4(GALC):c.1670+60C>T	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 167118	NM_000153.4(GALC):c.1620A>G (p.Thr540=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 92494	NM_000153.4(GALC):c.1350C>T (p.Ser450=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1172738	NM_000153.4(GALC):c.1339-61C>T	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177550	NM_000153.4(GALC):c.1251+150C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GBenign
Select item 1199277	NM_000153.4(GALC):c.1183A>C (p.Ile395Leu)	GALC (I369L +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 92493	NM_000153.4(GALC):c.1162-4del	GALC	Deletion (intron variant)	not specified +2 more	GBenign
Select item 255369	NM_000153.4(GALC):c.1161+38T>C	GALC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 885479	NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)	GALC (A346S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 92513	NM_000153.4(GALC):c.984G>A (p.Gln328=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 265349	NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	GALC (Y319C +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1177551	NM_000153.4(GALC):c.753-59C>T	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177552	NM_000153.4(GALC):c.752+56T>C	GALC, LOC132090289	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92509	NM_000153.4(GALC):c.742G>A (p.Asp248Asn)	GALC (D248N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign; other
Select item 1177553	NM_000153.4(GALC):c.621+98T>C	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177554	NM_000153.4(GALC):c.621+63T>A	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255379	NM_000153.4(GALC):c.621+24T>C	GALC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1177555	NM_000153.4(GALC):c.583-56G>A	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177533	NM_000153.4(GALC):c.583-108G>T	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177534	NM_000153.4(GALC):c.582+99C>T	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92506	NM_000153.4(GALC):c.550C>T (p.Arg184Cys)	GALC (R184C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign; other
Select item 92502	NM_000153.4(GALC):c.330C>T (p.Asp110=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 255375	NM_000153.4(GALC):c.329-35G>A	GALC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92501	NM_000153.4(GALC):c.328+19T>A	GALC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1177535	NM_000153.4(GALC):c.264+108G>A	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255374	NM_000153.4(GALC):c.196-43C>T	GALC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1177536	NM_000153.4(GALC):c.196-70G>A	GALC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177537	NM_000153.4(GALC):c.195+34G>T	GALC, LOC130056217	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1199278	NM_000153.4(GALC):c.122G>C (p.Gly41Ala)	GALC (G41A)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 92510	NM_000153.4(GALC):c.75C>A (p.Gly25=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 92508	NM_000153.4(GALC):c.61G>C (p.Ala21Pro)	GALC (A21P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 92505	NM_000153.4(GALC):c.42G>C (p.Ala14=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency +2 more	GBenign
Select item 314763	NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	GALC (A14G)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity

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Items: 43