"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GALC"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 558780	NM_000153.4(GALC):c.1862G>A (p.Arg621His)	GALC (R621H +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
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 92498	NM_000153.4(GALC):c.1698A>T (p.Val566=)	GALC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 286665	NM_000153.4(GALC):c.1567C>A (p.Pro523Thr)	GALC (P523T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GUncertain significance
Select item 289955	NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)	GALC (F514S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3380225	NM_000153.4(GALC):c.1526A>T (p.Asp509Val)	GALC (D298V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314748	NM_000153.4(GALC):c.1418G>A (p.Arg473His)	GALC (R473H +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GUncertain significance
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 558781	NM_000153.4(GALC):c.1338+23T>C	GALC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255370	NM_000153.4(GALC):c.1302C>T (p.Ser434=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 92493	NM_000153.4(GALC):c.1162-4del	GALC	Deletion (intron variant)	not specified +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 314751	NM_000153.4(GALC):c.1072C>T (p.Leu358=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 990191	NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)	GALC (T322S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 314753	NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	GALC (G333R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1693625	NM_000153.4(GALC):c.847A>G (p.Met283Val)	GALC (M257V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380226	NM_000153.4(GALC):c.772C>T (p.His258Tyr)	GALC (H142Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 915993	NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	GALC (A199T +2 more)	Single nucleotide variant (missense variant)	Spastic ataxia +2 more	GPathogenic/Likely pathogenic
Select item 211059	NM_000153.4(GALC):c.659G>A (p.Arg220Gln)	GALC (R220Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 369724	NM_000153.4(GALC):c.628A>T (p.Arg210Ter)	GALC (R210* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 255379	NM_000153.4(GALC):c.621+24T>C	GALC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3381123	NM_000153.4(GALC):c.579del (p.Ile193fs)	GALC (I137fs +4 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 702775	NM_000153.4(GALC):c.530C>A (p.Thr177Asn)	GALC (T177N +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1457103	NM_000153.4(GALC):c.461C>A (p.Pro154His)	GALC (P128H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558783	NM_000153.4(GALC):c.428A>G (p.Asn143Ser)	GALC (N143S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1066196	NM_000153.4(GALC):c.349A>C (p.Met117Leu)	GALC (M117L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 92503	NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	GALC (T112A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1163373	NM_000153.4(GALC):c.332G>A (p.Gly111Asp)	GALC (G111D +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
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 92501	NM_000153.4(GALC):c.328+19T>A	GALC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 314757	NM_000153.4(GALC):c.328+6A>G	GALC	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 2683273	NM_000153.4(GALC):c.298G>A (p.Val100Met)	GALC (V100M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 988571	NM_000153.4(GALC):c.293dup (p.Leu98fs)	GALC (L72fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 449966	NM_000153.4(GALC):c.266C>T (p.Pro89Leu)	GALC (P89L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 558784	NM_000153.4(GALC):c.196-3del	GALC	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GBenign
Select item 551142	NM_000153.4(GALC):c.179C>T (p.Ala60Val)	GALC, LOC130056217 (A60V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1693626	NM_000153.4(GALC):c.148G>C (p.Gly50Arg)	GALC, LOC130056217 (G50R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1693627	NM_000153.4(GALC):c.118G>A (p.Gly40Ser)	GALC (G40S)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	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 558785	NM_000153.4(GALC):c.69G>T (p.Ser23=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 990854	NM_000153.4(GALC):c.65G>A (p.Gly22Asp)	GALC (G22D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 314762	NM_000153.4(GALC):c.53C>T (p.Thr18Ile)	GALC (T18I)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 558786	NM_000153.4(GALC):c.49A>G (p.Met17Val)	GALC (M17V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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
Select item 3380227	NM_000153.4(GALC):c.30G>C (p.Trp10Cys)	GALC (W10C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 314768	NM_000153.4(GALC):c.-67T>G	GALC	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity

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Items: 55