Related gene-specific medical variations for Gene (Select 2581) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361912	NM_000153.4(GALC):c.100_111dup (p.Leu37_Ala38insCysAlaLeuLeu)	GALC	Duplication (inframe_insertion +3 more)	not provided	GUncertain significance
Select item 3338131	NM_000153.4(GALC):c.1161+3946G>A	GALC	Single nucleotide variant (intron variant)	Movement disorder	GLikely benign
Select item 3250474	NM_000153.4(GALC):c.836T>G (p.Leu279Ter)	GALC (L163* +5 more)	Single nucleotide variant (nonsense +1 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 3243949	NC_000014.8:g.(?_88431972)_(88439445_?)del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 3243948	NC_000014.8:g.(?_88429708)_(88459508_?)dup	GALC	Duplication	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 3243947	NC_000014.8:g.(?_88416169)_(88442852_?)del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 3243946	NC_000014.8:g.(?_88429708)_(88429875_?)del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 3243945	NC_000014.8:g.(?_88401076)_(88459508_?)del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 3063314	GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1	GALC	Copy number loss	not specified	GPathogenic
Select item 3030921	NM_000153.4(GALC):c.195+25G>A	GALC, LOC130056217	Single nucleotide variant (intron variant)	GALC-related disorder	GLikely benign
Select item 3022940	NM_000153.4(GALC):c.195+20G>A	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2972728	NM_000153.4(GALC):c.166G>C (p.Asp56His)	GALC, LOC130056217 (D56H)	Single nucleotide variant (missense variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 2959956	NM_000153.4(GALC):c.195+17G>C	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2889100	NM_000153.4(GALC):c.195+16C>G	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2882136	NM_000153.4(GALC):c.195+13C>T	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2878626	NM_000153.4(GALC):c.129C>T (p.Tyr43=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2865682	NM_000153.4(GALC):c.174C>A (p.Ile58=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2765431	NM_000153.4(GALC):c.144C>G (p.Ser48=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2750061	NM_000153.4(GALC):c.175G>T (p.Gly59Cys)	GALC, LOC130056217 (G59C)	Single nucleotide variant (missense variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 2736148	NM_000153.4(GALC):c.175G>C (p.Gly59Arg)	GALC, LOC130056217 (G59R)	Single nucleotide variant (missense variant +3 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2714780	NM_000153.4(GALC):c.195+19G>T	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2694554	NM_000153.4(GALC):c.170G>A (p.Gly57Asp)	GALC, LOC130056217 (G57D)	Single nucleotide variant (missense variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 2690936	NC_000014.9:g.88416189_88416275del	GALC, SPATA7	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 2689108	NM_000153.4(GALC):c.365A>G (p.Asp122Gly)	GALC (D122G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2689106	NM_000153.4(GALC):c.1835C>T (p.Ala612Val)	GALC (A401V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637946	NM_000153.4(GALC):c.454T>C (p.Ser152Pro)	GALC (S126P +4 more)	Single nucleotide variant (missense variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2576044	NM_000153.4(GALC):c.1468T>G (p.Tyr490Asp)	GALC (Y464D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483293	NM_000153.4(GALC):c.187G>T (p.Gly63Cys)	GALC, LOC130056217 (G63C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432022	NM_000153.4(GALC):c.1459C>T (p.Pro487Ser)	GALC (P461S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432021	NM_000153.4(GALC):c.606T>G (p.Asn202Lys)	GALC (N176K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432019	NM_000153.4(GALC):c.621+6T>C	GALC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2432018	NM_000153.4(GALC):c.194G>C (p.Gly65Ala)	GALC, LOC130056217 (G65A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432017	NM_000153.4(GALC):c.147_148delinsAA (p.Asp49_Gly50delinsGluArg)	GALC, LOC130056217	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2432016	NM_000153.4(GALC):c.479G>C (p.Gly160Ala)	GALC (G134A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432014	NM_000153.4(GALC):c.16C>T (p.Leu6Phe)	GALC (L6F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432013	NM_000153.4(GALC):c.328G>A (p.Asp110Asn)	GALC (D110N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2159238	NM_000153.4(GALC):c.195+6C>T	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2085743	NM_000153.4(GALC):c.141C>G (p.Asp47Glu)	GALC, LOC130056217 (D47E)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2055644	NM_000153.4(GALC):c.195+8G>C	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2032226	NM_000153.4(GALC):c.183_192dup (p.Gly65fs)	GALC, LOC130056217 (G65fs)	Duplication (frameshift variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 2024351	NM_000153.4(GALC):c.150G>C (p.Gly50=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2014771	NM_000153.4(GALC):c.131T>C (p.Val44Ala)	GALC, LOC130056217 (V44A)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2004576	NM_000153.4(GALC):c.195+2T>C	GALC, LOC130056217	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1997865	NM_000153.4(GALC):c.133_134insGTCG (p.Leu45fs)	GALC, LOC130056217 (L45fs)	Insertion (frameshift variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1952834	NM_000153.4(GALC):c.146A>T (p.Asp49Val)	GALC, LOC130056217 (D49V)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1920358	NM_000153.4(GALC):c.142T>G (p.Ser48Ala)	GALC, LOC130056217 (S48A)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1899088	NM_000153.4(GALC):c.195G>A (p.Gly65=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1881562	NM_000153.4(GALC):c.157C>A (p.Arg53=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1878336	NM_000153.4(GALC):c.187_195+10dup	GALC, LOC130056217	Duplication (intron variant +1 more)	not specified	GUncertain significance
Select item 1716134	NM_000153.4(GALC):c.174C>G (p.Ile58Met)	GALC, LOC130056217 (I58M)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
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 1677293	NM_000153.4(GALC):c.193G>T (p.Gly65Trp)	GALC, LOC130056217 (G65W)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 1670368	NM_000153.4(GALC):c.195+11A>G	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1665927	NM_000153.4(GALC):c.192C>G (p.Gly64=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1657443	NM_000153.4(GALC):c.162G>A (p.Glu54=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1652967	NM_000153.4(GALC):c.135C>G (p.Leu45=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1631605	NM_000153.4(GALC):c.135C>T (p.Leu45=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1616198	NM_000153.4(GALC):c.195+17G>A	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1535434	NM_000153.4(GALC):c.138C>T (p.Asp46=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1527832	GRCh37/hg19 14q31.3(chr14:88399622-88422569)	GALC	Copy number loss	not specified	GUncertain significance
Select item 1473965	NM_000153.4(GALC):c.170G>T (p.Gly57Val)	GALC, LOC130056217 (G57V)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 1467235	NM_000153.4(GALC):c.175G>A (p.Gly59Ser)	GALC, LOC130056217 (G59S)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 1386595	NM_000153.4(GALC):c.145G>C (p.Asp49His)	GALC, LOC130056217 (D49H)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 1346242	NM_000153.4(GALC):c.169G>T (p.Gly57Cys)	GALC, LOC130056217 (G57C)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 1324446	NM_000153.4(GALC):c.1842G>A (p.Trp614Ter)	GALC (W588* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1324445	NM_000153.4(GALC):c.169G>C (p.Gly57Arg)	GALC, LOC130056217 (G57R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1322975	NM_000153.4(GALC):c.1531del (p.Thr511fs)	GALC (T485fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1293666	NM_000153.4(GALC):c.195+34G>C	GALC, LOC130056217	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257748	NM_000153.4(GALC):c.752+120C>T	GALC, LOC132090289	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202411	NM_000153.4(GALC):c.752+198_752+199del	GALC, LOC132090289	Deletion (intron variant)	not provided	GLikely benign
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 1177537	NM_000153.4(GALC):c.195+34G>T	GALC, LOC130056217	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1152570	NM_000153.4(GALC):c.195+8G>A	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1136441	NM_000153.4(GALC):c.174C>T (p.Ile58=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1125134	NM_000153.4(GALC):c.195+16C>T	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1118294	NM_000153.4(GALC):c.168C>T (p.Asp56=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1105952	NM_000153.4(GALC):c.195+12G>A	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1102557	NM_000153.4(GALC):c.180G>T (p.Ala60=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1101635	NM_000153.4(GALC):c.195+7G>A	GALC, LOC130056217	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1092837	NM_000153.4(GALC):c.151C>T (p.Leu51=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1088794	NM_000153.4(GALC):c.141C>T (p.Asp47=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 1077097	NM_000153.4(GALC):c.739G>T (p.Val247Phe)	GALC (V221F +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 1073951	NC_000014.8:g.(?_88391503)_88423172del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1070767	NM_000153.4(GALC):c.176del (p.Gly59fs)	GALC, LOC130056217 (G59fs)	Deletion (frameshift variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic
Select item 1070539	NM_000153.4(GALC):c.181_182insAG (p.Val61fs)	GALC, LOC130056217 (V61fs)	Insertion (frameshift variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1070141	NC_000014.8:g.(?_88391504)_88423174del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 1070140	NC_000014.8:g.(?_88391504)_88423173del	GALC	Deletion	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 997812	NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del	GALC	Deletion	Intellectual disability	GPathogenic
Select item 990855	NM_000153.4(GALC):c.-63C>G	GALC	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990852	NM_000153.4(GALC):c.108G>A (p.Leu36=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990194	NM_000153.4(GALC):c.597G>T (p.Arg199Ser)	GALC (R173S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990189	NM_000153.4(GALC):c.1161+9T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990188	NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr)	GALC (D425Y +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990186	NM_000153.4(GALC):c.1436T>C (p.Leu479Pro)	GALC (L453P +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990185	NM_000153.4(GALC):c.1490-8C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 990184	NM_000153.4(GALC):c.1490-7T>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 975393	NM_000153.4(GALC):c.165C>G (p.Phe55Leu)	GALC, LOC130056217 (F55L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 975391	NM_000153.4(GALC):c.380G>T (p.Arg127Leu)	GALC (R101L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign

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