ClinVar for Gene (Select 2581) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1447

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384867	NM_000153.4(GALC):c.1243G>A (p.Gly415Arg)	GALC (G204R +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
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 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 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 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 3368905	NM_000153.4(GALC):c.1033+3A>G	GALC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3355201	NM_000153.4(GALC):c.1251+9A>T	GALC	Single nucleotide variant (intron variant)	GALC-related disorder	GLikely benign
Select item 3338131	NM_000153.4(GALC):c.1161+3946G>A	GALC	Single nucleotide variant (intron variant)	Movement disorder	GLikely benign
Select item 3336459	NM_000153.4(GALC):c.968G>A (p.Gly323Glu)	GALC (G112E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280503	NM_000153.4(GALC):c.487T>C (p.Trp163Arg)	GALC (W140R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3256561	NM_000153.4(GALC):c.393G>A (p.Trp131Ter)	GALC (W105* +4 more)	Single nucleotide variant (nonsense +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
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 3251368	NM_000153.4(GALC):c.1282A>G (p.Thr428Ala)	GALC (T217A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3233824	NM_000153.4(GALC):c.443G>A (p.Gly148Glu)	GALC (G122E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098029	NM_000153.4(GALC):c.380G>A (p.Arg127Gln)	GALC (R101Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3098026	NM_000153.4(GALC):c.19T>C (p.Ser7Pro)	GALC (S7P)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3098025	NM_000153.4(GALC):c.1687A>C (p.Lys563Gln)	GALC (K352Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075918	NM_000153.4(GALC):c.1162-2A>G	GALC	Single nucleotide variant (splice acceptor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 3064268	NC_000014.9:g.(?_87933020)_(87956057_?)del	GALC, LOC132090288	Deletion	Epilepsy syndrome	GUncertain risk allele
Select item 3063314	GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1	GALC	Copy number loss	not specified	GPathogenic
Select item 3052500	NC_000014.9:g.87993619C>T	GALC	Single nucleotide variant (5 prime UTR variant)	GALC-related disorder	GLikely benign
Select item 3039108	NM_001201402.2(GALC):c.117+142A>G	GALC	Single nucleotide variant (intron variant)	GALC-related disorder	GLikely benign
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 3030357	NM_001201402.2(GALC):c.81A>G (p.Lys27=)	GALC	Single nucleotide variant (synonymous variant +1 more)	GALC-related disorder	GLikely benign
Select item 3023109	NM_000153.4(GALC):c.1033+20C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	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 3022292	NM_000153.4(GALC):c.1911+14A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3021756	NM_000153.4(GALC):c.908+17C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3020604	NM_000153.4(GALC):c.1671-15_1671-14del	GALC	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3018760	NM_000153.4(GALC):c.908+20T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3015852	NM_000153.4(GALC):c.388G>C (p.Glu130Gln)	GALC (E14Q +4 more)	Single nucleotide variant (missense variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 3010754	NM_000153.4(GALC):c.753-13T>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3009428	NM_000153.4(GALC):c.1213T>A (p.Ser405Thr)	GALC (S194T +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 3009254	NM_000153.4(GALC):c.1911+20G>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3006647	NM_000153.4(GALC):c.598T>C (p.Ser200Pro)	GALC (S144P +4 more)	Single nucleotide variant (missense variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 3006002	NM_000153.4(GALC):c.583-20T>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3003792	NM_000153.4(GALC):c.438C>A (p.Leu146=)	GALC	Single nucleotide variant (synonymous variant +2 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 3003047	NM_000153.4(GALC):c.1405C>G (p.Leu469Val)	GALC (L443V +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 3001940	NM_000153.4(GALC):c.583-14T>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2994905	NM_000153.4(GALC):c.488G>A (p.Trp163Ter)	GALC (W140* +4 more)	Single nucleotide variant (nonsense +2 more)	Galactosylceramide beta-galactosidase deficiency	GPathogenic
Select item 2994455	NM_000153.4(GALC):c.1912-19G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2991438	NM_000153.4(GALC):c.265-14A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2990648	NM_000153.4(GALC):c.1251+5_1251+8del	GALC	Microsatellite (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2990565	NM_000153.4(GALC):c.1056A>G (p.Gln352=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2989484	NM_000153.4(GALC):c.622-19C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2989329	NM_000153.4(GALC):c.1834+8A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2988972	NM_000153.4(GALC):c.1490-4A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2984031	NM_000153.4(GALC):c.1034-13T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2979431	NM_000153.4(GALC):c.329-12_329-3del	GALC	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2979307	NM_000153.4(GALC):c.908+11A>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2976295	NM_000153.4(GALC):c.205C>G (p.Arg69Gly)	GALC (R13G +2 more)	Single nucleotide variant (missense variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2976127	NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)	GALC (G564A +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2973640	NM_000153.4(GALC):c.1162-14T>C	GALC	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 2971829	NM_000153.4(GALC):c.1385A>C (p.Glu462Ala)	GALC (E251A +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2970835	NM_000153.4(GALC):c.196-20T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2965694	NM_000153.4(GALC):c.443-13C>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
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 2957925	NM_000153.4(GALC):c.1835-18A>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2956744	NM_000153.4(GALC):c.265-10C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2956508	NM_000153.4(GALC):c.50T>A (p.Met17Lys)	GALC (M17K)	Single nucleotide variant (missense variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2955234	NM_000153.4(GALC):c.196-16A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2917735	NM_000153.4(GALC):c.908+11A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2917447	NM_000153.4(GALC):c.1339-20A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2915834	NM_000153.4(GALC):c.918A>G (p.Ala306=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2914282	NM_000153.4(GALC):c.442+17G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2914200	NM_000153.4(GALC):c.753-12T>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2913922	NM_000153.4(GALC):c.1008G>A (p.Val336=)	GALC	Single nucleotide variant (synonymous variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2911534	NM_000153.4(GALC):c.228G>A (p.Glu76=)	GALC	Single nucleotide variant (synonymous variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2911055	NM_000153.4(GALC):c.621+20C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2911020	NM_000153.4(GALC):c.196-12T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2910710	NM_000153.4(GALC):c.328+19T>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2907991	NM_000153.4(GALC):c.1835-20A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2906723	NM_000153.4(GALC):c.1339-9_1339-8del	GALC	Deletion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2906489	NM_000153.4(GALC):c.621+18A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2906279	NM_000153.4(GALC):c.1834+17T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2905882	NM_000153.4(GALC):c.69G>A (p.Ser23=)	GALC	Single nucleotide variant (synonymous variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2905872	NM_000153.4(GALC):c.443-15C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2904504	NM_000153.4(GALC):c.909-20T>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2902902	NM_000153.4(GALC):c.582+11T>C	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2900486	NM_000153.4(GALC):c.1251+19C>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2898092	NM_000153.4(GALC):c.1834+13_1834+14insA	GALC	Insertion (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2897514	NM_000153.4(GALC):c.54T>G (p.Thr18=)	GALC	Single nucleotide variant (synonymous variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2897513	NM_000153.4(GALC):c.77G>A (p.Arg26His)	GALC (R26H)	Single nucleotide variant (missense variant +3 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2892492	NM_000153.4(GALC):c.621+15A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2892423	NM_000153.4(GALC):c.196-12T>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2891897	NM_000153.4(GALC):c.1759A>G (p.Ile587Val)	GALC (I376V +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 2890980	NM_000153.4(GALC):c.1374G>T (p.Leu458=)	GALC	Single nucleotide variant (synonymous variant +1 more)	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 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 2888208	NM_000153.4(GALC):c.582+18A>T	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign
Select item 2886325	NM_000153.4(GALC):c.1490-11A>G	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely benign

<< First< Prev

Page of 15