C0023521[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 553596	NC_000014.9:g.87925176G>A	GALC	Single nucleotide variant	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
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 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 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 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 550049	NM_000153.4(GALC):c.1912-1G>C	GALC	Single nucleotide variant (splice acceptor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 557290	NM_000153.4(GALC):c.1911+1_1911+5del	GALC	Deletion (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 554777	NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)	GALC	Deletion (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 555939	NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)	GALC (T610fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552101	NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)	GALC (L632P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 370392	NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)	GALC (Y630* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 557679	NM_000153.4(GALC):c.1884dup (p.Trp629fs)	GALC (W629fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 370366	NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)	GALC	Deletion (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 371136	NM_000153.4(GALC):c.1837G>T (p.Gly613Ter)	GALC (G613* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 550658	NM_000153.4(GALC):c.1835-1G>A	GALC	Single nucleotide variant (splice acceptor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 553570	NM_000153.4(GALC):c.1774G>T (p.Ala592Ser)	GALC (A592S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 557783	NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer)	GALC	Deletion (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 554688	NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)	GALC	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 188969	NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)	GALC (Y567S +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 370570	NM_000153.4(GALC):c.1670+1G>A	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 189113	NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)	GALC (G553R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30614	NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	GALC (D544N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188997	NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)	GALC (R531C +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 194322	NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)	GALC (E515K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551400	NM_000153.4(GALC):c.1519T>C (p.Phe507Leu)	GALC (F507L +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 188826	NM_000153.4(GALC):c.1472del (p.Lys491fs)	GALC (K468fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 431995	NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)	GALC (Y490N +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 371198	NM_000153.4(GALC):c.1426dup (p.Ser476fs)	GALC (S476fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 314749	NM_000153.4(GALC):c.1376A>G (p.His459Arg)	GALC (H459R +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 550503	NM_000153.4(GALC):c.1338+1G>C	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 551918	NM_000153.4(GALC):c.1273dup (p.Val425fs)	GALC (V399fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 371567	NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter)	GALC (V399* +2 more)	Insertion (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 370314	NM_000153.4(GALC):c.1273del (p.Val425fs)	GALC (V425fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 556049	NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)	GALC (R396Q +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 456712	NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	GALC (R396W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 555927	NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)	GALC (S392P +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 557896	NM_000153.4(GALC):c.1162-5_1162-4delinsC	GALC	Indel (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 553489	NM_000153.4(GALC):c.1162-6_1162-5delinsA	GALC	Indel (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 370148	NM_000153.4(GALC):c.1065G>A (p.Trp355Ter)	GALC (W355* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 371581	NM_000153.4(GALC):c.1021del (p.Val341fs)	GALC (V318fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370416	NM_000153.4(GALC):c.1012del (p.Glu338fs)	GALC (E312fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 314752	NM_000153.4(GALC):c.1006G>A (p.Val336Met)	GALC (V336M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 370842	NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer)	GALC	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
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 188767	NM_000153.4(GALC):c.955del (p.Tyr319fs)	GALC (Y319fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370631	NM_000153.4(GALC):c.952C>G (p.Pro318Ala)	GALC (P318A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370367	NM_000153.4(GALC):c.946C>T (p.Gln316Ter)	GALC (Q316* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 549982	NM_000153.4(GALC):c.927A>C (p.Leu309Phe)	GALC (L309F +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 551587	NM_000153.4(GALC):c.916G>A (p.Ala306Thr)	GALC (A306T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 551017	NM_000153.4(GALC):c.908+1G>T	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 280957	NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	GALC (S303F +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 551188	NM_000153.4(GALC):c.884A>C (p.Asn295Thr)	GALC (N295T +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 30619	NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	GALC (G286D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	Status epilepticus +20 more	GPathogenic/Likely pathogenic
Select item 551470	NM_000153.4(GALC):c.832A>G (p.Thr278Ala)	GALC (T278A +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 550321	NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer)	GALC	Deletion (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 265479	NM_000153.4(GALC):c.749T>C (p.Ile250Thr)	GALC (I250T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553651	NM_000153.4(GALC):c.691G>A (p.Glu231Lys)	GALC (E231K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 189024	NM_000153.4(GALC):c.658C>T (p.Arg220Ter)	GALC (R220* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
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 550678	NM_000153.4(GALC):c.621+5G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 550154	NM_000153.4(GALC):c.621+1G>A	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 550179	NM_000153.4(GALC):c.621G>A (p.Lys207=)	GALC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 189003	NM_000153.4(GALC):c.599C>A (p.Ser200Ter)	GALC (S200* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 552758	NM_000153.4(GALC):c.591dup (p.Glu198Ter)	GALC (E175* +2 more)	Duplication (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 551689	NM_000153.4(GALC):c.583A>G (p.Ile195Val)	GALC (I195V +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 556448	NM_000153.4(GALC):c.583-1G>C	GALC	Single nucleotide variant (splice acceptor variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 551773	NM_000153.4(GALC):c.582+5G>A	GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance
Select item 551990	NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del)	GALC	Deletion (inframe_deletion)	Galactosylceramide beta-galactosidase deficiency +1 more	GUncertain significance
Select item 371521	NM_000153.4(GALC):c.533G>A (p.Trp178Ter)	GALC (W178* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 552100	NM_000153.4(GALC):c.521del (p.Tyr174fs)	GALC (Y148fs +2 more)	Deletion (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 188860	NM_000153.4(GALC):c.489G>A (p.Trp163Ter)	GALC (W163* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 558185	NM_000153.4(GALC):c.486C>A (p.Asp162Glu)	GALC (D162E +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 371327	NM_000153.4(GALC):c.467_468dup (p.Leu157fs)	GALC (L157fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 314755	NM_000153.4(GALC):c.450A>T (p.Pro150=)	GALC	Single nucleotide variant (synonymous variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 370618	NM_000153.4(GALC):c.442+2T>G	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 553285	NM_000153.4(GALC):c.433dup (p.Thr145fs)	GALC (T145fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370670	NM_000153.4(GALC):c.415A>T (p.Lys139Ter)	GALC (K139* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 555281	NM_000153.4(GALC):c.411_413del (p.Lys139del)	GALC (K139del +2 more)	Deletion (inframe_deletion)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 188817	NM_000153.4(GALC):c.388G>A (p.Glu130Lys)	GALC (E130K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556087	NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)	GALC (Y129* +2 more)	Single nucleotide variant (nonsense)	Galactosylceramide beta-galactosidase deficiency	GPathogenic/Likely pathogenic
Select item 92504	NM_000153.4(GALC):c.349A>G (p.Met117Val)	GALC (M117V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370833	NM_000153.4(GALC):c.328+1G>T	GALC	Single nucleotide variant (splice donor variant)	Galactosylceramide beta-galactosidase deficiency	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 551097	NM_000153.4(GALC):c.251A>G (p.Asp84Gly)	GALC (D84G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 286538	NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)	GALC (I56fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553896	NM_000153.4(GALC):c.222C>G (p.Tyr74Ter)	GALC (Y74* +1 more)	Single nucleotide variant (nonsense +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 550136	NM_000153.4(GALC):c.206G>A (p.Arg69Gln)	GALC (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 195020	NM_000153.4(GALC):c.205C>T (p.Arg69Ter)	GALC (R69* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 552834	NM_000153.4(GALC):c.203C>T (p.Ser68Phe)	GALC (S68F +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 314759	NM_000153.4(GALC):c.195+15G>A	LOC130056217, GALC	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency	GConflicting classifications of pathogenicity
Select item 371332	NM_000153.4(GALC):c.190_195+9del	GALC, LOC130056217	Deletion (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 554787	NM_000153.4(GALC):c.195+1G>C	GALC, LOC130056217	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GLikely pathogenic
Select item 432166	NM_000153.4(GALC):c.195+1G>A	GALC, LOC130056217	Single nucleotide variant (intron variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 280959	NM_000153.4(GALC):c.195G>C (p.Gly65=)	GALC, LOC130056217	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 557770	NM_000153.4(GALC):c.157C>T (p.Arg53Trp)	GALC, LOC130056217 (R53W)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency	GUncertain significance

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