ClinVar for Gene (Select 55034) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188929	NM_017947.4(MOCOS):c.847C>T (p.Pro283Ser)	MOCOS (P283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188788	NM_017947.4(MOCOS):c.727G>A (p.Val243Met)	MOCOS (V243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188748	NM_017947.4(MOCOS):c.615C>A (p.Asn205Lys)	MOCOS (N205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188487	NM_017947.4(MOCOS):c.2462G>T (p.Gly821Val)	MOCOS (G821V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188400	NM_017947.4(MOCOS):c.2370G>C (p.Glu790Asp)	MOCOS (E790D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188350	NM_017947.4(MOCOS):c.227C>T (p.Thr76Ile)	MOCOS (T76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188338	NM_017947.4(MOCOS):c.2078G>T (p.Trp693Leu)	MOCOS (W693L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188278	NM_017947.4(MOCOS):c.2021G>A (p.Ser674Asn)	MOCOS (S674N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065846	NM_017947.4(MOCOS):c.2271-1G>A	MOCOS	Single nucleotide variant (splice acceptor variant)	Xanthinuria type II	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 3047033	NM_017947.4(MOCOS):c.1219-4G>T	MOCOS	Single nucleotide variant (intron variant)	MOCOS-related condition	GLikely benign
Select item 3008121	NM_017947.4(MOCOS):c.42del (p.Phe15fs)	MOCOS (F15fs)	Deletion (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 3001290	NM_017947.4(MOCOS):c.1018+17A>G	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2975216	NM_017947.4(MOCOS):c.204C>T (p.Phe68=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2965834	NM_017947.4(MOCOS):c.1740G>A (p.Gly580=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2904323	NM_017947.4(MOCOS):c.232+1G>A	MOCOS	Single nucleotide variant (splice donor variant)	Xanthinuria type II	GLikely pathogenic
Select item 2851820	NM_017947.4(MOCOS):c.1336-5_1336-4insAA	MOCOS	Insertion (intron variant)	Xanthinuria type II	GLikely benign
Select item 2850902	NM_017947.4(MOCOS):c.1257A>T (p.Arg419=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2835594	NM_017947.4(MOCOS):c.2268del (p.Ser757fs)	MOCOS (S757fs)	Deletion (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 2833333	NM_017947.4(MOCOS):c.1960+2_1960+3del	MOCOS	Deletion (splice donor variant)	Xanthinuria type II	GLikely pathogenic
Select item 2824585	NM_017947.4(MOCOS):c.300-13G>A	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2789865	NM_017947.4(MOCOS):c.603A>T (p.Pro201=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2740406	NM_017947.4(MOCOS):c.1219-5C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2739132	NM_017947.4(MOCOS):c.687G>A (p.Thr229=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2732574	NM_017947.4(MOCOS):c.2541T>C (p.His847=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2728921	NM_017947.4(MOCOS):c.1335+18C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2726794	NM_017947.4(MOCOS):c.627C>G (p.Val209=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2726226	NM_017947.4(MOCOS):c.567C>T (p.Asn189=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2724560	NM_017947.4(MOCOS):c.972T>C (p.Asp324=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2721530	NM_017947.4(MOCOS):c.2040-16C>G	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2712832	NM_017947.4(MOCOS):c.819C>T (p.Gly273=)	MOCOS	Single nucleotide variant (synonymous variant)	MOCOS-related condition +1 more	GLikely benign
Select item 2712758	NM_017947.4(MOCOS):c.1018+9A>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2706999	NM_017947.4(MOCOS):c.1311C>T (p.Asn437=)	MOCOS	Single nucleotide variant (synonymous variant)	MOCOS-related condition +1 more	GLikely benign
Select item 2696842	NM_017947.4(MOCOS):c.1019-15C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2648675	NM_017947.4(MOCOS):c.1466G>A (p.Arg489His)	MOCOS (R489H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2636897	NM_017947.4(MOCOS):c.493del (p.Ala164_Ile165insTer)	MOCOS	Deletion (nonsense)	MOCOS-related condition	GLikely pathogenic
Select item 2633841	NM_017947.4(MOCOS):c.2287G>T (p.Glu763Ter)	MOCOS (E763*)	Single nucleotide variant (nonsense)	MOCOS-related condition	GLikely pathogenic
Select item 2618006	NM_017947.4(MOCOS):c.98G>A (p.Gly33Asp)	MOCOS (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612222	NM_017947.4(MOCOS):c.782C>T (p.Ser261Phe)	MOCOS (S261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612155	NM_017947.4(MOCOS):c.2290G>C (p.Glu764Gln)	MOCOS (E764Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578224	NM_017947.4(MOCOS):c.2119_2122del (p.Gln707fs)	MOCOS (Q707fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2518354	NM_017947.4(MOCOS):c.754G>A (p.Ala252Thr)	MOCOS (A252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505047	NM_017947.4(MOCOS):c.2648A>G (p.His883Arg)	MOCOS (H883R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2494821	NM_017947.4(MOCOS):c.1315A>T (p.Met439Leu)	MOCOS (M439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492509	NM_017947.4(MOCOS):c.401T>C (p.Val134Ala)	MOCOS (V134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483203	NM_017947.4(MOCOS):c.1526G>A (p.Gly509Glu)	MOCOS (G509E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433778	NM_017947.4(MOCOS):c.296A>G (p.Tyr99Cys)	MOCOS (Y99C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433777	NM_017947.4(MOCOS):c.929C>T (p.Ser310Leu)	MOCOS (S310L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433776	NM_017947.4(MOCOS):c.1106C>A (p.Ala369Asp)	MOCOS (A369D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2426177	NM_017947.4(MOCOS):c.2514+6C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GUncertain significance
Select item 2404010	NM_017947.4(MOCOS):c.2633C>T (p.Pro878Leu)	MOCOS (P878L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390939	NM_017947.4(MOCOS):c.386A>C (p.Glu129Ala)	MOCOS (E129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386011	NM_017947.4(MOCOS):c.2060G>A (p.Gly687Glu)	MOCOS (G687E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375781	NM_017947.4(MOCOS):c.1673G>A (p.Cys558Tyr)	MOCOS (C558Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346482	NM_017947.4(MOCOS):c.677C>T (p.Pro226Leu)	MOCOS (P226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328629	NM_017947.4(MOCOS):c.163G>A (p.Ala55Thr)	MOCOS (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293796	NM_017947.4(MOCOS):c.1370T>C (p.Ile457Thr)	MOCOS (I457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284782	NM_017947.4(MOCOS):c.2449G>T (p.Asp817Tyr)	MOCOS (D817Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280372	NM_017947.4(MOCOS):c.1678G>A (p.Val560Ile)	MOCOS (V560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275564	NM_017947.4(MOCOS):c.1523C>G (p.Thr508Ser)	MOCOS (T508S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270851	NM_017947.4(MOCOS):c.1307G>A (p.Ser436Asn)	MOCOS (S436N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258972	NM_017947.4(MOCOS):c.91G>C (p.Gly31Arg)	MOCOS (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256275	NM_017947.4(MOCOS):c.715G>A (p.Ala239Thr)	MOCOS (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251780	NM_017947.4(MOCOS):c.1411T>C (p.Tyr471His)	MOCOS (Y471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250310	NM_017947.4(MOCOS):c.2512A>G (p.Lys838Glu)	MOCOS (K838E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206283	NM_017947.4(MOCOS):c.2402G>A (p.Arg801His)	MOCOS (R801H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2199898	NM_017947.4(MOCOS):c.462C>A (p.Ser154=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2193698	NM_017947.4(MOCOS):c.2002C>T (p.Arg668Trp)	MOCOS (R668W)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 2189828	NM_017947.4(MOCOS):c.89A>G (p.Tyr30Cys)	MOCOS (Y30C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2188541	NM_017947.4(MOCOS):c.1559T>C (p.Ile520Thr)	MOCOS (I520T)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2177101	NM_017947.4(MOCOS):c.738G>A (p.Ser246=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2176247	NM_017947.4(MOCOS):c.2320C>T (p.Arg774Cys)	MOCOS (R774C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2175235	NM_017947.4(MOCOS):c.838C>T (p.Arg280Cys)	MOCOS (R280C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2174886	NM_017947.4(MOCOS):c.481G>A (p.Val161Met)	MOCOS (V161M)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2173183	NM_017947.4(MOCOS):c.2003G>A (p.Arg668Gln)	MOCOS (R668Q)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2166218	NM_017947.4(MOCOS):c.1312G>C (p.Glu438Gln)	MOCOS (E438Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2162896	NM_017947.4(MOCOS):c.668G>A (p.Arg223Gln)	MOCOS (R223Q)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2161908	NM_017947.4(MOCOS):c.941+16G>C	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2160359	NM_017947.4(MOCOS):c.2608G>C (p.Glu870Gln)	MOCOS (E870Q)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2160062	NM_017947.4(MOCOS):c.289G>T (p.Val97Leu)	MOCOS (V97L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2159636	NM_017947.4(MOCOS):c.736T>C (p.Ser246Pro)	MOCOS (S246P)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 2155038	NM_017947.4(MOCOS):c.979G>A (p.Ala327Thr)	MOCOS (A327T)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2153639	NM_017947.4(MOCOS):c.1820A>G (p.Asn607Ser)	MOCOS (N607S)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 2153025	NM_017947.4(MOCOS):c.8G>C (p.Gly3Ala)	MOCOS (G3A)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2151905	NM_017947.4(MOCOS):c.788A>G (p.Tyr263Cys)	MOCOS (Y263C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2149339	NM_017947.4(MOCOS):c.1018+20C>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2142287	NM_017947.4(MOCOS):c.693G>A (p.Gly231=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2140099	NM_017947.4(MOCOS):c.1010G>A (p.Arg337His)	MOCOS (R337H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2127039	NM_017947.4(MOCOS):c.739C>G (p.Pro247Ala)	MOCOS (P247A)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2124226	NM_017947.4(MOCOS):c.1953A>G (p.Lys651=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2122239	NM_017947.4(MOCOS):c.2033C>T (p.Ala678Val)	MOCOS (A678V)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2089055	NM_017947.4(MOCOS):c.2416G>A (p.Gly806Arg)	MOCOS (G806R)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2085322	NM_017947.4(MOCOS):c.1809G>A (p.Trp603Ter)	MOCOS (W603*)	Single nucleotide variant (nonsense)	Xanthinuria type II	GPathogenic
Select item 2082276	NM_017947.4(MOCOS):c.7G>C (p.Gly3Arg)	MOCOS (G3R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2081555	NM_017947.4(MOCOS):c.2164+1del	MOCOS	Deletion (splice donor variant)	Xanthinuria type II	GLikely pathogenic
Select item 2074984	NM_017947.4(MOCOS):c.517A>G (p.Arg173Gly)	MOCOS (R173G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2072695	NM_017947.4(MOCOS):c.1218+1G>C	MOCOS	Single nucleotide variant (splice donor variant)	Xanthinuria type II	GLikely pathogenic
Select item 2070844	NM_017947.4(MOCOS):c.547C>T (p.Arg183Cys)	MOCOS (R183C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2067325	NM_017947.4(MOCOS):c.899C>T (p.Ala300Val)	MOCOS (A300V)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance

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