ClinVar for Gene (Select 27304) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357353	NM_014484.5(MOCS3):c.214C>T (p.Leu72=)	MOCS3	Single nucleotide variant (synonymous variant)	MOCS3-related disorder	GLikely benign
Select item 3295512	NM_014484.5(MOCS3):c.188A>G (p.Tyr63Cys)	MOCS3 (Y63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3190670	NM_014484.5(MOCS3):c.589G>T (p.Gly197Cys)	MOCS3 (G197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190382	NM_014484.5(MOCS3):c.290T>C (p.Leu97Pro)	MOCS3 (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034522	NM_014484.5(MOCS3):c.*7T>G	MOCS3	Single nucleotide variant (3 prime UTR variant)	MOCS3-related disorder	GLikely benign
Select item 3021058	NM_014484.5(MOCS3):c.1286C>T (p.Ser429Leu)	MOCS3 (S429L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018101	NM_014484.5(MOCS3):c.882G>T (p.Arg294Ser)	MOCS3 (R294S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018100	NM_014484.5(MOCS3):c.444C>T (p.Leu148=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015204	NM_014484.5(MOCS3):c.615C>T (p.Ala205=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3009971	NM_014484.5(MOCS3):c.193C>T (p.Arg65Trp)	MOCS3 (R65W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006567	NM_014484.5(MOCS3):c.674G>C (p.Cys225Ser)	MOCS3 (C225S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005576	NM_014484.5(MOCS3):c.486G>T (p.Thr162=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997325	NM_014484.5(MOCS3):c.777A>G (p.Glu259=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997159	NM_014484.5(MOCS3):c.733C>T (p.Leu245Phe)	MOCS3 (L245F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997158	NM_014484.5(MOCS3):c.114G>A (p.Pro38=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993670	NM_014484.5(MOCS3):c.27C>T (p.Ala9=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983953	NM_014484.5(MOCS3):c.865C>G (p.Arg289Gly)	MOCS3 (R289G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980063	NM_014484.5(MOCS3):c.1074T>C (p.Pro358=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979712	NM_014484.5(MOCS3):c.54G>A (p.Glu18=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2977576	NM_014484.5(MOCS3):c.1224T>G (p.Ile408Met)	MOCS3 (I408M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968404	NM_014484.5(MOCS3):c.992G>T (p.Ser331Ile)	MOCS3 (S331I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966129	NM_014484.5(MOCS3):c.619C>G (p.Arg207Gly)	MOCS3 (R207G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959714	NM_014484.5(MOCS3):c.918G>C (p.Val306=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956820	NM_014484.5(MOCS3):c.923A>G (p.Asp308Gly)	MOCS3 (D308G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904660	NM_014484.5(MOCS3):c.1A>C (p.Met1Leu)	MOCS3 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2902157	NM_014484.5(MOCS3):c.1139G>A (p.Arg380His)	MOCS3 (R380H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883707	NM_014484.5(MOCS3):c.153G>A (p.Pro51=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883303	NM_014484.5(MOCS3):c.1080G>A (p.Val360=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880694	NM_014484.5(MOCS3):c.8C>T (p.Ser3Phe)	MOCS3 (S3F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871922	NM_014484.5(MOCS3):c.613G>A (p.Ala205Thr)	MOCS3 (A205T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868931	NM_014484.5(MOCS3):c.555T>G (p.Thr185=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866208	NM_014484.5(MOCS3):c.1210G>A (p.Ala404Thr)	MOCS3 (A404T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863419	NM_014484.5(MOCS3):c.1158G>A (p.Leu386=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863197	NM_014484.5(MOCS3):c.1179C>T (p.Ile393=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2861958	NM_014484.5(MOCS3):c.149C>A (p.Pro50Gln)	MOCS3 (P50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860835	NM_014484.5(MOCS3):c.1041T>C (p.Ser347=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842938	NM_014484.5(MOCS3):c.413C>G (p.Ala138Gly)	MOCS3 (A138G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841619	NM_014484.5(MOCS3):c.661C>T (p.Pro221Ser)	MOCS3 (P221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839545	NM_014484.5(MOCS3):c.308C>A (p.Ala103Glu)	MOCS3 (A103E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831772	NM_014484.5(MOCS3):c.987A>C (p.Leu329=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2830855	NM_014484.5(MOCS3):c.462C>A (p.Cys154Ter)	MOCS3 (C154*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2825026	NM_014484.5(MOCS3):c.640G>A (p.Val214Ile)	MOCS3 (V214I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824126	NM_014484.5(MOCS3):c.276del (p.Leu93fs)	MOCS3 (L93fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2820858	NM_014484.5(MOCS3):c.392C>T (p.Ala131Val)	MOCS3 (A131V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810850	NM_014484.5(MOCS3):c.471C>G (p.Tyr157Ter)	MOCS3 (Y157*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2808269	NM_014484.5(MOCS3):c.643T>C (p.Tyr215His)	MOCS3 (Y215H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2807178	NM_014484.5(MOCS3):c.985C>T (p.Leu329=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2804660	NM_014484.5(MOCS3):c.1175C>T (p.Ala392Val)	MOCS3 (A392V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804374	NM_014484.5(MOCS3):c.887A>G (p.Asp296Gly)	MOCS3 (D296G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798050	NM_014484.5(MOCS3):c.1285T>C (p.Ser429Pro)	MOCS3 (S429P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794119	NM_014484.5(MOCS3):c.412G>A (p.Ala138Thr)	MOCS3 (A138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790530	NM_014484.5(MOCS3):c.1045G>A (p.Ala349Thr)	MOCS3 (A349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788506	NM_014484.5(MOCS3):c.907C>T (p.Arg303Trp)	MOCS3 (R303W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786397	NM_014484.5(MOCS3):c.803G>A (p.Gly268Asp)	MOCS3 (G268D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769057	NM_014484.5(MOCS3):c.1004G>T (p.Arg335Leu)	MOCS3 (R335L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761668	NM_014484.5(MOCS3):c.1006_1007delinsTC (p.Val336Ser)	MOCS3 (V336S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2758131	NM_014484.5(MOCS3):c.476A>G (p.Gln159Arg)	MOCS3 (Q159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753877	NM_014484.5(MOCS3):c.485C>A (p.Thr162Lys)	MOCS3 (T162K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748559	NM_014484.5(MOCS3):c.1174G>T (p.Ala392Ser)	MOCS3 (A392S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740148	NM_014484.5(MOCS3):c.11G>A (p.Arg4Gln)	MOCS3 (R4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739459	NM_014484.5(MOCS3):c.85G>A (p.Ala29Thr)	MOCS3 (A29T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2726436	NM_014484.5(MOCS3):c.1182G>A (p.Trp394Ter)	MOCS3 (W394*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2692698	NM_014484.5(MOCS3):c.90G>C (p.Ser30=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2681407	NM_014484.5(MOCS3):c.569A>T (p.Asn190Ile)	MOCS3 (N190I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2681406	NM_014484.5(MOCS3):c.576A>T (p.Ala192=)	MOCS3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2536429	NM_014484.5(MOCS3):c.1235G>A (p.Cys412Tyr)	MOCS3 (C412Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490877	NM_014484.5(MOCS3):c.1143G>T (p.Arg381Ser)	MOCS3 (R381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480486	NM_014484.5(MOCS3):c.478G>A (p.Ala160Thr)	MOCS3 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424782	NC_000020.10:g.(?_49507942)_(49576762_?)del	ADNP, DPM1 +1 more	Deletion	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 2420732	NM_014484.5(MOCS3):c.756G>T (p.Leu252=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420717	NM_014484.5(MOCS3):c.1117A>T (p.Ile373Phe)	MOCS3 (I373F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419322	NM_014484.5(MOCS3):c.588G>A (p.Ala196=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413556	NM_014484.5(MOCS3):c.76C>T (p.Gln26Ter)	MOCS3 (Q26*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2340417	NM_014484.5(MOCS3):c.723C>G (p.Asp241Glu)	MOCS3 (D241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287790	NM_014484.5(MOCS3):c.529G>A (p.Ala177Thr)	MOCS3 (A177T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2284828	NM_014484.5(MOCS3):c.931G>T (p.Asp311Tyr)	MOCS3 (D311Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240246	NM_014484.5(MOCS3):c.573C>G (p.Asp191Glu)	MOCS3 (D191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215394	NM_014484.5(MOCS3):c.560A>G (p.Tyr187Cys)	MOCS3 (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188871	NM_014484.5(MOCS3):c.293C>T (p.Ala98Val)	MOCS3 (A98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184941	NM_014484.5(MOCS3):c.470A>C (p.Tyr157Ser)	MOCS3 (Y157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182155	NM_014484.5(MOCS3):c.726C>T (p.Gly242=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180344	NM_014484.5(MOCS3):c.934dup (p.Tyr312fs)	MOCS3 (Y312fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2171298	NM_014484.5(MOCS3):c.886G>T (p.Asp296Tyr)	MOCS3 (D296Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2113938	NM_014484.5(MOCS3):c.1247A>C (p.Asn416Thr)	MOCS3 (N416T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111376	NM_014484.5(MOCS3):c.350T>C (p.Val117Ala)	MOCS3 (V117A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105416	NM_014484.5(MOCS3):c.1006G>A (p.Val336Ile)	MOCS3 (V336I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095706	NM_014484.5(MOCS3):c.809_810del (p.Ser270fs)	MOCS3 (S270fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2094658	NM_014484.5(MOCS3):c.776A>G (p.Glu259Gly)	MOCS3 (E259G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093879	NM_014484.5(MOCS3):c.472A>T (p.Thr158Ser)	MOCS3 (T158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086230	NM_014484.5(MOCS3):c.219C>T (p.Gly73=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076146	NM_014484.5(MOCS3):c.8C>G (p.Ser3Cys)	MOCS3 (S3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071057	NM_014484.5(MOCS3):c.1253C>T (p.Ser418Leu)	MOCS3 (S418L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060402	NM_014484.5(MOCS3):c.1039T>G (p.Ser347Ala)	MOCS3 (S347A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2049721	NM_014484.5(MOCS3):c.706G>A (p.Val236Met)	MOCS3 (V236M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039891	NM_014484.5(MOCS3):c.1252T>G (p.Ser418Ala)	MOCS3 (S418A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024976	NM_014484.5(MOCS3):c.196C>T (p.Gln66Ter)	MOCS3 (Q66*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2013055	NM_014484.5(MOCS3):c.897T>C (p.Ala299=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2012540	NM_014484.5(MOCS3):c.170G>T (p.Arg57Leu)	MOCS3 (R57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005983	NM_014484.5(MOCS3):c.1263C>T (p.Ala421=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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