"Invitae"[submitter] AND "LOC129929837"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2870648	NM_006015.6(ARID1A):c.644A>G (p.Tyr215Cys)	ARID1A, LOC129929837 (Y215C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175215	NM_006015.6(ARID1A):c.649C>T (p.Pro217Ser)	ARID1A, LOC129929837 (P217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1931415	NM_006015.6(ARID1A):c.666C>T (p.Tyr222=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764989	NM_006015.6(ARID1A):c.668C>G (p.Pro223Arg)	ARID1A, LOC129929837 (P223R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870909	NM_006015.6(ARID1A):c.684C>A (p.Ala228=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105856	NM_006015.6(ARID1A):c.691C>T (p.Leu231=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968356	NM_006015.6(ARID1A):c.696C>T (p.Ser232=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019067	NM_006015.6(ARID1A):c.699C>G (p.Ser233=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967145	NM_006015.6(ARID1A):c.702G>A (p.Pro234=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941759	NM_006015.6(ARID1A):c.710G>C (p.Gly237Ala)	ARID1A, LOC129929837 (G237A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975211	NM_006015.6(ARID1A):c.711C>T (p.Gly237=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914956	NM_006015.6(ARID1A):c.720C>G (p.Gly240=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 210263	NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)	ARID1A, LOC129929837	Microsatellite (inframe_insertion)	ARID1A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1982352	NM_006015.6(ARID1A):c.729GGC[2] (p.Ala247del)	ARID1A, LOC129929837 (A247del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2782129	NM_006015.6(ARID1A):c.734C>T (p.Ala245Val)	ARID1A, LOC129929837 (A245V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722047	NM_006015.6(ARID1A):c.734C>A (p.Ala245Glu)	ARID1A, LOC129929837 (A245E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976045	NM_006015.6(ARID1A):c.757C>T (p.Pro253Ser)	ARID1A, LOC129929837 (P253S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1175604	NM_006015.6(ARID1A):c.759C>G (p.Pro253=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2795976	NM_006015.6(ARID1A):c.776C>T (p.Ala259Val)	ARID1A, LOC129929837 (A259V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999398	NM_006015.6(ARID1A):c.777C>T (p.Ala259=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1903441	NM_006015.6(ARID1A):c.778T>G (p.Ser260Ala)	ARID1A, LOC129929837 (S260A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2093640	NM_006015.6(ARID1A):c.780C>A (p.Ser260=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077174	NM_006015.6(ARID1A):c.783GTC[1] (p.Ser265del)	ARID1A, LOC129929837 (S265del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2129458	NM_006015.6(ARID1A):c.791C>T (p.Ser264Leu)	ARID1A, LOC129929837 (S264L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178584	NM_006015.6(ARID1A):c.810C>T (p.Arg270=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2773005	NM_006015.6(ARID1A):c.814G>A (p.Gly272Arg)	ARID1A, LOC129929837 (G272R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986467	NM_006015.6(ARID1A):c.816G>C (p.Gly272=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992608	NM_006015.6(ARID1A):c.824G>C (p.Gly275Ala)	ARID1A, LOC129929837 (G275A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916151	NM_006015.6(ARID1A):c.834_835delinsTT (p.Pro279Ser)	ARID1A, LOC129929837 (P279S)	Indel (missense variant)	not provided	GUncertain significance
Select item 1256709	NM_006015.6(ARID1A):c.837C>T (p.Pro279=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 434317	NM_006015.6(ARID1A):c.843G>A (p.Ala281=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2792682	NM_006015.6(ARID1A):c.854G>C (p.Gly285Ala)	ARID1A, LOC129929837 (G285A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448219	NM_006015.6(ARID1A):c.854G>A (p.Gly285Glu)	LOC129929837, ARID1A (G285E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494202	NM_006015.6(ARID1A):c.856A>G (p.Thr286Ala)	ARID1A, LOC129929837 (T286A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2810847	NM_006015.6(ARID1A):c.858T>A (p.Thr286=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089026	NM_006015.6(ARID1A):c.860C>T (p.Pro287Leu)	ARID1A, LOC129929837 (P287L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212594	NM_006015.6(ARID1A):c.865C>T (p.Pro289Ser)	ARID1A, LOC129929837 (P289S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2065633	NM_006015.6(ARID1A):c.873C>T (p.Ala291=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946236	NM_006015.6(ARID1A):c.879C>A (p.Pro293=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892552	NM_006015.6(ARID1A):c.882C>T (p.Thr294=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170803	NM_006015.6(ARID1A):c.897C>T (p.Leu299=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545259	NM_006015.6(ARID1A):c.900G>A (p.Thr300=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828737	NM_006015.6(ARID1A):c.902C>T (p.Ser301Leu)	ARID1A, LOC129929837 (S301L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792910	NM_006015.6(ARID1A):c.906C>T (p.Pro302=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928059	NM_006015.6(ARID1A):c.906C>A (p.Pro302=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914150	NM_006015.6(ARID1A):c.906C>G (p.Pro302=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420428	NM_006015.6(ARID1A):c.914C>T (p.Ala305Val)	ARID1A, LOC129929837 (A305V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498396	NM_006015.6(ARID1A):c.915C>T (p.Ala305=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1195536	NM_006015.6(ARID1A):c.927G>A (p.Gln309=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2975080	NM_006015.6(ARID1A):c.942C>T (p.Gly314=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981121	NM_006015.6(ARID1A):c.943G>A (p.Asp315Asn)	ARID1A, LOC129929837 (D315N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1704018	NM_006015.6(ARID1A):c.945C>T (p.Asp315=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2175153	NM_006015.6(ARID1A):c.949A>G (p.Ser317Gly)	ARID1A, LOC129929837 (S317G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693764	NM_006015.6(ARID1A):c.959C>G (p.Pro320Arg)	ARID1A, LOC129929837 (P320R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074797	NM_006015.6(ARID1A):c.977G>C (p.Gly326Ala)	ARID1A, LOC129929837 (G326A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755378	NM_006015.6(ARID1A):c.982G>A (p.Gly328Ser)	ARID1A, LOC129929837 (G328S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175764	NM_006015.6(ARID1A):c.997G>T (p.Ala333Ser)	ARID1A, LOC129929837 (A333S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2890776	NM_006015.6(ARID1A):c.1008T>C (p.Cys336=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179477	NM_006015.6(ARID1A):c.1011G>T (p.Trp337Cys)	ARID1A, LOC129929837 (W337C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193229	NM_006015.6(ARID1A):c.1029_1043dup (p.Ala349_Ser350insAlaAlaAlaAlaAla)	ARID1A, LOC129929837	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 434336	NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)	ARID1A, LOC129929837	Deletion (inframe_deletion)	not specified +4 more	GBenign/Likely benign
Select item 1989537	NM_006015.6(ARID1A):c.1029_1040dup (p.Ala349_Ser350insAlaAlaAlaAla)	ARID1A, LOC129929837	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 2885198	NM_006015.6(ARID1A):c.1035GGC[4] (p.Ala349_Ser350insAla)	ARID1A, LOC129929837	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2421865	NM_006015.6(ARID1A):c.1056G>C (p.Gly352=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003981	NM_006015.6(ARID1A):c.1074C>T (p.His358=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168850	NM_006015.6(ARID1A):c.1092C>T (p.Pro364=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2801078	NM_006015.6(ARID1A):c.1098C>T (p.Ser366=)	LOC129929837, ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911076	NM_006015.6(ARID1A):c.1107C>A (p.Gly369=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1341921	NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp)	ARID1A, LOC129929837 (R376W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2961759	NM_006015.6(ARID1A):c.1130C>T (p.Thr377Ile)	ARID1A, LOC129929837 (T377I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716185	NM_006015.6(ARID1A):c.1131C>T (p.Thr377=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 2966935	NM_006015.6(ARID1A):c.1132C>T (p.Pro378Ser)	ARID1A, LOC129929837 (P378S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769237	NM_006015.6(ARID1A):c.1137+7A>T	ARID1A, LOC129929837	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601592	NM_006015.6(ARID1A):c.1137+18dup	ARID1A, LOC129929837	Duplication (intron variant)	not provided	GBenign

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Items: 74