"Ambry Genetics"[submitter] AND "ARID1A"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314317	NM_006015.6(ARID1A):c.38T>G (p.Leu13Arg)	ARID1A (L13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 591469	NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 434329	NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2250994	NM_006015.6(ARID1A):c.91C>G (p.Gln31Glu)	ARID1A (Q31E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533192	NM_006015.6(ARID1A):c.187G>T (p.Val63Leu)	ARID1A (V63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274873	NM_006015.6(ARID1A):c.202C>T (p.Pro68Ser)	ARID1A (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296757	NM_006015.6(ARID1A):c.289G>C (p.Glu97Gln)	ARID1A (E97Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1897704	NM_006015.6(ARID1A):c.317A>G (p.Asn106Ser)	ARID1A (N106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2163161	NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser)	ARID1A (P109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2220048	NM_006015.6(ARID1A):c.374G>T (p.Gly125Val)	ARID1A (G125V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129390	NM_006015.6(ARID1A):c.464G>T (p.Gly155Val)	ARID1A (G155V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218875	NM_006015.6(ARID1A):c.497C>T (p.Ala166Val)	ARID1A (A166V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1337961	NM_006015.6(ARID1A):c.587C>T (p.Ala196Val)	ARID1A (A196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1750666	NM_006015.6(ARID1A):c.594C>T (p.Pro198=)	ARID1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 2228572	NM_006015.6(ARID1A):c.658A>C (p.Ser220Arg)	ARID1A, LOC129929837 (S220R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558873	NM_006015.6(ARID1A):c.667C>A (p.Pro223Thr)	ARID1A, LOC129929837 (P223T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528786	NM_006015.6(ARID1A):c.740C>T (p.Ala247Val)	ARID1A, LOC129929837 (A247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2976045	NM_006015.6(ARID1A):c.757C>T (p.Pro253Ser)	ARID1A, LOC129929837 (P253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1763814	NM_006015.6(ARID1A):c.854dup (p.Thr286fs)	ARID1A, LOC129929837 (T286fs)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3129393	NM_006015.6(ARID1A):c.874A>C (p.Thr292Pro)	ARID1A, LOC129929837 (T292P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986045	NM_006015.6(ARID1A):c.895C>T (p.Leu299Phe)	ARID1A, LOC129929837 (L299F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1767970	NM_006015.6(ARID1A):c.971del (p.Gly324fs)	ARID1A, LOC129929837 (G324fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3314296	NM_006015.6(ARID1A):c.985C>T (p.Pro329Ser)	ARID1A, LOC129929837 (P329S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434336	NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)	ARID1A, LOC129929837	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2493161	NM_006015.6(ARID1A):c.1063C>A (p.Gln355Lys)	ARID1A, LOC129929837 (Q355K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129387	NM_006015.6(ARID1A):c.1071C>G (p.Ser357Arg)	ARID1A, LOC129929837 (S357R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760779	NM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter)	ARID1A (Y417*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2971635	NM_006015.6(ARID1A):c.1313C>T (p.Ala438Val)	ARID1A (A438V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1577571	NM_006015.6(ARID1A):c.1529A>C (p.Gln510Pro)	ARID1A (Q510P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2253675	NM_006015.6(ARID1A):c.1649C>G (p.Pro550Arg)	ARID1A (P550R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2540517	NM_006015.6(ARID1A):c.1844C>T (p.Ala615Val)	ARID1A (A615V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129388	NM_006015.6(ARID1A):c.1951A>G (p.Met651Val)	ARID1A (M651V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232066	NM_006015.6(ARID1A):c.1952T>C (p.Met651Thr)	ARID1A (M651T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1261342	NM_006015.6(ARID1A):c.2074A>G (p.Ile692Val)	ARID1A (I692V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1325947	NM_006015.6(ARID1A):c.2091G>A (p.Pro697=)	ARID1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 434338	NM_006015.6(ARID1A):c.2204G>A (p.Ser735Asn)	ARID1A (S735N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1389171	NM_006015.6(ARID1A):c.2237T>A (p.Ile746Asn)	ARID1A (I746N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229681	NM_006015.6(ARID1A):c.2267A>G (p.Asn756Ser)	ARID1A (N756S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259568	NM_006015.6(ARID1A):c.2279C>G (p.Pro760Arg)	ARID1A (P760R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274328	NM_006015.6(ARID1A):c.2309C>T (p.Ala770Val)	ARID1A (A770V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249035	NM_006015.6(ARID1A):c.2318C>T (p.Pro773Leu)	ARID1A (P773L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2502794	NM_006015.6(ARID1A):c.2345A>G (p.His782Arg)	ARID1A (H782R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2281894	NM_006015.6(ARID1A):c.2500C>T (p.Pro834Ser)	ARID1A (P834S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2916164	NM_006015.6(ARID1A):c.2516G>T (p.Gly839Val)	ARID1A (G839V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3314285	NM_006015.6(ARID1A):c.2561C>T (p.Pro854Leu)	ARID1A (P854L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211626	NM_006015.6(ARID1A):c.2571G>T (p.Arg857Ser)	ARID1A (R857S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129389	NM_006015.6(ARID1A):c.2589G>A (p.Met863Ile)	ARID1A (M863I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268837	NM_006015.6(ARID1A):c.2614A>G (p.Met872Val)	ARID1A (M872V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1203777	NM_006015.6(ARID1A):c.2698G>A (p.Ala900Thr)	ARID1A (A900T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1190267	NM_006015.6(ARID1A):c.2881A>C (p.Met961Leu)	ARID1A (M961L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2460541	NM_006015.6(ARID1A):c.2948A>G (p.Asn983Ser)	ARID1A (N983S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171448	NM_006015.6(ARID1A):c.2971A>T (p.Thr991Ser)	ARID1A (T991S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2295537	NM_006015.6(ARID1A):c.3263C>G (p.Ala1088Gly)	ARID1A (A1088G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1730239	NM_006015.6(ARID1A):c.3325C>T (p.Arg1109Trp)	ARID1A (R1109W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539230	NM_006015.6(ARID1A):c.3341C>G (p.Pro1114Arg)	ARID1A (P1114R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521449	NM_006015.6(ARID1A):c.3407C>T (p.Ala1136Val)	ARID1A, LOC126805670 (A1136V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2220047	NM_006015.6(ARID1A):c.3560T>C (p.Ile1187Thr)	ARID1A, LOC126805670 (I1187T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258896	NM_006015.6(ARID1A):c.3613A>G (p.Met1205Val)	ARID1A, LOC126805670 (M1205V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2614234	NM_006015.6(ARID1A):c.3758A>G (p.Asn1253Ser)	ARID1A (N1253S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2321563	NM_006015.6(ARID1A):c.3793G>A (p.Gly1265Ser)	ARID1A (G1265S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1735301	NM_006015.6(ARID1A):c.3826C>T (p.Arg1276Ter)	ARID1A (R1276*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic OLikely oncogenic
Select item 2364559	NM_006015.6(ARID1A):c.3920C>T (p.Pro1307Leu)	ARID1A (P1307L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2333908	NM_006015.6(ARID1A):c.3961C>T (p.Pro1321Ser)	ARID1A (P1321S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1261038	NM_006015.6(ARID1A):c.4081A>G (p.Met1361Val)	ARID1A (M1361V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2294103	NM_006015.6(ARID1A):c.4403C>T (p.Pro1468Leu)	ARID1A (P1468L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306678	NM_006015.6(ARID1A):c.4586C>T (p.Thr1529Ile)	ARID1A (T1529I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 623678	NM_006015.6(ARID1A):c.4669C>G (p.Pro1557Ala)	ARID1A (P1557A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2148349	NM_006015.6(ARID1A):c.4678C>G (p.Pro1560Ala)	ARID1A (P1560A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2478960	NM_006015.6(ARID1A):c.4745T>G (p.Ile1582Ser)	ARID1A (I1582S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603856	NM_006015.6(ARID1A):c.4796C>T (p.Thr1599Ile)	ARID1A (T1382I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380137	NM_006015.6(ARID1A):c.4991T>C (p.Ile1664Thr)	ARID1A (I1447T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521818	NM_006015.6(ARID1A):c.4993G>A (p.Gly1665Arg)	ARID1A (G1665R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218051	NM_006015.6(ARID1A):c.5149G>A (p.Val1717Ile)	ARID1A (V1717I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377278	NM_006015.6(ARID1A):c.5228C>T (p.Thr1743Met)	ARID1A (T1743M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2141585	NM_006015.6(ARID1A):c.5266C>T (p.Pro1756Ser)	ARID1A (P1539S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1746859	NM_006015.6(ARID1A):c.5329G>T (p.Glu1777Ter)	ARID1A (E1560* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 521627	NM_006015.6(ARID1A):c.5344G>C (p.Val1782Leu)	ARID1A (V1782L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2126273	NM_006015.6(ARID1A):c.5432A>G (p.Lys1811Arg)	ARID1A (K1811R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2231763	NM_006015.6(ARID1A):c.5448C>G (p.Ile1816Met)	ARID1A (I1599M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1217160	NM_006015.6(ARID1A):c.5449G>A (p.Val1817Ile)	ARID1A (V1600I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 434344	NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val)	ARID1A (L1831V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2229116	NM_006015.6(ARID1A):c.5533C>T (p.Arg1845Trp)	ARID1A (R1628W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2484992	NM_006015.6(ARID1A):c.5633C>G (p.Pro1878Arg)	ARID1A (P1661R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521732	NM_006015.6(ARID1A):c.5647A>T (p.Thr1883Ser)	ARID1A (T1883S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2479287	NM_006015.6(ARID1A):c.5786G>A (p.Ser1929Asn)	ARID1A (S1712N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985412	NM_006015.6(ARID1A):c.5976_5981dup (p.Phe1993_Val1994dup)	ARID1A	Duplication (inframe_insertion)	Inborn genetic diseases	GLikely pathogenic
Select item 521265	NM_006015.6(ARID1A):c.5989A>G (p.Asn1997Asp)	ARID1A (N1997D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493647	NM_006015.6(ARID1A):c.6075G>C (p.Lys2025Asn)	ARID1A (K1808N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316378	NM_006015.6(ARID1A):c.6097A>G (p.Lys2033Glu)	ARID1A (K1816E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314306	NM_006015.6(ARID1A):c.6217C>G (p.Leu2073Val)	ARID1A (L1856V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225081	NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)	ARID1A (E2078K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 520930	NM_006015.6(ARID1A):c.6399C>G (p.Asp2133Glu)	ARID1A (D2133E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444600	NM_006015.6(ARID1A):c.6548G>A (p.Arg2183His)	ARID1A (R1966H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806764	NM_006015.6(ARID1A):c.6613G>A (p.Ala2205Thr)	ARID1A (A1988T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2891479	NM_006015.6(ARID1A):c.6638C>T (p.Ala2213Val)	ARID1A (A2213V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2305685	NM_006015.6(ARID1A):c.6661C>A (p.Pro2221Thr)	ARID1A (P2004T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129392	NM_006015.6(ARID1A):c.6758T>C (p.Leu2253Pro)	ARID1A (L2036P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 98