"PreventionGenetics, part of Exact Sciences"[submitter] AND "ARID1A"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2711851	NM_006015.6(ARID1A):c.36C>T (p.Ser12=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder +1 more	GBenign/Likely benign
Select item 591469	NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 434329	NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	ARID1A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 770843	NM_006015.6(ARID1A):c.48GCC[4] (p.Pro21del)	ARID1A (P21del)	Microsatellite (inframe_deletion)	ARID1A-related disorder +1 more	GBenign/Likely benign
Select item 3030675	NM_006015.6(ARID1A):c.81C>T (p.Ala27=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 2189450	NM_006015.6(ARID1A):c.148A>G (p.Met50Val)	ARID1A (M50V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2634102	NM_006015.6(ARID1A):c.161C>T (p.Ala54Val)	ARID1A (A54V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1250824	NM_006015.6(ARID1A):c.162C>T (p.Ala54=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3051299	NM_006015.6(ARID1A):c.196C>T (p.Pro66Ser)	ARID1A (P66S)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GLikely benign
Select item 434330	NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup)	ARID1A	Microsatellite (inframe_insertion)	ARID1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1254549	NM_006015.6(ARID1A):c.250_267del (p.Gly84_Gly89del)	ARID1A	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 434313	NM_006015.6(ARID1A):c.264C>T (p.Ala88=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder +2 more	GBenign/Likely benign
Select item 434332	NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser)	ARID1A (P120S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1272255	NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser)	ARID1A (G125S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1186769	NM_006015.6(ARID1A):c.405T>G (p.Pro135=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder +1 more	GBenign/Likely benign
Select item 1181346	NM_006015.6(ARID1A):c.456A>G (p.Gln152=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder +1 more	GBenign/Likely benign
Select item 3053592	NM_006015.6(ARID1A):c.457C>T (p.Pro153Ser)	ARID1A (P153S)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2726522	NM_006015.6(ARID1A):c.474G>C (p.Pro158=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 434333	NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup)	ARID1A	Microsatellite (inframe_insertion)	ARID1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2729461	NM_006015.6(ARID1A):c.501C>T (p.Ala167=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3061664	NM_006015.6(ARID1A):c.548C>T (p.Ala183Val)	ARID1A (A183V)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 1320102	NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)	ARID1A (Q199*)	Single nucleotide variant (nonsense)	ARID1A-related disorder +1 more	GLikely pathogenic
Select item 210263	NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)	ARID1A, LOC129929837	Microsatellite (inframe_insertion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3045999	NM_006015.6(ARID1A):c.795C>T (p.Ser265=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 3030453	NM_006015.6(ARID1A):c.909C>G (p.Ser303Arg)	ARID1A, LOC129929837 (S303R)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2629405	NM_006015.6(ARID1A):c.994A>G (p.Met332Val)	ARID1A, LOC129929837 (M332V)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 434336	NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)	ARID1A, LOC129929837	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 14 +4 more	GBenign/Likely benign
Select item 3032967	NM_006015.6(ARID1A):c.1028C>A (p.Ala343Glu)	ARID1A, LOC129929837 (A343E)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2634774	NM_006015.6(ARID1A):c.1133C>T (p.Pro378Leu)	ARID1A, LOC129929837 (P378L)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2634789	NM_006015.6(ARID1A):c.1135C>T (p.Gln379Ter)	ARID1A, LOC129929837 (Q379*)	Single nucleotide variant (nonsense)	ARID1A-related disorder	GLikely pathogenic
Select item 2637029	NM_006015.6(ARID1A):c.1163G>A (p.Gly388Asp)	ARID1A (G388D)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2581868	NM_006015.6(ARID1A):c.1275G>T (p.Gln425His)	ARID1A (Q425H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1577571	NM_006015.6(ARID1A):c.1529A>C (p.Gln510Pro)	ARID1A (Q510P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 722599	NM_006015.6(ARID1A):c.1597C>T (p.Pro533Ser)	ARID1A (P533S)	Single nucleotide variant (missense variant)	ARID1A-related disorder +1 more	GBenign/Likely benign
Select item 3061349	NM_006015.6(ARID1A):c.1640G>C (p.Ser547Thr)	ARID1A (S547T)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 1028989	NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu)	ARID1A (S571L)	Single nucleotide variant (missense variant)	ARID1A-related disorder +1 more	GUncertain significance
Select item 1286796	NM_006015.6(ARID1A):c.1716G>A (p.Thr572=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2162804	NM_006015.6(ARID1A):c.1734G>A (p.Ala578=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2182160	NM_006015.6(ARID1A):c.1791C>T (p.Phe597=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2632115	NM_006015.6(ARID1A):c.1883T>C (p.Met628Thr)	ARID1A (M628T)	Single nucleotide variant (missense variant)	ARID1A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2628895	NM_006015.6(ARID1A):c.2109C>A (p.Pro703=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3061573	NM_006015.6(ARID1A):c.2150C>T (p.Ala717Val)	ARID1A (A717V)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3052260	NM_006015.6(ARID1A):c.2195A>G (p.Gln732Arg)	ARID1A (Q732R)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2631414	NM_006015.6(ARID1A):c.2269C>G (p.Pro757Ala)	ARID1A (P757A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1183815	NM_006015.6(ARID1A):c.2298G>A (p.Gln766=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder +1 more	GBenign/Likely benign
Select item 2155226	NM_006015.6(ARID1A):c.2328T>C (p.Pro776=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1920580	NM_006015.6(ARID1A):c.2419+10_2419+21del	ARID1A	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2631411	NM_006015.6(ARID1A):c.2450C>T (p.Ala817Val)	ARID1A (A817V)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2632797	NM_006015.6(ARID1A):c.2492G>A (p.Gly831Asp)	ARID1A (G831D)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2630953	NM_006015.6(ARID1A):c.2534C>A (p.Pro845His)	ARID1A (P845H)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3061518	NM_006015.6(ARID1A):c.2621A>G (p.Asn874Ser)	ARID1A (N874S)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GLikely benign
Select item 2955338	NM_006015.6(ARID1A):c.2790T>C (p.Tyr930=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1291562	NM_006015.6(ARID1A):c.3046G>A (p.Gly1016Ser)	ARID1A (G1016S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3029356	NM_006015.6(ARID1A):c.3159C>T (p.Arg1053=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 1196223	NM_006015.6(ARID1A):c.3199-25C>T	ARID1A	Single nucleotide variant (intron variant)	ARID1A-related disorder +1 more	GLikely benign
Select item 3044110	NM_006015.6(ARID1A):c.3231A>G (p.Ala1077=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 2073050	NM_006015.6(ARID1A):c.3242A>G (p.Asn1081Ser)	ARID1A (N1081S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2632518	NM_006015.6(ARID1A):c.3337C>T (p.Pro1113Ser)	ARID1A (P1113S)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 434322	NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=)	LOC126805670, ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +3 more	GConflicting classifications of pathogenicity
Select item 3052958	NM_006015.6(ARID1A):c.3567T>C (p.Asp1189=)	ARID1A, LOC126805670	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 434323	NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +3 more	GBenign/Likely benign
Select item 3058243	NM_006015.6(ARID1A):c.3769G>A (p.Gly1257Ser)	ARID1A (G1257S)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 771687	NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder +2 more	GBenign/Likely benign
Select item 2633987	NM_006015.6(ARID1A):c.3858_3859insT (p.Arg1287Ter)	ARID1A (R1287*)	Insertion (nonsense)	ARID1A-related disorder	GPathogenic
Select item 3051423	NM_006015.6(ARID1A):c.3866+8T>A	ARID1A	Single nucleotide variant (intron variant)	ARID1A-related disorder	GLikely benign
Select item 1906466	NM_006015.6(ARID1A):c.4062C>T (p.Phe1354=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053663	NM_006015.6(ARID1A):c.4356G>A (p.Gln1452=)	ARID1A	Single nucleotide variant (synonymous variant +1 more)	ARID1A-related disorder	GLikely benign
Select item 3030216	NM_006015.6(ARID1A):c.4426A>G (p.Met1476Val)	ARID1A (M1476V)	Single nucleotide variant (missense variant +1 more)	ARID1A-related disorder	GUncertain significance
Select item 3039152	NM_006015.6(ARID1A):c.4446C>T (p.Gly1482=)	ARID1A	Single nucleotide variant (synonymous variant +1 more)	ARID1A-related disorder	GLikely benign
Select item 1265878	NM_006015.6(ARID1A):c.4542G>A (p.Thr1514=)	ARID1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2635179	NM_006015.6(ARID1A):c.4729A>G (p.Ser1577Gly)	ARID1A (S1577G)	Single nucleotide variant (missense variant +1 more)	ARID1A-related disorder	GUncertain significance
Select item 1912784	NM_006015.6(ARID1A):c.4818C>T (p.Phe1606=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1256938	NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 434326	NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +3 more	GBenign/Likely benign
Select item 2888884	NM_006015.6(ARID1A):c.5125-6T>C	ARID1A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3058573	NM_006015.6(ARID1A):c.5199G>A (p.Glu1733=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 133551	NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)	ARID1A (E1779G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +3 more	GBenign/Likely benign
Select item 3058244	NM_006015.6(ARID1A):c.5544G>A (p.Gly1848=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 2628650	NM_006015.6(ARID1A):c.5606G>A (p.Arg1869Gln)	ARID1A (R1652Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1260649	NM_006015.6(ARID1A):c.5615C>T (p.Ala1872Val)	ARID1A (A1655V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3030106	NM_006015.6(ARID1A):c.5624dup (p.Pro1876fs)	ARID1A (P1659fs +1 more)	Duplication (frameshift variant)	ARID1A-related disorder	GPathogenic
Select item 2630539	NM_006015.6(ARID1A):c.5623C>T (p.Pro1875Ser)	ARID1A (P1658S +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 975334	NM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln)	ARID1A (R1662Q +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder +1 more	GLikely benign
Select item 2631269	NM_006015.6(ARID1A):c.5639A>G (p.Lys1880Arg)	ARID1A (K1663R +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2637280	NM_006015.6(ARID1A):c.5668G>C (p.Gly1890Arg)	ARID1A (G1673R +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 133552	NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)	ARID1A (R1906Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +3 more	GBenign/Likely benign
Select item 1254496	NM_006015.6(ARID1A):c.5719A>T (p.Ile1907Phe)	ARID1A (I1690F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1336437	NM_006015.6(ARID1A):c.5745G>T (p.Leu1915Phe)	ARID1A (L1698F +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder +1 more	GUncertain significance
Select item 2633770	NM_006015.6(ARID1A):c.5758A>G (p.Ser1920Gly)	ARID1A (S1703G +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GLikely pathogenic
Select item 210261	NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro)	ARID1A (A1927P +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3061310	NM_006015.6(ARID1A):c.5803G>C (p.Glu1935Gln)	ARID1A (E1718Q +1 more)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 2996966	NM_006015.6(ARID1A):c.5822T>G (p.Phe1941Cys)	ARID1A (F1941C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2898211	NM_006015.6(ARID1A):c.5871C>T (p.Asp1957=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2637152	NM_006015.6(ARID1A):c.6472C>T (p.Arg2158Ter)	ARID1A (R1941* +1 more)	Single nucleotide variant (nonsense)	ARID1A-related disorder	GLikely pathogenic
Select item 2690474	NM_006015.6(ARID1A):c.6612C>T (p.Ala2204=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2113546	NM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu)	ARID1A (M2001L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1207321	NM_006015.6(ARID1A):c.6708C>T (p.Arg2236=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1634200	NM_006015.6(ARID1A):c.6762C>T (p.Tyr2254=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054068	NM_006015.6(ARID1A):c.6795G>A (p.Pro2265=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 3061223	NM_006015.6(ARID1A):c.*2A>G	ARID1A	Single nucleotide variant (3 prime UTR variant)	ARID1A-related disorder	GLikely benign

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