ClinVar for MedGen (Select 766161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237157	NM_006015.6(ARID1A):c.4582C>T (p.Arg1528Ter)	ARID1A (R1528*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 3235938	NM_006015.6(ARID1A):c.1507C>T (p.Gln503Ter)	ARID1A (Q503*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 3220888	NM_006015.6(ARID1A):c.5229_5230dup (p.Leu1744fs)	ARID1A (L1744fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 3076211	NM_006015.6(ARID1A):c.476dup (p.Ala160fs)	ARID1A (A160fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 3068167	NM_006015.6(ARID1A):c.4148G>A (p.Arg1383Gln)	ARID1A (R1383Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3064423	NM_006015.6(ARID1A):c.3516G>C (p.Gln1172His)	ARID1A, LOC126805670 (Q1172H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3024546	NM_006015.6(ARID1A):c.6425G>A (p.Ser2142Asn)	ARID1A (S1925N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2920687	NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)	ARID1A (R1772G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	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 2688599	NM_006015.6(ARID1A):c.4874T>C (p.Ile1625Thr)	ARID1A (I1408T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2688598	NM_006015.6(ARID1A):c.320C>T (p.Ala107Val)	ARID1A (A107V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2688597	NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)	ARID1A (S90R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2688596	NM_006015.6(ARID1A):c.493G>C (p.Ala165Pro)	ARID1A (A165P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2582556	NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)	ARID1A (I1850T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 2582256	NM_006015.6(ARID1A):c.5566C>T (p.Gln1856Ter)	ARID1A (Q1639* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 2576602	NM_006015.6(ARID1A):c.284del (p.Gly95fs)	ARID1A (G95fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 2572557	NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)	ARID1A (C1751fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 2505539	NM_006015.6(ARID1A):c.4868C>T (p.Ser1623Leu)	ARID1A (S1406L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2500289	NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)	ARID1A (Y1096C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 2442347	NM_006015.6(ARID1A):c.1015del (p.Ala339fs)	ARID1A, LOC129929837 (A339fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 2442202	NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)	ARID1A (W1023G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 2439166	NM_006015.6(ARID1A):c.4412A>G (p.Asn1471Ser)	ARID1A (N1471S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439165	NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)	ARID1A (P68L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439164	NM_006015.6(ARID1A):c.626A>T (p.Asn209Ile)	ARID1A, LOC129929837 (N209I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439163	NM_006015.6(ARID1A):c.5939G>A (p.Arg1980His)	ARID1A (R1763H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439162	NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)	ARID1A (A112T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439161	NM_006015.6(ARID1A):c.2988+3A>T	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2439160	NM_006015.6(ARID1A):c.3978GCA[4] (p.Gln1331_Gln1334del)	ARID1A	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2412701	NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)	ARID1A (Q1363*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 1805087	NM_006015.6(ARID1A):c.1350+1G>T	ARID1A	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1805024	NM_006015.6(ARID1A):c.5299_5301delinsCTT (p.Glu1767Leu)	ARID1A (E1550L +1 more)	Indel (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign/Likely benign
Select item 1710234	NM_006015.6(ARID1A):c.2878+5G>A	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1709331	NM_006015.6(ARID1A):c.3217T>C (p.Trp1073Arg)	ARID1A (W1073R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1709137	NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)	ARID1A (M1300fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 1709078	NM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser)	ARID1A (P508S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1703008	NM_006015.6(ARID1A):c.1920+3_1920+6del	ARID1A	Deletion (splice donor variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 1702972	NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg)	ARID1A (P887R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1699033	NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp)	ARID1A (R1020W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 1699030	NM_006015.6(ARID1A):c.6466A>G (p.Ser2156Gly)	ARID1A (S1939G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1698728	NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del)	ARID1A	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1696628	NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu)	ARID1A (G81E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1693173	NM_006015.6(ARID1A):c.1351-82C>T	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GBenign
Select item 1679117	NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)	ARID1A (E33fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GConflicting classifications of pathogenicity
Select item 1675353	NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter)	ARID1A (Q548*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14 +1 more	GPathogenic
Select item 1343286	NM_006015.6(ARID1A):c.6437A>G (p.Lys2146Arg)	ARID1A (K1929R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1342347	NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val)	ARID1A (M1694V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
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 1341879	NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu)	ARID1A (G1684E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1339820	NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr)	ARID1A (M442T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	Gnot provided
Select item 1325588	NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His)	ARID1A (R1463H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1323404	NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter)	ARID1A (Q708*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 1323396	NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter)	ARID1A (S617*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 1321507	NM_006015.6(ARID1A):c.2615T>C (p.Met872Thr)	ARID1A (M872T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1313887	NM_006015.6(ARID1A):c.4715A>G (p.Tyr1572Cys)	ARID1A (Y1572C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1297870	NM_006015.6(ARID1A):c.3199-95A>G	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
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 1274566	NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1274554	NM_006015.6(ARID1A):c.4152C>T (p.His1384=)	ARID1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 1272243	NM_006015.6(ARID1A):c.1351-22A>C	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1265520	NM_006015.6(ARID1A):c.2420-18G>C	ARID1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1257586	NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala)	ARID1A (P1410A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 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 1248815	NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg)	ARID1A (Q1584R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14 +1 more	GBenign/Likely benign
Select item 1244408	NM_006015.6(ARID1A):c.2988+36G>A	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1241257	NM_006015.6(ARID1A):c.393G>C (p.Gly131=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1237705	NM_006015.6(ARID1A):c.4994-20G>C	ARID1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1232241	NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1230604	NM_006015.6(ARID1A):c.2252-97A>T	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 1229299	NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)	ARID1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1228712	NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del)	ARID1A (E1550del +1 more)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 1223603	NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu)	ARID1A (P146L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GConflicting classifications of pathogenicity
Select item 1213757	NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys)	ARID1A (S506C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1213731	NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr)	ARID1A (S90T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1206070	NM_006015.6(ARID1A):c.3716-7C>T	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1204764	NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr)	ARID1A (A1522T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14 +1 more	GConflicting classifications of pathogenicity
Select item 1193038	NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr)	ARID1A (A2020T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1182296	NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)	ARID1A (A1077E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GPathogenic/Likely pathogenic
Select item 1176188	NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)	ARID1A (S1057P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 1172645	NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)	ARID1A (S1350fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 1120179	NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs)	ARID1A (V1765fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 1098623	NM_006015.6(ARID1A):c.122C>T (p.Ala41Val)	ARID1A (A41V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GConflicting classifications of pathogenicity
Select item 1098617	NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys)	ARID1A (Q732K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1098604	NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe)	ARID1A, LOC129929837 (S255F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1031599	NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu)	ARID1A (S1544L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1031598	NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr)	ARID1A (P1372T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14 +1 more	GUncertain significance
Select item 1031597	NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu)	ARID1A (P877L)	Single nucleotide variant (missense variant)	ARID1A-related BAFopathy +1 more	GUncertain significance
Select item 1031596	NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg)	ARID1A (G794R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1031595	NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg)	ARID1A (P66R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1031594	NM_006015.6(ARID1A):c.1430A>G (p.His477Arg)	ARID1A (H477R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14 +1 more	GConflicting classifications of pathogenicity
Select item 1028997	NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)	ARID1A (I1771T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 1028996	NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys)	ARID1A (R1381C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028995	NM_006015.6(ARID1A):c.3539+5G>A	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028994	NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe)	ARID1A (L1092F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028993	NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg)	ARID1A (P109R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028992	NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys)	ARID1A (E1017K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1028991	NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys)	ARID1A (E97K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance

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