Related gene-specific medical variations for Gene (Select 8289) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 213

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3234951	NM_006015.6(ARID1A):c.3487C>T (p.Pro1163Ser)	ARID1A, LOC126805670 (P1163S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
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 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 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 3052958	NM_006015.6(ARID1A):c.3567T>C (p.Asp1189=)	ARID1A, LOC126805670	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
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 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 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 3025380	NM_006015.6(ARID1A):c.1116G>C (p.Gln372His)	ARID1A, LOC129929837 (Q372H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022536	NM_006015.6(ARID1A):c.3716-20G>A	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020283	NM_006015.6(ARID1A):c.3477C>T (p.Asp1159=)	ARID1A, LOC126805670	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3011031	NM_006015.6(ARID1A):c.3677A>G (p.Tyr1226Cys)	ARID1A, LOC126805670 (Y1226C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2999398	NM_006015.6(ARID1A):c.777C>T (p.Ala259=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2986467	NM_006015.6(ARID1A):c.816G>C (p.Gly272=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984215	NM_006015.6(ARID1A):c.3675C>G (p.Ser1225=)	ARID1A, LOC126805670	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983526	NM_006015.6(ARID1A):c.3670A>G (p.Met1224Val)	ARID1A, LOC126805670 (M1224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983010	NM_006015.6(ARID1A):c.3716-10C>T	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979740	NM_006015.6(ARID1A):c.3715+10C>G	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976277	NM_006015.6(ARID1A):c.3718C>G (p.Pro1240Ala)	ARID1A, LOC126805670 (P1240A)	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 +1 more	GConflicting classifications of pathogenicity
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 2968356	NM_006015.6(ARID1A):c.696C>T (p.Ser232=)	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 2966935	NM_006015.6(ARID1A):c.1132C>T (p.Pro378Ser)	ARID1A, LOC129929837 (P378S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2961295	NM_006015.6(ARID1A):c.3539+18G>A	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956305	NM_006015.6(ARID1A):c.3407-8G>C	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2910752	NM_006015.6(ARID1A):c.3716-6G>A	ARID1A, LOC126805670	Single nucleotide variant (intron 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 2890776	NM_006015.6(ARID1A):c.1008T>C (p.Cys336=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885198	NM_006015.6(ARID1A):c.1035GGC[4] (p.Ala349_Ser350insAla)	ARID1A, LOC129929837	Microsatellite (inframe_insertion)	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 2870648	NM_006015.6(ARID1A):c.644A>G (p.Tyr215Cys)	ARID1A, LOC129929837 (Y215C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836539	NM_006015.6(ARID1A):c.3485C>T (p.Pro1162Leu)	ARID1A, LOC126805670 (P1162L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834644	NM_006015.6(ARID1A):c.3619C>A (p.Pro1207Thr)	ARID1A, LOC126805670 (P1207T)	Single nucleotide variant (missense 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 2818093	NM_006015.6(ARID1A):c.3499T>C (p.Ser1167Pro)	ARID1A, LOC126805670 (S1167P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2801078	NM_006015.6(ARID1A):c.1098C>T (p.Ser366=)	LOC129929837, ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2792910	NM_006015.6(ARID1A):c.906C>T (p.Pro302=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	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 2791904	NM_006015.6(ARID1A):c.3716-3C>T	ARID1A, LOC126805670	Single nucleotide variant (intron variant)	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 2781658	NM_006015.6(ARID1A):c.3407-16G>T	ARID1A, LOC126805670	Single nucleotide variant (intron 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 2764989	NM_006015.6(ARID1A):c.668C>G (p.Pro223Arg)	ARID1A, LOC129929837 (P223R)	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 2693764	NM_006015.6(ARID1A):c.959C>G (p.Pro320Arg)	ARID1A, LOC129929837 (P320R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692502	NM_006015.6(ARID1A):c.911C>T (p.Ser304Leu)	ARID1A, LOC129929837 (S304L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2663489	NM_006015.6(ARID1A):c.819C>T (p.Ala273=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2638529	NM_006015.6(ARID1A):c.1101C>T (p.Ser367=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638528	NM_006015.6(ARID1A):c.846C>T (p.Ala282=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638527	NM_006015.6(ARID1A):c.742G>A (p.Gly248Ser)	ARID1A, LOC129929837 (G248S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 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 2580422	NM_006015.6(ARID1A):c.815G>A (p.Gly272Glu)	ARID1A, LOC129929837 (G272E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579654	NM_006015.6(ARID1A):c.6436_6438del (p.Lys2146del)	ARID1A (K1929del +1 more)	Deletion (inframe_deletion)	Endometrial carcinoma	Gassociation
Select item 2578137	NM_006015.6(ARID1A):c.698C>T (p.Ser233Phe)	ARID1A, LOC129929837 (S233F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576068	NM_006015.6(ARID1A):c.3506C>T (p.Pro1169Leu)	ARID1A, LOC126805670 (P1169L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573802	NM_006015.6(ARID1A):c.704G>A (p.Arg235Lys)	ARID1A, LOC129929837 (R235K)	Single nucleotide variant (missense variant)	not provided	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 2504306	NM_006015.6(ARID1A):c.3715+4A>T	ARID1A, LOC126805670	Single nucleotide variant (intron 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 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 2443223	NM_006015.6(ARID1A):c.3448A>C (p.Thr1150Pro)	ARID1A, LOC126805670 (T1150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442668	NM_006015.6(ARID1A):c.741C>G (p.Ala247=)	LOC129929837, ARID1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2442347	NM_006015.6(ARID1A):c.1015del (p.Ala339fs)	LOC129929837, ARID1A (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 2428900	NM_006015.6(ARID1A):c.3497C>G (p.Ala1166Gly)	ARID1A, LOC126805670 (A1166G)	Single nucleotide variant (missense variant)	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 2412875	NM_006015.6(ARID1A):c.1124C>A (p.Ala375Asp)	ARID1A, LOC129929837 (A375D)	Single nucleotide variant (missense variant)	not provided	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 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 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 2193229	NM_006015.6(ARID1A):c.1029_1043dup (p.Ala349_Ser350insAlaAlaAlaAlaAla)	ARID1A, LOC129929837	Duplication (inframe_insertion)	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 specified +1 more	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 2175764	NM_006015.6(ARID1A):c.997G>T (p.Ala333Ser)	ARID1A, LOC129929837 (A333S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2175153	NM_006015.6(ARID1A):c.949A>G (p.Ser317Gly)	ARID1A, LOC129929837 (S317G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3