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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3583607	NM_006015.6(ARID1A):c.2943G>A (p.Met981Ile)	ARID1A (M981I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3583600	NM_006015.6(ARID1A):c.260G>C (p.Gly87Ala)	ARID1A (G87A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3428867	NM_006015.6(ARID1A):c.3496G>A (p.Ala1166Thr)	ARID1A, LOC126805670 (A1166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3428827	NM_006015.6(ARID1A):c.1088G>A (p.Ser363Asn)	ARID1A, LOC129929837 (S363N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3392476	NM_006015.6(ARID1A):c.4839_4867del (p.Met1613fs)	ARID1A (M1396fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 3389948	NM_006015.6(ARID1A):c.952G>A (p.Gly318Ser)	LOC129929837, ARID1A (G318S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389806	NM_006015.6(ARID1A):c.1120C>T (p.Leu374Phe)	LOC129929837, ARID1A (L374F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389797	NM_006015.6(ARID1A):c.3716-4T>C	LOC126805670, ARID1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3384543	NM_006015.6(ARID1A):c.809G>T (p.Arg270Leu)	ARID1A, LOC129929837 (R270L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383185	NM_006015.6(ARID1A):c.3185G>A (p.Gly1062Asp)	ARID1A (G1062D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3382747	NM_006015.6(ARID1A):c.5121_5124del (p.Gln1708fs)	ARID1A (Q1491fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 3382678	NM_006015.6(ARID1A):c.3198+2T>A	ARID1A	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 3375348	NM_006015.6(ARID1A):c.977G>T (p.Gly326Val)	ARID1A, LOC129929837 (G326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3369717	NM_006015.6(ARID1A):c.3569C>A (p.Ala1190Asp)	ARID1A, LOC126805670 (A1190D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364930	NM_006015.6(ARID1A):c.674C>A (p.Pro225His)	ARID1A, LOC129929837 (P225H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361946	NM_006015.6(ARID1A):c.1846C>T (p.Pro616Ser)	ARID1A (P616S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361187	NM_006015.6(ARID1A):c.3304G>A (p.Ala1102Thr)	ARID1A (A1102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360689	NM_006015.6(ARID1A):c.817G>T (p.Ala273Ser)	ARID1A (A273S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359980	NM_006015.6(ARID1A):c.6295G>T (p.Ala2099Ser)	ARID1A (A1882S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359853	NM_006015.6(ARID1A):c.352A>G (p.Thr118Ala)	ARID1A (T118A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359676	NM_006015.6(ARID1A):c.144G>A (p.Gly48=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3359599	NM_006015.6(ARID1A):c.4178A>G (p.Tyr1393Cys)	ARID1A (Y1393C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3356420	NM_006015.6(ARID1A):c.752C>T (p.Pro251Leu)	LOC129929837, ARID1A (P251L)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3354691	NM_006015.6(ARID1A):c.3527T>C (p.Leu1176Ser)	ARID1A, LOC126805670 (L1176S)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3350844	NM_006015.6(ARID1A):c.936C>A (p.Pro312=)	ARID1A, LOC129929837	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 3350136	NM_006015.6(ARID1A):c.1075C>T (p.His359Tyr)	ARID1A, LOC129929837 (H359Y)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3346296	NM_006015.6(ARID1A):c.670C>A (p.Pro224Thr)	ARID1A, LOC129929837 (P224T)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3345365	NM_006015.6(ARID1A):c.1014_1028del (p.Ala345_Ala349del)	ARID1A, LOC129929837	Deletion (inframe_deletion +1 more)	ARID1A-related disorder	GUncertain significance
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 3258064	NM_006015.6(ARID1A):c.1113dup (p.Gln372fs)	LOC129929837, ARID1A (Q372fs)	Duplication (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3258058	NM_006015.6(ARID1A):c.1051G>T (p.Gly351Ter)	ARID1A, LOC129929837 (G351*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3258051	NM_006015.6(ARID1A):c.1011G>A (p.Trp337Ter)	LOC129929837, ARID1A (W337*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3258046	NM_006015.6(ARID1A):c.883_889del (p.Leu295fs)	ARID1A, LOC129929837 (L295fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257754	NM_006015.6(ARID1A):c.3475_3479delinsA	ARID1A, LOC126805670 (L1160*)	Deletion (nonsense)	Neoplasm	OLikely oncogenic
Select item 3255192	NM_006015.6(ARID1A):c.961C>T (p.Gln321Ter)	ARID1A, LOC129929837 (Q321*)	Single nucleotide variant (nonsense)	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 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)	Inborn genetic diseases +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 specified +1 more	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=)	ARID1A, LOC129929837	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 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

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