ClinVar for Gene (Select 8289) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376976	NM_006015.6(ARID1A):c.2019G>T (p.Gln673His)	ARID1A (Q673H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3376396	NM_006015.6(ARID1A):c.3044G>T (p.Gly1015Val)	ARID1A (G1015V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 3376348	NM_006015.6(ARID1A):c.4121A>G (p.Asp1374Gly)	ARID1A (D1374G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3376314	NM_006015.6(ARID1A):c.88C>T (p.Gln30Ter)	ARID1A (Q30*)	Single nucleotide variant (nonsense)	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 3374904	NM_006015.6(ARID1A):c.4832T>C (p.Met1611Thr)	ARID1A (M1394T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373392	NM_006015.6(ARID1A):c.295G>T (p.Asp99Tyr)	ARID1A (D99Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373195	NM_006015.6(ARID1A):c.3973C>G (p.Pro1325Ala)	ARID1A (P1325A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372923	NM_006015.6(ARID1A):c.3210_3212del (p.Asn1070del)	ARID1A (N1070del)	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 3372106	NM_006015.6(ARID1A):c.3043_3045delinsAGA (p.Gly1015Arg)	ARID1A (G1015R)	Indel (missense variant)	not provided	GUncertain significance
Select item 3371441	NM_006015.6(ARID1A):c.85C>A (p.Gln29Lys)	ARID1A (Q29K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371230	NM_006015.6(ARID1A):c.1201T>C (p.Tyr401His)	ARID1A (Y401H)	Single nucleotide variant (missense variant)	not provided	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 3369573	NM_006015.6(ARID1A):c.2072G>A (p.Gly691Asp)	ARID1A (G691D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368735	NM_006015.6(ARID1A):c.6376A>G (p.Ser2126Gly)	ARID1A (S1909G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368390	NM_006015.6(ARID1A):c.283G>A (p.Gly95Ser)	ARID1A (G95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368295	NM_006015.6(ARID1A):c.2570G>C (p.Arg857Thr)	ARID1A (R857T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368168	NM_006015.6(ARID1A):c.272G>A (p.Gly91Asp)	ARID1A (G91D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367136	NM_006015.6(ARID1A):c.3286T>C (p.Tyr1096His)	ARID1A (Y1096H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 3366572	NM_006015.6(ARID1A):c.5257G>A (p.Val1753Met)	ARID1A (V1536M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366052	NM_006015.6(ARID1A):c.6173A>C (p.Glu2058Ala)	ARID1A (E1841A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365852	NM_006015.6(ARID1A):c.4602C>G (p.His1534Gln)	ARID1A (H1534Q)	Single nucleotide variant (missense variant +1 more)	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 3364532	NM_006015.6(ARID1A):c.3397C>T (p.Pro1133Ser)	ARID1A (P1133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363910	NM_006015.6(ARID1A):c.6076C>G (p.Gln2026Glu)	ARID1A (Q1809E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363579	NM_006015.6(ARID1A):c.482_490del (p.Val161_Ala163del)	ARID1A	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 3363541	NM_006015.6(ARID1A):c.4127C>T (p.Thr1376Ile)	ARID1A (T1376I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363396	NM_006015.6(ARID1A):c.5716C>T (p.Arg1906Trp)	ARID1A (R1689W +1 more)	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 3356985	NM_006015.6(ARID1A):c.3884G>A (p.Gly1295Glu)	ARID1A (G1295E)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3356884	NM_006015.6(ARID1A):c.2961G>T (p.Gly987=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
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 3354803	NM_006015.6(ARID1A):c.483CGC[6] (p.Ala167_Val168insAlaAla)	ARID1A	Microsatellite (inframe_indel +1 more)	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 3352345	NM_006015.6(ARID1A):c.2735C>T (p.Pro912Leu)	ARID1A (P912L)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GLikely benign
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 3350147	NM_006015.6(ARID1A):c.6711G>C (p.Ala2237=)	ARID1A	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 3348145	NM_006015.6(ARID1A):c.5337G>A (p.Glu1779=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 3346994	NM_006015.6(ARID1A):c.279G>A (p.Gly93=)	ARID1A	Single nucleotide variant (synonymous variant)	ARID1A-related disorder	GLikely benign
Select item 3346660	NM_006015.6(ARID1A):c.3809A>G (p.Asn1270Ser)	ARID1A (N1270S)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3346604	NM_006015.6(ARID1A):c.4721C>T (p.Pro1574Leu)	ARID1A (P1574L)	Single nucleotide variant (missense variant +1 more)	not provided	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 3346001	NM_006015.6(ARID1A):c.6419C>G (p.Pro2140Arg)	ARID1A (P1923R +1 more)	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 3344850	NM_006015.6(ARID1A):c.1826G>A (p.Gly609Glu)	ARID1A (G609E)	Single nucleotide variant (missense variant)	ARID1A-related disorder	GUncertain significance
Select item 3343116	NM_006015.6(ARID1A):c.1210C>G (p.Gln404Glu)	ARID1A (Q404E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343017	NM_006015.6(ARID1A):c.1244A>T (p.His415Leu)	ARID1A (H415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342654	NM_006015.6(ARID1A):c.3230C>T (p.Ala1077Val)	ARID1A (A1077V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342189	NM_006015.6(ARID1A):c.2877A>T (p.Ala959=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3342188	NM_006015.6(ARID1A):c.2287A>G (p.Ser763Gly)	ARID1A (S763G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341001	NM_006015.6(ARID1A):c.4643A>C (p.His1548Pro)	ARID1A (H1548P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3340876	NM_006015.6(ARID1A):c.343A>C (p.Asn115His)	ARID1A (N115H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340598	NM_006015.6(ARID1A):c.3406G>A (p.Ala1136Thr)	ARID1A (A1136T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337813	NM_006015.6(ARID1A):c.2834G>T (p.Gly945Val)	ARID1A (G945V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336944	NM_006015.6(ARID1A):c.4712_4715del (p.Asn1571fs)	ARID1A (N1571fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3336236	NM_006015.6(ARID1A):c.493G>T (p.Ala165Ser)	ARID1A (A165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3314285	NM_006015.6(ARID1A):c.2561C>T (p.Pro854Leu)	ARID1A (P854L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258064	NM_006015.6(ARID1A):c.1113dup (p.Gln372fs)	ARID1A, LOC129929837 (Q372fs)	Duplication (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3258058	NM_006015.6(ARID1A):c.1051G>T (p.Gly351Ter)	LOC129929837, ARID1A (G351*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3258051	NM_006015.6(ARID1A):c.1011G>A (p.Trp337Ter)	ARID1A, LOC129929837 (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 3257912	NM_006015.6(ARID1A):c.6710C>T (p.Ala2237Val)	ARID1A (A2020V +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257906	NM_006015.6(ARID1A):c.6106G>T (p.Glu2036Ter)	ARID1A (E1819* +1 more)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257882	NM_006015.6(ARID1A):c.2706del (p.His902fs)	ARID1A (H902fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257877	NM_006015.6(ARID1A):c.2177_2189del (p.Pro726fs)	ARID1A (P726fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257873	NM_006015.6(ARID1A):c.1991C>G (p.Ser664Ter)	ARID1A (S664*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257871	NM_006015.6(ARID1A):c.1831C>T (p.Gln611Ter)	ARID1A (Q611*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257866	NM_006015.6(ARID1A):c.1762C>T (p.Gln588Ter)	ARID1A (Q588*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257754	NM_006015.6(ARID1A):c.3475_3479delinsA	ARID1A, LOC126805670 (L1160*)	Deletion (nonsense)	Neoplasm	OLikely oncogenic
Select item 3256744	NM_006015.6(ARID1A):c.3199-15G>A	ARID1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
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 3253519	NM_006015.6(ARID1A):c.4637C>A (p.Pro1546His)	ARID1A (P1546H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252880	NM_006015.6(ARID1A):c.4057C>T (p.Pro1353Ser)	ARID1A (P1353S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252604	NM_006015.6(ARID1A):c.6694C>G (p.Arg2232Gly)	ARID1A (R2015G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251153	NM_006015.6(ARID1A):c.2893C>G (p.Pro965Ala)	ARID1A (P965A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239502	NM_006015.6(ARID1A):c.312C>A (p.Asn104Lys)	ARID1A (N104K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3234696	NM_006015.6(ARID1A):c.3362C>T (p.Ala1121Val)	ARID1A (A1121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3129392	NM_006015.6(ARID1A):c.6758T>C (p.Leu2253Pro)	ARID1A (L2036P +1 more)	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 3129389	NM_006015.6(ARID1A):c.2589G>A (p.Met863Ile)	ARID1A (M863I)	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 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 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

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