ARID1A[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1370

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 1211712	NC_000001.11:g.26695829G>A	ARID1A	Single nucleotide variant	not provided	GLikely benign
Select item 1219322	NC_000001.11:g.26695894T>C	ARID1A	Single nucleotide variant	not provided	GLikely benign
Select item 1226242	NM_006015.6(ARID1A):c.-27C>T	ARID1A	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 434310	NM_006015.6(ARID1A):c.-7G>T	ARID1A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2025460	NM_006015.6(ARID1A):c.2T>G (p.Met1Arg)	ARID1A (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1199835	NM_006015.6(ARID1A):c.2T>C (p.Met1Thr)	ARID1A (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708876	NM_006015.6(ARID1A):c.4G>A (p.Ala2Thr)	ARID1A (A2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994837	NM_006015.6(ARID1A):c.13G>A (p.Val5Ile)	ARID1A (V5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30292	NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)	ARID1A (S11fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +2 more	GPathogenic
Select item 1312908	NM_006015.6(ARID1A):c.22G>A (p.Ala8Thr)	ARID1A (A8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725907	NM_006015.6(ARID1A):c.24C>G (p.Ala8=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711851	NM_006015.6(ARID1A):c.36C>T (p.Ser12=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 591469	NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 434329	NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1700510	NM_006015.6(ARID1A):c.48GCC[3] (p.Pro20_Pro21del)	ARID1A	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 770843	NM_006015.6(ARID1A):c.48GCC[4] (p.Pro21del)	ARID1A (P21del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 871131	NM_006015.6(ARID1A):c.55C>G (p.Pro19Ala)	ARID1A (P19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887907	NM_006015.6(ARID1A):c.60G>A (p.Pro20=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320644	NM_006015.6(ARID1A):c.66G>C (p.Ser22=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591488	NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter)	ARID1A (E23*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1548133	NM_006015.6(ARID1A):c.72G>C (p.Leu24=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924949	NM_006015.6(ARID1A):c.75G>A (p.Lys25=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3371441	NM_006015.6(ARID1A):c.85C>A (p.Gln29Lys)	ARID1A (Q29K)	Single nucleotide variant (missense variant)	not provided	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 2250994	NM_006015.6(ARID1A):c.91C>G (p.Gln31Glu)	ARID1A (Q31E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1953949	NM_006015.6(ARID1A):c.95G>A (p.Arg32Gln)	ARID1A (R32Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784154	NM_006015.6(ARID1A):c.96G>A (p.Arg32=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874201	NM_006015.6(ARID1A):c.106G>A (p.Gly36Arg)	ARID1A (G36R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992446	NM_006015.6(ARID1A):c.108G>T (p.Gly36=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337999	NM_006015.6(ARID1A):c.110G>A (p.Gly37Asp)	ARID1A (G37D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 387741	NM_006015.6(ARID1A):c.111C>T (p.Gly37=)	ARID1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2902782	NM_006015.6(ARID1A):c.114GGC[9] (p.Ala45_Glu46insAlaAlaAlaAla)	ARID1A	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1346038	NM_006015.6(ARID1A):c.114GGC[7] (p.Ala44_Ala45dup)	ARID1A	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 126309	NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup)	ARID1A	Microsatellite (inframe_insertion)	Intellectual disability, autosomal dominant 14 +2 more	GBenign/Likely benign
Select item 2914471	NM_006015.6(ARID1A):c.114GGC[3] (p.Ala44_Ala45del)	ARID1A	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 591383	NM_006015.6(ARID1A):c.114GGC[4] (p.Ala45del)	ARID1A (A45del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1922818	NM_006015.6(ARID1A):c.116C>T (p.Ala39Val)	ARID1A (A39V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1098623	NM_006015.6(ARID1A):c.122C>T (p.Ala41Val)	ARID1A (A41V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2884783	NM_006015.6(ARID1A):c.123G>A (p.Ala41=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2826045	NM_006015.6(ARID1A):c.129_134dup (p.Ala45_Glu46insAlaAla)	ARID1A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2807826	NM_006015.6(ARID1A):c.126G>A (p.Ala42=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721034	NM_006015.6(ARID1A):c.130G>C (p.Ala44Pro)	ARID1A (A44P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794033	NM_006015.6(ARID1A):c.133G>A (p.Ala45Thr)	ARID1A (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434311	NM_006015.6(ARID1A):c.135C>T (p.Ala45=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2958488	NM_006015.6(ARID1A):c.138G>A (p.Glu46=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881872	NM_006015.6(ARID1A):c.139C>T (p.Arg47Cys)	ARID1A (R47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907595	NM_006015.6(ARID1A):c.140G>A (p.Arg47His)	ARID1A (R47H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2189450	NM_006015.6(ARID1A):c.148A>G (p.Met50Val)	ARID1A (M50V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1701098	NM_006015.6(ARID1A):c.148_149delinsTA (p.Met50Ter)	ARID1A (M50*)	Indel (nonsense)	not provided	GPathogenic
Select item 2634102	NM_006015.6(ARID1A):c.161C>T (p.Ala54Val)	ARID1A (A54V)	Single nucleotide variant (missense variant)	ARID1A-related disorder +1 more	GUncertain significance
Select item 1250824	NM_006015.6(ARID1A):c.162C>T (p.Ala54=)	ARID1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 14 +1 more	GBenign
Select item 976860	NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg)	ARID1A (G55R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 1177329	NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter)	ARID1A (Q56*)	Single nucleotide variant (nonsense)	ARID1A-related BAFopathy	GPathogenic
Select item 2414025	NM_006015.6(ARID1A):c.167A>T (p.Gln56Leu)	ARID1A (Q56L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2886702	NM_006015.6(ARID1A):c.168G>A (p.Gln56=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1065491	NM_006015.6(ARID1A):c.175G>T (p.Glu59Ter)	ARID1A (E59*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GPathogenic
Select item 1707946	NM_006015.6(ARID1A):c.185C>T (p.Ala62Val)	ARID1A (A62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533192	NM_006015.6(ARID1A):c.187G>T (p.Val63Leu)	ARID1A (V63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3005509	NM_006015.6(ARID1A):c.190G>A (p.Gly64Arg)	ARID1A (G64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999026	NM_006015.6(ARID1A):c.193C>T (p.Pro65Ser)	ARID1A (P65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445779	NM_006015.6(ARID1A):c.193C>G (p.Pro65Ala)	ARID1A (P65A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2872520	NM_006015.6(ARID1A):c.194C>T (p.Pro65Leu)	ARID1A (P65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2709400	NM_006015.6(ARID1A):c.200A>G (p.Gln67Arg)	ARID1A (Q67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765897	NM_006015.6(ARID1A):c.202C>A (p.Pro68Thr)	ARID1A (P68T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274873	NM_006015.6(ARID1A):c.202C>T (p.Pro68Ser)	ARID1A (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1901098	NM_006015.6(ARID1A):c.207G>A (p.Leu69=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487863	NM_006015.6(ARID1A):c.209G>T (p.Gly70Val)	ARID1A (G70V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662184	NM_006015.6(ARID1A):c.213G>T (p.Lys71Asn)	ARID1A (K71N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926742	NM_006015.6(ARID1A):c.213G>A (p.Lys71=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932922	NM_006015.6(ARID1A):c.219G>A (p.Leu73=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579766	NM_006015.6(ARID1A):c.221A>C (p.Gln74Pro)	ARID1A (Q74P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434348	NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser)	ARID1A (N80S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2174252	NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)	ARID1A	Microsatellite (inframe_indel +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434330	NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup)	ARID1A	Microsatellite (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 434312	NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup)	ARID1A	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1254549	NM_006015.6(ARID1A):c.250_267del (p.Gly84_Gly89del)	ARID1A	Deletion (inframe_deletion)	not provided	GBenign/Likely benign
Select item 2756810	NM_006015.6(ARID1A):c.261AGCCGGCAGCGGCGGCGG[3] (p.Gly93_Pro94insAlaGlySerGlyGlyGlyAlaGlySerGlyGlyGly)	ARID1A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 592018	NM_006015.6(ARID1A):c.261_278dup (p.Ala88_Gly93dup)	ARID1A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1205023	NM_006015.6(ARID1A):c.261_278del (p.Ala88_Gly93del)	ARID1A	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1334964	NM_006015.6(ARID1A):c.261_275dup (p.Ala88_Gly92dup)	ARID1A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 976365	NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del)	ARID1A	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 14	GUncertain significance
Select item 2721851	NM_006015.6(ARID1A):c.261A>G (p.Gly87=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174864	NM_006015.6(ARID1A):c.261A>C (p.Gly87=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974941	NM_006015.6(ARID1A):c.268_285dup (p.Gly95_Ala96insSerGlyGlyGlyProGly)	ARID1A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1216141	NM_006015.6(ARID1A):c.263_277del (p.Ala88_Gly92del)	ARID1A	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2696947	NM_006015.6(ARID1A):c.268_285del (p.Ser90_Gly95del)	ARID1A	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 434313	NM_006015.6(ARID1A):c.264C>T (p.Ala88=)	ARID1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 992765	NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup)	ARID1A	Microsatellite (inframe_insertion)	Pulmonic stenosis +1 more	GUncertain significance
Select item 434314	NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)	ARID1A (S90G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 2688597	NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)	ARID1A (S90R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GUncertain significance

<< First< Prev

Page of 14