196528[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 1526286	NC_000012.12:g.45690000_45750000del	ARID2, LINC00938 +2 more	Deletion	Coffin-Siris syndrome 6	GPathogenic
Select item 1287870	NC_000012.12:g.45729667GCC[13]	ARID2	Microsatellite	not provided	GBenign
Select item 1246175	NM_152641.4(ARID2):c.-14C>G	ARID2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1031207	NM_152641.4(ARID2):c.7A>C (p.Asn3His)	ARID2 (N3H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 3234793	NM_152641.4(ARID2):c.16G>C (p.Gly6Arg)	ARID2 (G6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631787	NM_152641.4(ARID2):c.22G>T (p.Ala8Ser)	ARID2 (A8S)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 133557	NM_152641.4(ARID2):c.28C>A (p.Pro10Thr)	ARID2 (P10T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642908	NM_152641.4(ARID2):c.70C>T (p.Arg24Trp)	ARID2 (R24W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027272	NM_152641.4(ARID2):c.89G>C (p.Arg30Thr)	ARID2, LOC130007728 (R30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757379	NM_152641.4(ARID2):c.92+7G>A	ARID2, LOC130007728	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320312	NM_152641.4(ARID2):c.109dup (p.Ile37fs)	ARID2, LOC130007728 (I37fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 3347919	NM_152641.4(ARID2):c.103A>T (p.Lys35Ter)	ARID2, LOC130007728 (K35*)	Single nucleotide variant (nonsense)	ARID2-related disorder	GLikely pathogenic
Select item 2443532	NM_152641.4(ARID2):c.110T>G (p.Ile37Ser)	ARID2, LOC130007728 (I37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170954	NM_152641.4(ARID2):c.118dup (p.Val40fs)	ARID2, LOC130007728 (V40fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 738393	NM_152641.4(ARID2):c.120G>T (p.Val40=)	ARID2, LOC130007728	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439199	NM_152641.4(ARID2):c.121G>C (p.Gly41Arg)	ARID2, LOC130007728 (G41R)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1706208	NM_152641.4(ARID2):c.124G>C (p.Gly42Arg)	ARID2, LOC130007728 (G42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323526	NM_152641.4(ARID2):c.125G>A (p.Gly42Glu)	ARID2, LOC130007728 (G42E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448920	NM_152641.4(ARID2):c.156del (p.Arg53fs)	ARID2, LOC130007728 (R53fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1177333	NM_152641.4(ARID2):c.156_157del (p.Arg53fs)	ARID2, LOC130007728 (R53fs)	Deletion (frameshift variant)	ARID2-related BAFopathy	GPathogenic
Select item 2642909	NM_152641.4(ARID2):c.162C>G (p.Val54=)	ARID2, LOC130007728	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603686	NM_152641.4(ARID2):c.167_171del (p.Thr56fs)	ARID2, LOC130007728 (T56fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 735102	NM_152641.4(ARID2):c.180C>T (p.Phe60=)	LOC130007728, ARID2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1701621	NM_152641.4(ARID2):c.186G>C (p.Lys62Asn)	ARID2, LOC130007728 (K62N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2616341	NM_152641.4(ARID2):c.187-4C>T	ARID2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 133573	NM_152641.4(ARID2):c.227T>G (p.Phe76Cys)	ARID2 (F76C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 546704	NM_152641.4(ARID2):c.246T>G (p.Cys82Trp)	ARID2 (C82W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310617	NM_152641.4(ARID2):c.284G>A (p.Arg95His)	ARID2 (R95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245539	NM_152641.4(ARID2):c.284+32G>T	ARID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 133574	NM_152641.4(ARID2):c.292G>A (p.Glu98Lys)	ARID2 (E98K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 988562	NM_152641.4(ARID2):c.300del (p.Lys99_Tyr100insTer)	ARID2	Deletion (nonsense)	not provided	GPathogenic
Select item 3024469	NM_152641.4(ARID2):c.335A>C (p.Glu112Ala)	ARID2 (E112A)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 719747	NM_152641.4(ARID2):c.339A>C (p.Val113=)	ARID2	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 6 +1 more	GBenign/Likely benign
Select item 2308053	NM_152641.4(ARID2):c.340C>T (p.Pro114Ser)	ARID2 (P114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129421	NM_152641.4(ARID2):c.364C>G (p.Leu122Val)	ARID2 (L122V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1170955	NM_152641.4(ARID2):c.400dup (p.Gln134fs)	ARID2 (Q134fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic/Likely pathogenic
Select item 1034326	NM_152641.4(ARID2):c.410G>C (p.Ser137Thr)	ARID2 (S137T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 504143	NM_152641.4(ARID2):c.415del (p.Ser139fs)	ARID2 (S139fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1227219	NM_152641.4(ARID2):c.419-57T>C	ARID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3026689	NM_152641.4(ARID2):c.419-5G>A	ARID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025082	NM_152641.4(ARID2):c.461C>G (p.Ser154Trp)	ARID2 (S154W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024468	NM_152641.4(ARID2):c.484G>T (p.Val162Leu)	ARID2 (V162L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439204	NM_152641.4(ARID2):c.485T>A (p.Val162Glu)	ARID2 (V162E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2671933	NM_152641.4(ARID2):c.542_552del (p.Thr181fs)	ARID2 (T181fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 522106	NM_152641.4(ARID2):c.542C>T (p.Thr181Ile)	ARID2 (T181I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331130	NM_152641.4(ARID2):c.595A>G (p.Ile199Val)	ARID2 (I199V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254956	NM_152641.4(ARID2):c.637+5G>A	ARID2	Single nucleotide variant (intron variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1281986	NM_152641.4(ARID2):c.638-40G>A	ARID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710278	NM_152641.4(ARID2):c.675G>A (p.Trp225Ter)	ARID2 (W225*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 449929	NM_152641.4(ARID2):c.706-9T>G	ARID2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2588240	NM_152641.4(ARID2):c.773A>G (p.Glu258Gly)	ARID2 (E258G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1705351	NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)	ARID2 (W264*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2306016	NM_152641.4(ARID2):c.818C>T (p.Pro273Leu)	ARID2 (P273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031208	NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)	ARID2 (R274*)	Single nucleotide variant (nonsense)	ARID2-related BAFopathy +1 more	GLikely pathogenic
Select item 3024465	NM_152641.4(ARID2):c.836_839dup (p.Asp280fs)	ARID2 (D280fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 2691005	NM_152641.4(ARID2):c.869_881del (p.Ala290fs)	ARID2 (A290fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 2584343	NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)	ARID2 (S297F)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 504247	NM_152641.4(ARID2):c.905dup (p.Asn302fs)	ARID2 (N302fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2688605	NM_152641.4(ARID2):c.905A>G (p.Asn302Ser)	ARID2 (N302S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1698187	NM_152641.4(ARID2):c.928C>T (p.Arg310Cys)	ARID2 (R310C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366106	NM_152641.4(ARID2):c.931A>G (p.Thr311Ala)	ARID2 (T311A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292588	NM_152641.4(ARID2):c.941G>A (p.Arg314His)	ARID2 (R314H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024470	NM_152641.4(ARID2):c.988_1008del (p.Leu330_Gly336del)	ARID2	Deletion (inframe_deletion)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 3129412	NM_152641.4(ARID2):c.1024C>G (p.Leu342Val)	ARID2 (L342V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448916	NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)	ARID2 (L343*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2430313	NM_152641.4(ARID2):c.1057C>T (p.His353Tyr)	ARID2 (H353Y)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2672496	NM_152641.4(ARID2):c.1065G>A (p.Met355Ile)	ARID2 (M355I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700146	NM_152641.4(ARID2):c.1110_1120+9del	ARID2	Deletion (splice donor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 984951	NM_152641.4(ARID2):c.1121-1G>A	ARID2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1319845	NM_152641.4(ARID2):c.1122C>T (p.Gly374=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3024466	NM_152641.4(ARID2):c.1150G>A (p.Ala384Thr)	ARID2 (A384T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 758137	NM_152641.4(ARID2):c.1236G>A (p.Val412=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985287	NM_152641.4(ARID2):c.1249T>G (p.Ser417Ala)	ARID2 (S417A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024471	NM_152641.4(ARID2):c.1261dup (p.Val421fs)	ARID2 (V421fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1177334	NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs)	ARID2 (Y423fs)	Duplication (frameshift variant)	ARID2-related BAFopathy	GPathogenic
Select item 1806587	NM_152641.4(ARID2):c.1279G>C (p.Glu427Gln)	ARID2 (E427Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177335	NM_152641.4(ARID2):c.1284_1288del (p.Met428fs)	ARID2 (M428fs)	Deletion (frameshift variant)	ARID2-related BAFopathy	GLikely pathogenic
Select item 1343246	NM_152641.4(ARID2):c.1331-1G>C	ARID2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 986146	NM_152641.4(ARID2):c.1332del (p.Asp444fs)	ARID2 (D444fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1805865	NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)	ARID2 (M445fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 280731	NM_152641.4(ARID2):c.1338_1341del (p.Leu446fs)	ARID2 (L446fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 755329	NM_152641.4(ARID2):c.1359T>C (p.Asp453=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745717	NM_152641.4(ARID2):c.1374C>T (p.Gly458=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299727	NM_152641.4(ARID2):c.1388C>A (p.Ala463Asp)	ARID2 (A463D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463494	NM_152641.4(ARID2):c.1414A>C (p.Ser472Arg)	ARID2 (S472R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328744	NM_152641.4(ARID2):c.1429A>G (p.Met477Val)	ARID2 (M477V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1800907	NM_152641.4(ARID2):c.1445G>A (p.Arg482Lys)	ARID2 (R482K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439201	NM_152641.4(ARID2):c.1447C>T (p.Pro483Ser)	ARID2 (P483S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2284452	NM_152641.4(ARID2):c.1452A>T (p.Gln484His)	ARID2 (Q484H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133558	NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser)	ARID2 (T491S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6 +2 more	GBenign/Likely benign
Select item 2633694	NM_152641.4(ARID2):c.1486G>C (p.Ala496Pro)	ARID2 (A496P)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 2576078	NM_152641.4(ARID2):c.1487C>T (p.Ala496Val)	ARID2 (A496V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970626	NM_152641.4(ARID2):c.1495C>T (p.Pro499Ser)	ARID2 (P499S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581866	NM_152641.4(ARID2):c.1498+5G>A	ARID2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2642910	NM_152641.4(ARID2):c.1499C>G (p.Ala500Gly)	ARID2 (A500G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 712973	NM_152641.4(ARID2):c.1518G>A (p.Ala506=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3036824	NM_152641.4(ARID2):c.1521G>A (p.Gln507=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely benign
Select item 782128	NM_152641.4(ARID2):c.1524T>C (p.His508=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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