ClinVar for Gene (Select 196528) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236074	NM_152641.4(ARID2):c.3738GGA[2] (p.Glu1249del)	ARID2 (E1249del)	Microsatellite (inframe_deletion)	Coffin-Siris syndrome 6	GUncertain significance
Select item 3234843	GRCh37/hg19 12q12(chr12:46194336-46215270)x3	ARID2	Copy number gain	not provided	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 3233591	NM_152641.4(ARID2):c.5227G>A (p.Ala1743Thr)	ARID2 (A1743T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129426	NM_152641.4(ARID2):c.4640C>T (p.Ala1547Val)	ARID2 (A1547V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129425	NM_152641.4(ARID2):c.4565C>G (p.Thr1522Ser)	ARID2 (T1522S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3129423	NM_152641.4(ARID2):c.3940A>G (p.Ser1314Gly)	ARID2 (S1314G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129422	NM_152641.4(ARID2):c.3838A>G (p.Asn1280Asp)	ARID2 (N1280D)	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 3129420	NM_152641.4(ARID2):c.3402G>T (p.Met1134Ile)	ARID2 (M1134I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129419	NM_152641.4(ARID2):c.3134C>T (p.Ser1045Leu)	ARID2 (S1045L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129418	NM_152641.4(ARID2):c.2969C>T (p.Ser990Leu)	ARID2 (S990L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129417	NM_152641.4(ARID2):c.2832C>A (p.His944Gln)	ARID2 (H944Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129416	NM_152641.4(ARID2):c.2624G>A (p.Gly875Glu)	ARID2 (G875E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129414	NM_152641.4(ARID2):c.2175G>C (p.Gln725His)	ARID2 (Q725H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3129413	NM_152641.4(ARID2):c.1808C>G (p.Ala603Gly)	ARID2 (A603G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3067868	NM_152641.4(ARID2):c.3601_3608del (p.Ile1201fs)	ARID2 (I1201fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 3067751	NM_152641.4(ARID2):c.3342A>G (p.Gln1114=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065605	NM_152641.4(ARID2):c.4186C>T (p.Gln1396Ter)	ARID2 (Q1396*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 3065127	NM_152641.4(ARID2):c.3600_3601insG (p.Ile1201fs)	ARID2 (I1201fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 3054493	NM_152641.4(ARID2):c.3244C>G (p.Pro1082Ala)	ARID2 (P1082A)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 3045223	NM_152641.4(ARID2):c.3339G>A (p.Gly1113=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely 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 3036083	NM_152641.4(ARID2):c.4818G>A (p.Gln1606=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely benign
Select item 3031837	NM_152641.4(ARID2):c.4496T>G (p.Leu1499Arg)	ARID2 (L1499R)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 3031070	NM_152641.4(ARID2):c.3714A>G (p.Lys1238=)	ARID2	Single nucleotide variant (synonymous variant)	ARID2-related disorder	GLikely benign
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 3027166	NM_152641.4(ARID2):c.2664C>G (p.Ala888=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026924	NM_152641.4(ARID2):c.5473A>C (p.Lys1825Gln)	ARID2 (K1825Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026689	NM_152641.4(ARID2):c.419-5G>A	ARID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3026243	NM_152641.4(ARID2):c.4420A>G (p.Thr1474Ala)	ARID2 (T1474A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025522	NM_152641.4(ARID2):c.5244A>G (p.Ser1748=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025378	NM_152641.4(ARID2):c.1868G>A (p.Arg623His)	ARID2 (R623H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3024467	NM_152641.4(ARID2):c.4585G>A (p.Gly1529Arg)	ARID2 (G1529R)	Single nucleotide variant (missense variant)	ARID2-related disorder	GLikely benign
Select item 3013940	NM_152641.4(ARID2):c.1673G>A (p.Arg558His)	ARID2 (R558H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2773288	NM_152641.4(ARID2):c.4534T>G (p.Cys1512Gly)	ARID2 (C1512G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725415	NM_152641.4(ARID2):c.1580+6T>G	ARID2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2691005	NM_152641.4(ARID2):c.869_881del (p.Ala290fs)	ARID2 (A290fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 2688606	NM_152641.4(ARID2):c.3764G>A (p.Gly1255Asp)	ARID2 (G1255D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
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 2688604	NM_152641.4(ARID2):c.5261G>A (p.Arg1754Gln)	ARID2 (R1754Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2672498	NM_152641.4(ARID2):c.4581C>G (p.Val1527=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672497	NM_152641.4(ARID2):c.2036A>C (p.Gln679Pro)	ARID2 (Q679P)	Single nucleotide variant (missense variant)	not provided	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 2671933	NM_152641.4(ARID2):c.542_552del (p.Thr181fs)	ARID2 (T181fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2663772	NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)	ARID2 (R582fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2662310	NM_152641.4(ARID2):c.3776A>C (p.His1259Pro)	ARID2 (H1259P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642918	NM_152641.4(ARID2):c.5364-569_5364-567del	ARID2	Deletion (intron variant)	not provided	GBenign
Select item 2642917	NM_152641.4(ARID2):c.5281G>A (p.Glu1761Lys)	ARID2 (E1761K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642916	NM_152641.4(ARID2):c.4094A>G (p.Asp1365Gly)	ARID2 (D1365G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642915	NM_152641.4(ARID2):c.3689G>A (p.Cys1230Tyr)	ARID2 (C1230Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2642914	NM_152641.4(ARID2):c.3647C>T (p.Thr1216Met)	ARID2 (T1216M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642913	NM_152641.4(ARID2):c.3617C>T (p.Thr1206Met)	ARID2 (T1206M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642912	NM_152641.4(ARID2):c.2437T>A (p.Ser813Thr)	ARID2 (S813T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642911	NM_152641.4(ARID2):c.1952A>C (p.Gln651Pro)	ARID2 (Q651P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2642909	NM_152641.4(ARID2):c.162C>G (p.Val54=)	ARID2, LOC130007728	Single nucleotide variant (synonymous 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 2637735	NM_152641.4(ARID2):c.4153G>A (p.Val1385Ile)	ARID2 (V1385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637707	NM_152641.4(ARID2):c.4976G>A (p.Gly1659Glu)	ARID2 (G1659E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637537	NM_152641.4(ARID2):c.4213_4214delinsTT (p.Asp1405Phe)	ARID2 (D1405F)	Indel (missense variant)	not specified	GUncertain significance
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 2633146	NM_152641.4(ARID2):c.1571C>T (p.Ala524Val)	ARID2 (A524V)	Single nucleotide variant (missense variant)	ARID2-related disorder	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 2630566	NM_152641.4(ARID2):c.2017G>A (p.Gly673Ser)	ARID2 (G673S)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 2630480	NM_152641.4(ARID2):c.1605del (p.Pro536fs)	ARID2 (P536fs)	Deletion (frameshift variant)	ARID2-related disorder	GLikely pathogenic
Select item 2628695	NM_152641.4(ARID2):c.2638A>G (p.Ile880Val)	ARID2 (I880V)	Single nucleotide variant (missense variant)	ARID2-related disorder	GUncertain significance
Select item 2627177	NM_152641.4(ARID2):c.2455C>G (p.Gln819Glu)	ARID2 (Q819E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618673	NM_152641.4(ARID2):c.3847A>T (p.Thr1283Ser)	ARID2 (T1283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2603686	NM_152641.4(ARID2):c.167_171del (p.Thr56fs)	ARID2, LOC130007728 (T56fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2602291	NM_152641.4(ARID2):c.4396A>G (p.Ser1466Gly)	ARID2 (S1466G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 2581866	NM_152641.4(ARID2):c.1498+5G>A	ARID2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2580583	NM_152641.4(ARID2):c.2923T>C (p.Ser975Pro)	ARID2 (S975P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580538	NM_152641.4(ARID2):c.3002C>T (p.Pro1001Leu)	ARID2 (P1001L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578679	NM_152641.4(ARID2):c.5012G>A (p.Gly1671Asp)	ARID2 (G1671D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576807	NM_152641.4(ARID2):c.4940C>T (p.Ser1647Leu)	ARID2 (S1647L)	Single nucleotide variant (missense variant)	not provided	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 2572287	NM_152641.4(ARID2):c.4871C>T (p.Pro1624Leu)	ARID2 (P1624L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2531686	NM_152641.4(ARID2):c.3296A>G (p.Tyr1099Cys)	ARID2 (Y1099C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510798	NM_152641.4(ARID2):c.5183G>A (p.Arg1728Lys)	ARID2 (R1728K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2490214	NM_152641.4(ARID2):c.1537C>G (p.Pro513Ala)	ARID2 (P513A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490121	NM_152641.4(ARID2):c.3967A>C (p.Ser1323Arg)	ARID2 (S1323R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484244	NM_152641.4(ARID2):c.4238A>G (p.Glu1413Gly)	ARID2 (E1413G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469918	NM_152641.4(ARID2):c.4519A>G (p.Asn1507Asp)	ARID2 (N1507D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2444601	NM_152641.4(ARID2):c.3058G>C (p.Ala1020Pro)	ARID2 (A1020P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2439205	NM_152641.4(ARID2):c.1588G>A (p.Ala530Thr)	ARID2 (A530T)	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)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439203	NM_152641.4(ARID2):c.3845A>G (p.Asp1282Gly)	ARID2 (D1282G)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439202	NM_152641.4(ARID2):c.4433T>C (p.Ile1478Thr)	ARID2 (I1478T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	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 2439200	NM_152641.4(ARID2):c.2473T>C (p.Ser825Pro)	ARID2 (S825P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
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

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