Related gene-specific medical variations for Gene (Select 196528) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3027272	NM_152641.4(ARID2):c.89G>C (p.Arg30Thr)	ARID2, LOC130007728 (R30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2576078	NM_152641.4(ARID2):c.1487C>T (p.Ala496Val)	ARID2 (A496V)	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
Select item 2439198	NM_152641.4(ARID2):c.3608T>C (p.Met1203Thr)	ARID2 (M1203T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439197	NM_152641.4(ARID2):c.4087G>A (p.Asp1363Asn)	ARID2 (D1363N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2429828	NM_152641.4(ARID2):c.4693G>A (p.Val1565Ile)	ARID2 (V1565I)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
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 1706208	NM_152641.4(ARID2):c.124G>C (p.Gly42Arg)	ARID2, LOC130007728 (G42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701711	NM_152641.4(ARID2):c.4568A>G (p.Asp1523Gly)	ARID2 (D1523G)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
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 1700146	NM_152641.4(ARID2):c.1110_1120+9del	ARID2	Deletion (splice donor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1676456	NM_152641.4(ARID2):c.3938A>C (p.Gln1313Pro)	ARID2 (Q1313P)	Single nucleotide variant	not provided	GUncertain significance
Select item 1527708	GRCh37/hg19 12q12(chr12:46207100-46242644)	ARID2	Copy number loss	not specified	GLikely pathogenic
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 1319845	NM_152641.4(ARID2):c.1122C>T (p.Gly374=)	ARID2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1177333	NM_152641.4(ARID2):c.156_157del (p.Arg53fs)	ARID2, LOC130007728 (R53fs)	Deletion (frameshift variant)	ARID2-related BAFopathy	GPathogenic
Select item 1170960	NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del	ARID2	Deletion	Coffin-Siris syndrome 6	GPathogenic
Select item 1170954	NM_152641.4(ARID2):c.118dup (p.Val40fs)	ARID2, LOC130007728 (V40fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 988908	GRCh37/hg19 12q12(chr12:46177220-46213044)x1	ARID2	Copy number loss	not provided	GPathogenic
Select item 977421	NM_152641.4(ARID2):c.2233C>G (p.Gln745Glu)	ARID2 (Q745E)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 931731	NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs)	ARID2 (A1547fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 806868	NM_152641.4(ARID2):c.2070_2076del (p.His691fs)	ARID2 (H691fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 757379	NM_152641.4(ARID2):c.92+7G>A	ARID2, LOC130007728	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 735102	NM_152641.4(ARID2):c.180C>T (p.Phe60=)	ARID2, LOC130007728	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 6 +1 more	GBenign/Likely benign
Select item 684972	GRCh37/hg19 12q12(chr12:46079151-46258348)x1	ARID2	Copy number loss	not provided	GPathogenic
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 448920	NM_152641.4(ARID2):c.156del (p.Arg53fs)	ARID2, LOC130007728 (R53fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
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 133569	NM_152641.4(ARID2):c.4438G>C (p.Gly1480Arg)	ARID2 (G1480R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133567	NM_152641.4(ARID2):c.3118G>A (p.Val1040Ile)	ARID2 (V1040I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133563	NM_152641.4(ARID2):c.4223A>G (p.Lys1408Arg)	ARID2 (K1408R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133561	NM_152641.4(ARID2):c.2579A>G (p.Asn860Ser)	ARID2 (N860S)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 50