"Revvity Omics, Revvity"[submitter] AND "ARID2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 2688604	NM_152641.4(ARID2):c.5261G>A (p.Arg1754Gln)	ARID2 (R1754Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance