"ITMI"[submitter] AND "ARID2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 133573	NM_152641.4(ARID2):c.227T>G (p.Phe76Cys)	ARID2 (F76C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133574	NM_152641.4(ARID2):c.292G>A (p.Glu98Lys)	ARID2 (E98K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 133559	NM_152641.4(ARID2):c.1759A>G (p.Ser587Gly)	ARID2 (S587G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133560	NM_152641.4(ARID2):c.1808C>T (p.Ala603Val)	ARID2 (A603V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6 +1 more	GLikely benign
Select item 133566	NM_152641.4(ARID2):c.2428G>C (p.Ala810Pro)	ARID2 (A810P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133561	NM_152641.4(ARID2):c.2579A>G (p.Asn860Ser)	ARID2 (N860S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133562	NM_152641.4(ARID2):c.2764A>G (p.Thr922Ala)	ARID2 (T922A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133564	NM_152641.4(ARID2):c.3068C>T (p.Pro1023Leu)	ARID2 (P1023L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 133568	NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser)	ARID2 (A1434S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6 +1 more	GBenign
Select item 133569	NM_152641.4(ARID2):c.4438G>C (p.Gly1480Arg)	ARID2 (G1480R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133570	NM_152641.4(ARID2):c.4492G>A (p.Ala1498Thr)	ARID2 (A1498T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133565	NM_152641.4(ARID2):c.4510C>T (p.Arg1504Trp)	ARID2 (R1504W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133571	NM_152641.4(ARID2):c.4705G>A (p.Ala1569Thr)	ARID2 (A1569T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133572	NM_152641.4(ARID2):c.4945G>C (p.Val1649Leu)	ARID2 (V1649L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign