"Baylor Genetics"[submitter] AND "ARID2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1177333	NM_152641.4(ARID2):c.156_157del (p.Arg53fs)	ARID2, LOC130007728 (R53fs)	Deletion (frameshift variant)	ARID2-related BAFopathy	GPathogenic
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 2671933	NM_152641.4(ARID2):c.542_552del (p.Thr181fs)	ARID2 (T181fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1031208	NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)	ARID2 (R274*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1177334	NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs)	ARID2 (Y423fs)	Duplication (frameshift variant)	ARID2-related BAFopathy	GPathogenic
Select item 1177335	NM_152641.4(ARID2):c.1284_1288del (p.Met428fs)	ARID2 (M428fs)	Deletion (frameshift variant)	ARID2-related BAFopathy	GLikely pathogenic
Select item 1177336	NM_152641.4(ARID2):c.1580+1G>A	ARID2	Single nucleotide variant (splice donor variant)	ARID2-related BAFopathy	GPathogenic
Select item 1177337	NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter)	ARID2 (Q820*)	Single nucleotide variant (nonsense)	ARID2-related BAFopathy	GPathogenic
Select item 1034324	NM_152641.4(ARID2):c.2556G>T (p.Gln852His)	ARID2 (Q852H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1177338	NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser)	ARID2 (I943S)	Single nucleotide variant (missense variant)	ARID2-related BAFopathy	GLikely pathogenic
Select item 1034325	NM_152641.4(ARID2):c.3694A>G (p.Thr1232Ala)	ARID2 (T1232A)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1031206	NM_152641.4(ARID2):c.4125C>T (p.Asn1375=)	ARID2	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1034327	NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter)	ARID2 (Q1676*)	Single nucleotide variant (nonsense)	ARID2-related BAFopathy +1 more	GPathogenic