"3billion"[submitter] AND "ARID2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705351	NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)	ARID2 (W264*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 432360	NM_152641.4(ARID2):c.2758C>T (p.Gln920Ter)	ARID2 (Q920*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6 +1 more	GPathogenic
Select item 1320209	NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter)	ARID2 (Q1013*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1705536	NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)	ARID2 (Q1215*)	Single nucleotide variant (nonsense)	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)	Coffin-Siris syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 1687412	NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs)	ARID2 (Q1648fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic

ClinVar