"GenomeConnect - Brain Gene Registry"[submitter] AND "ARID1B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578380	NM_001374828.1(ARID1B):c.1400del (p.Gly467fs)	ARID1B (G467fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	Gnot provided
Select item 1098582	NM_001374828.1(ARID1B):c.2073dup (p.His692fs)	ARID1B (H692fs +1 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 199160	NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)	ARID1B (R898* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +2 more	GPathogenic
Select item 620170	NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter)	ARID1B (Q1179* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1184336	NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter)	ARID1B (Q1331* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 2505070	NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)	ARID1B (N1240S +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	Gnot provided

ClinVar