"ARID2-related BAFopathy"[Disease/phenotype] AND "Baylor Genetics"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177333	NM_152641.4(ARID2):c.156_157del (p.Arg53fs)	ARID2, LOC130007728 (R53fs)	Deletion (frameshift variant)	ARID2-related BAFopathy	GPathogenic
Select item 1031208	NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)	ARID2 (R274*)	Single nucleotide variant (nonsense)	ARID2-related BAFopathy +1 more	GLikely 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 1177338	NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser)	ARID2 (I943S)	Single nucleotide variant (missense variant)	ARID2-related BAFopathy	GLikely pathogenic
Select item 1034327	NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter)	ARID2 (Q1676*)	Single nucleotide variant (nonsense)	ARID2-related BAFopathy +1 more	GPathogenic

ClinVar