"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133558	NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser)	ARID2 (T491S)	Single nucleotide variant (missense variant)	ARID2-related disorder +3 more	GBenign/Likely benign
Select item 1285399	NM_152641.4(ARID2):c.1716-2A>G	ARID2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1285520	NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs)	ARID2 (T1514fs)	Indel (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic

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