"Dr. med. U. Finckh, Human Genetics, Eurofins MVZ"[submitter] AND "ARI - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580952	NM_001374828.1(ARID1B):c.4785T>G (p.Pro1595=)	ARID1B	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2580987	NM_001374828.1(ARID1B):c.5323A>G (p.Thr1775Ala)	ARID1B (T1581A +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GLikely benign
Select item 2505555	NM_001374828.1(ARID1B):c.6723C>T (p.Tyr2241=)	ARID1B	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1	GLikely benign

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ClinVar