ClinVar for MedGen (Select 869206) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523408	NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)	BCOR (T1531A +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +4 more	GUncertain significance
Select item 13271	NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	FGFR2 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	Meier-Gorlin syndrome 1 +26 more	GPathogenic/Likely pathogenic