ClinVar for MedGen (Select 351328) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Autism +10 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)	Hydrocephalus +25 more	GPathogenic/Likely pathogenic