ClinVar for MedGen (Select 1646931) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 598976	NM_004115.4(FGF14):c.486dup (p.Arg163fs)	FGF14 (R116fs +8 more)	Duplication (frameshift variant)	Cryptorchidism +17 more	GLikely pathogenic
Select item 159315	NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	NSD1 (W1280* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +19 more	GPathogenic

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