ClinVar for MedGen (Select 138012) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870076	NM_004415.4(DSP):c.1388T>C (p.Leu463Pro)	DSP (L463P)	Single nucleotide variant (missense variant)	Ventricular tachycardia +4 more	GUncertain significance
Select item 333652	NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)	BMPR2 (R983Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database