ClinVar for MedGen (Select 140900) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523335	NM_000138.5(FBN1):c.7829A>G (p.Glu2610Gly)	FBN1 (E2610G)	Single nucleotide variant (missense variant)	Striae distensae +2 more	GLikely pathogenic
Select item 333652	NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)	BMPR2 (R983Q)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benignFDA Recognized database