ClinVar for MedGen (Select 1645733) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164995	NM_006660.5(CLPX):c.1146+13G>A	CLPX	Single nucleotide variant (non-coding transcript variant +1 more)	Protoporphyria, erythropoietic, 2 +1 more	GBenign
Select item 545573	NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)	CLPX (G298D)	Single nucleotide variant (missense variant +1 more)	Protoporphyria, erythropoietic, 2	GLikely pathogenic