ClinVar for MedGen (Select 394385) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234045	NM_000032.5(ALAS2):c.1532G>T (p.Arg511Leu)	ALAS2 (R474L +2 more)	Single nucleotide variant (missense variant)	X-linked erythropoietic protoporphyria	GUncertain significance
Select item 3065338	NM_000032.5(ALAS2):c.1168+19C>A	ALAS2	Single nucleotide variant (intron variant)	X-linked erythropoietic protoporphyria	GUncertain significance
Select item 449992	NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val)	ALAS2 (L353V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 60674	NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs)	ALAS2 (S538fs +2 more)	Deletion (frameshift variant)	X-linked erythropoietic protoporphyria	GPathogenic
Select item 60673	NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter)	ALAS2 (Q548* +2 more)	Single nucleotide variant (nonsense)	X-linked erythropoietic protoporphyria	GPathogenic
Select item 40978	NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)	ALAS2 (Y586F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10483	NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)	ALAS2 (M530fs +2 more)	Deletion (frameshift variant)	X-linked erythropoietic protoporphyria	GPathogenic
Select item 10482	NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)	ALAS2 (E532fs +2 more)	Microsatellite (frameshift variant)	Erythema +1 more	GPathogenic/Likely pathogenic

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