"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PKLR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449546	NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)	PKLR (E538D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235407	NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)	PKLR (V506I +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +2 more	GConflicting classifications of pathogenicity
Select item 1513	NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	PKLR (R486W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 225440	NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)	PKLR (V460A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 280113	NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)	PKLR (E241* +1 more)	Single nucleotide variant (nonsense)	Pyruvate kinase hyperactivity +2 more	GPathogenic
Select item 292815	NM_000298.6(PKLR):c.391_393del (p.Ile131del)	PKLR (I131del +1 more)	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar