C0340968[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1511	NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)	PKLR (R510Q +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +2 more	GPathogenic
Select item 2663938	NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)	PKLR (R473C +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +1 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)	Pyruvate kinase hyperactivity +3 more	GPathogenic/Likely pathogenic
Select item 3065956	NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)	PKLR (I440F +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3068128	NM_000298.6(PKLR):c.914G>A (p.Gly305Glu)	PKLR (G274E +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3065566	NM_000298.6(PKLR):c.68T>G (p.Leu23Ter)	PKLR (L23*)	Single nucleotide variant (nonsense)	Pyruvate kinase deficiency of red cells	GLikely pathogenic

ClinVar