"Pathology and Clinical Laboratory Medicine, King Fahad Medical City"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339496	NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)	PC (R760W)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 982091	NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)	PC (Q494*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic
Select item 550614	NM_001040716.2(PC):c.806G>A (p.Arg269Gln)	PC (R269Q)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity

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