"Mendelics"[submitter] AND "PC"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685393	NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)	PC (R406C)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 802690	NM_001040716.2(PC):c.815A>G (p.Gln272Arg)	PC (Q272R)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 203921	NM_001040716.2(PC):c.788G>A (p.Arg263Gln)	PC (R263Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

Format

Sort by

Choose Destination

ClinVar