"Revvity Omics, Revvity"[submitter] AND "PC"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203917	NM_001040716.2(PC):c.3107G>A (p.Arg1036His)	PC (R1036H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 451495	NM_001040716.2(PC):c.3008C>T (p.Thr1003Met)	PC (T1003M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2434588	NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)	PC (S880G)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2434590	NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)	PC (G869S)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2689663	NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)	PC (S856C)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2196364	NM_001040716.2(PC):c.2285G>A (p.Arg762His)	PC (R762H)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2434587	NM_001040716.2(PC):c.2223+4C>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 1324850	NM_001040716.2(PC):c.2194C>T (p.Arg732Ter)	PC (R732*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2434585	NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)	PC (K667R)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 1323416	NM_001040716.2(PC):c.1186-1G>T	PC	Single nucleotide variant (splice acceptor variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2159189	NM_001040716.2(PC):c.1103G>A (p.Arg368His)	PC (R368H)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2434586	NM_001040716.2(PC):c.1093_1095del (p.Glu365del)	PC (E365del)	Deletion (inframe_deletion)	Pyruvate carboxylase deficiency	GUncertain significance