"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559129	NM_004563.4(PCK2):c.6C>T (p.Ala2=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 374449	NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)	PCK2, NRL (S23*)	Single nucleotide variant (nonsense +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 618264	NM_004563.4(PCK2):c.260C>G (p.Pro87Arg)	NRL, PCK2 (P87R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 559131	NM_004563.4(PCK2):c.372T>C (p.Pro124=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 993618	NM_004563.4(PCK2):c.1079C>T (p.Thr360Ile)	NRL, PCK2 (T226I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 559139	NM_004563.4(PCK2):c.1230A>G (p.Lys410=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 618778	NM_004563.4(PCK2):c.1447A>G (p.Thr483Ala)	NRL, PCK2 (T483A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 993776	NM_001354768.3(NRL):c.-28+11222A>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 618777	NM_004563.4(PCK2):c.1679G>A (p.Arg560Gln)	NRL, PCK2 (R560Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 618263	NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)	NRL, PCK2 (G586S +1 more)	Single nucleotide variant (missense variant +1 more)	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial +2 more	GConflicting classifications of pathogenicity