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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555085	NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)	PC (I1123fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 550651	NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del)	PC (F1078del)	Microsatellite (inframe_deletion)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 554982	NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs)	PC (F1048fs)	Indel (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 554072	NM_001040716.2(PC):c.2974_2976del (p.Lys992del)	PC (K992del)	Deletion (inframe_deletion)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 203924	NM_001040716.2(PC):c.2723C>T (p.Thr908Met)	PC (T908M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557387	NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del)	PC (I905del)	Microsatellite (inframe_deletion)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 555800	NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup)	PC	Duplication (inframe_insertion)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 554403	NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)	PC (G869D)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 556347	NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)	PC	Microsatellite (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 21222	NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	PC (R631Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554387	NM_001040716.2(PC):c.1225_1227del (p.Asn409del)	PC (N409del)	Deletion (inframe_deletion)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 426656	NM_001040716.2(PC):c.1185+5_1185+8del	PC	Deletion (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 379685	NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)	PC (I394T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 556666	NM_001040716.2(PC):c.1022+1G>A	LOC130006142, PC	Single nucleotide variant (splice donor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
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
Select item 381581	NM_001040716.2(PC):c.796T>G (p.Ser266Ala)	PC (S266A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203916	NM_001040716.2(PC):c.786G>T (p.Glu262Asp)	PC (E262D)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 556105	NM_001040716.2(PC):c.633+38_633+58del	PC	Deletion (intron variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 551488	NM_001040716.2(PC):c.633+2T>C	PC	Single nucleotide variant (splice donor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 552671	NM_001040716.2(PC):c.584C>T (p.Ala195Val)	PC (A195V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 2100	NM_001040716.2(PC):c.467G>A (p.Arg156Gln)	PC (R156Q)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 554170	NM_001040716.2(PC):c.52C>T (p.Arg18Ter)	PC (R18*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 555295	NM_001040716.2(PC):c.1-35661G>T	PC	Single nucleotide variant (intron variant +1 more)	Pyruvate carboxylase deficiency	GUncertain significance

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Items: 23