C0034341[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305607	NM_001040716.2(PC):c.*373C>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305608	NM_001040716.2(PC):c.*353A>G	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305609	NM_001040716.2(PC):c.*203T>C	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 879760	NM_001040716.2(PC):c.*188G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305610	NM_001040716.2(PC):c.*185G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305611	NM_001040716.2(PC):c.*164dup	PC	Duplication (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305612	NM_001040716.2(PC):c.*161C>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877797	NM_001040716.2(PC):c.*106G>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GBenign
Select item 877798	NM_001040716.2(PC):c.*101G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877799	NM_001040716.2(PC):c.*89G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 877800	NM_001040716.2(PC):c.*88G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305613	NM_001040716.2(PC):c.*43C>T	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305614	NM_001040716.2(PC):c.*15G>A	PC	Single nucleotide variant (3 prime UTR variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 744899	NM_001040716.2(PC):c.3531C>T (p.Ile1177=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 795761	NM_001040716.2(PC):c.3483T>C (p.His1161=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305615	NM_001040716.2(PC):c.3473G>A (p.Arg1158His)	PC (R1158H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 878841	NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)	PC (V1148L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305616	NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)	PC (M1145I)	Single nucleotide variant (missense variant)	PC-related condition +2 more	GConflicting classifications of pathogenicity
Select item 878842	NM_001040716.2(PC):c.3399G>A (p.Lys1133=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 878843	NM_001040716.2(PC):c.3364G>C (p.Asp1122His)	PC (D1122H)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305617	NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)	PC (A1114V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879421	NM_001040716.2(PC):c.3288+5T>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 879422	NM_001040716.2(PC):c.3213C>T (p.Ala1071=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305618	NM_001040716.2(PC):c.3198C>T (p.Ser1066=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879423	NM_001040716.2(PC):c.3148-14C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
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 879424	NM_001040716.2(PC):c.3004G>A (p.Val1002Met)	PC (V1002M)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 770976	NM_001040716.2(PC):c.2899-9G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 203915	NM_001040716.2(PC):c.2804C>T (p.Ala935Val)	PC (A935V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879802	NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)	PC (R928Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305619	NM_001040716.2(PC):c.2719-5_2719-3del	PC	Microsatellite (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305620	NM_001040716.2(PC):c.2705G>A (p.Gly902Asp)	PC (G902D)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 203902	NM_001040716.2(PC):c.2682T>C (p.Tyr894=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 21227	NM_001040716.2(PC):c.2619C>T (p.Asn873=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 719044	NM_001040716.2(PC):c.2592T>C (p.Asn864=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 138581	NM_001040716.2(PC):c.2580C>T (p.Asp860=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 203900	NM_001040716.2(PC):c.2577G>A (p.Ser859=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign
Select item 138580	NM_001040716.2(PC):c.2550C>T (p.Cys850=)	PC	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 305621	NM_001040716.2(PC):c.2292C>G (p.Pro764=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877857	NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)	PC (D761N)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 138578	NM_001040716.2(PC):c.2224-9T>G	PC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 877858	NM_001040716.2(PC):c.2224-14C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305622	NM_001040716.2(PC):c.2224-31TC[8]	PC	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877859	NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)	PC (R715C)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877860	NM_001040716.2(PC):c.2019C>A (p.Val673=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 632169	NM_001040716.2(PC):c.1825+1G>A	PC	Single nucleotide variant (splice donor variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 877861	NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)	PC (D586N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 305623	NM_001040716.2(PC):c.1702A>G (p.Thr568Ala)	PC (T568A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 878019	NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)	PC (R555Q)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305624	NM_001040716.2(PC):c.1646G>A (p.Gly549Glu)	PC (G549E)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 203896	NM_001040716.2(PC):c.1608G>A (p.Pro536=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GBenign/Likely benign
Select item 792985	NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)	PC (P530L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 743393	NM_001040716.2(PC):c.1530C>T (p.Asn510=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305625	NM_001040716.2(PC):c.1514-6C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 878020	NM_001040716.2(PC):c.1514-13G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 878021	NM_001040716.2(PC):c.1513+14C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 203893	NM_001040716.2(PC):c.1513+13del	PC	Deletion (intron variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 129879	NM_001040716.2(PC):c.1513+9C>A	PC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 879483	NM_001040716.2(PC):c.1513+6G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 508931	NM_001040716.2(PC):c.1446C>T (p.Asp482=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 305626	NM_001040716.2(PC):c.1401C>T (p.Asn467=)	PC	Single nucleotide variant (synonymous variant)	PC-related condition +2 more	GBenign/Likely benign
Select item 879484	NM_001040716.2(PC):c.1377C>T (p.Ile459=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 138585	NM_001040716.2(PC):c.1368+11G>A	PC	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 203909	NM_001040716.2(PC):c.1344G>A (p.Ala448=)	PC	Single nucleotide variant (synonymous variant)	PC-related condition +2 more	GBenign/Likely benign
Select item 879485	NM_001040716.2(PC):c.1266C>T (p.Tyr422=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305627	NM_001040716.2(PC):c.1233C>T (p.Ser411=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305628	NM_001040716.2(PC):c.1167G>A (p.Pro389=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 388378	NM_001040716.2(PC):c.1023-14C>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 305629	NM_001040716.2(PC):c.1023-14C>G	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305630	NM_001040716.2(PC):c.927C>T (p.Thr309=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 879843	NM_001040716.2(PC):c.904-11C>T	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305631	NM_001040716.2(PC):c.879C>T (p.Ser293=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879844	NM_001040716.2(PC):c.841G>A (p.Ala281Thr)	PC (A281T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877905	NM_001040716.2(PC):c.751+13G>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305632	NM_001040716.2(PC):c.715A>G (p.Ile239Val)	PC (I239V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203920	NM_001040716.2(PC):c.616G>T (p.Val206Leu)	PC (V206L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 877906	NM_001040716.2(PC):c.563G>T (p.Gly188Val)	PC (G188V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305633	NM_001040716.2(PC):c.543C>T (p.His181=)	PC	Single nucleotide variant (synonymous variant)	PC-related condition +1 more	GConflicting classifications of pathogenicity
Select item 203919	NM_001040716.2(PC):c.496G>A (p.Val166Ile)	PC (V166I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 511488	NM_001040716.2(PC):c.486G>A (p.Ala162=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 138583	NM_001040716.2(PC):c.216G>A (p.Thr72=)	PC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 203907	NM_001040716.2(PC):c.89G>A (p.Arg30Gln)	PC (R30Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 878071	NM_001040716.2(PC):c.78C>A (p.Ser26=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GConflicting classifications of pathogenicity
Select item 305634	NM_001040716.2(PC):c.75C>T (p.Ala25=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 878072	NM_001040716.2(PC):c.64G>A (p.Ala22Thr)	PC (A22T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305635	NM_001040716.2(PC):c.52C>A (p.Arg18=)	PC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 878073	NM_001040716.2(PC):c.-272G>A	LOC130006147, PC	Single nucleotide variant (5 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 305636	NM_001040716.2(PC):c.-274A>C	LOC130006147, PC	Single nucleotide variant (5 prime UTR variant)	Pyruvate carboxylase deficiency	GBenign
Select item 305637	NM_001040716.2(PC):c.-282G>A	LOC130006147, PC	Single nucleotide variant (5 prime UTR variant)	Pyruvate carboxylase deficiency	GUncertain significance

ClinVar

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Items: 89