C0034341[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726517	NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)	PC (E991*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726352	NM_001040716.2(PC):c.2804_2805del (p.Ala935fs)	PC (A935fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725131	NM_001040716.2(PC):c.2695del (p.Gln899fs)	PC (Q899fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725388	NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)	PC (K892*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725949	NM_001040716.2(PC):c.2591dup (p.Asn864fs)	PC (N864fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725127	NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)	PC (S859*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724418	NM_001040716.2(PC):c.2413_2415delinsTGTATAAGAGACAG (p.Thr805fs)	PC (T805fs)	Indel (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725493	NM_001040716.2(PC):c.2369del (p.Gly790fs)	PC (G790fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725910	NM_001040716.2(PC):c.2359dup (p.Ala787fs)	PC (A787fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725069	NM_001040716.2(PC):c.2292del (p.Asp765fs)	PC (D765fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724956	NM_001040716.2(PC):c.2185del (p.Glu729fs)	PC (E729fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724331	NM_001040716.2(PC):c.2113_2114del (p.Ser705fs)	PC (S705fs)	Microsatellite (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724347	NM_001040716.2(PC):c.1745_1746del (p.Val582fs)	PC (V582fs)	Microsatellite (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726878	NM_001040716.2(PC):c.1621_1623delinsAT (p.Phe541fs)	PC (F541fs)	Indel (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725793	NM_001040716.2(PC):c.1574del (p.Thr525fs)	PC (T525fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725821	NM_001040716.2(PC):c.1564_1565insAG (p.Pro522fs)	PC (P522fs)	Insertion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725433	NM_001040716.2(PC):c.1560del (p.Ser521fs)	PC (S521fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725807	NM_001040716.2(PC):c.1533_1549del (p.Pro512fs)	PC (P512fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726493	NM_001040716.2(PC):c.1536_1537insG (p.Thr513fs)	PC (T513fs)	Insertion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725791	NM_001040716.2(PC):c.1526_1529del (p.Val509fs)	PC (V509fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725780	NM_001040716.2(PC):c.1520del (p.Val507fs)	PC (V507fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724981	NM_001040716.2(PC):c.1296_1304delinsGGCC (p.His432fs)	PC (H432fs)	Indel (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725508	NM_001040716.2(PC):c.885_888del (p.Val296fs)	PC (V296fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725334	NM_001040716.2(PC):c.764_765del (p.Gly255fs)	PC (G255fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725076	NM_001040716.2(PC):c.731_732insGGCTTGGGATGGAG (p.His244fs)	PC (H244fs)	Insertion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725742	NM_001040716.2(PC):c.706G>T (p.Glu236Ter)	PC (E236*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724555	NM_001040716.2(PC):c.597_606delinsAA (p.Gly200fs)	PC (G200fs)	Indel (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726731	NM_001040716.2(PC):c.342_343insTTATATT (p.His115fs)	PC (H115fs)	Insertion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726118	NM_001040716.2(PC):c.329dup (p.Asn110fs)	PC (N110fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726269	NM_001040716.2(PC):c.281_282insCCTT (p.Gln94fs)	PC (Q94fs)	Insertion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724661	NM_001040716.2(PC):c.280C>T (p.Gln94Ter)	PC (Q94*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726789	NM_001040716.2(PC):c.248_249insACTCACCCAAGAT (p.Tyr84fs)	PC (Y84fs)	Insertion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726966	NM_001040716.2(PC):c.239_240insCTTGA (p.Asp81fs)	PC (D81fs)	Insertion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725696	NM_001040716.2(PC):c.220C>T (p.Gln74Ter)	PC (Q74*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725946	NM_001040716.2(PC):c.200_201del (p.Tyr67fs)	PC (Y67fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1726054	NM_001040716.2(PC):c.106_107delinsAGACAGT (p.Pro36fs)	PC (P36fs)	Indel (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1725626	NM_001040716.2(PC):c.88del (p.Arg30fs)	PC (R30fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1724724	NM_001040716.2(PC):c.44del (p.Gly15fs)	PC (G15fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic

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Items: 38