"Baylor Genetics"[submitter] AND "PC"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030922	NM_001040716.2(PC):c.3496A>G (p.Met1166Val)	PC (M1166V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 21229	NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)	PC (L1137fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 2677477	NM_001040716.2(PC):c.3284dup (p.Met1095fs)	PC (M1095fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2677485	NM_001040716.2(PC):c.3146_3147+1del	PC	Deletion (splice donor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 203917	NM_001040716.2(PC):c.3107G>A (p.Arg1036His)	PC (R1036H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2677482	NM_001040716.2(PC):c.3089del (p.Leu1030fs)	PC (L1030fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 2677479	NM_001040716.2(PC):c.2866dup (p.His956fs)	PC (H956fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2677478	NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)	PC (Q934*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
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 2677474	NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)	PC (Y845*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2677471	NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)	PC (Y845fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 556347	NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)	PC	Microsatellite (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2582385	NM_001040716.2(PC):c.2492T>C (p.Val831Ala)	PC (V831A)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2677481	NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)	PC (E664fs)	Microsatellite (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2677476	NM_001040716.2(PC):c.1980del (p.Phe660fs)	PC (F660fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
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 2677480	NM_001040716.2(PC):c.1826-1G>C	PC	Single nucleotide variant (splice acceptor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1030921	NM_001040716.2(PC):c.1825+3A>C	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2677475	NM_001040716.2(PC):c.1825+2T>G	PC	Single nucleotide variant (splice donor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2677486	NM_001040716.2(PC):c.1799dup (p.Leu601fs)	PC (L601fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2172239	NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)	PC (R547*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 1030920	NM_024036.5(LRFN4):c.1882G>T (p.Glu628Ter)	LRFN4, PC (E628*)	Single nucleotide variant (nonsense +1 more)	Pyruvate carboxylase deficiency	GPathogenic
Select item 448903	NM_001040716.2(PC):c.1368+1G>A	PC	Single nucleotide variant (splice donor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 436166	NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)	PC (R453*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic/Likely pathogenic
Select item 2097	NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)	PC (R451C)	Single nucleotide variant (missense 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 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 2677484	NM_001040716.2(PC):c.634-1G>A	PC	Single nucleotide variant (splice acceptor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
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 2441654	NM_001040716.2(PC):c.488-6C>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2677473	NM_001040716.2(PC):c.370C>T (p.Arg124Ter)	PC (R124*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2677472	NM_001040716.2(PC):c.295del (p.Ile99fs)	PC (I99fs)	Deletion (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2677483	NM_001040716.2(PC):c.156dup (p.Phe53fs)	PC (F53fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
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 1032490	NM_001040716.2(PC):c.1-4C>A	PC	Single nucleotide variant (intron variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic

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Items: 38