C5574660[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371615	NM_000108.5(DLD):c.39+1G>A	DLD	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 371579	NM_000108.5(DLD):c.82del (p.Ser28fs)	DLD (S28fs)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 553084	NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)	DLD	Deletion (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 421142	NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)	DLD (Y35*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370700	NM_000108.5(DLD):c.112C>T (p.Gln38Ter)	DLD (Q38*)	Single nucleotide variant (nonsense +1 more)	DLD-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 557660	NM_000108.5(DLD):c.118+1G>T	DLD	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 424265	NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)	DLD (Y54C)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 556283	NM_000108.5(DLD):c.198+1G>A	DLD	Single nucleotide variant (splice donor variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 552664	NM_000108.5(DLD):c.199-1G>A	DLD	Single nucleotide variant (splice acceptor variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 371362	NM_000108.5(DLD):c.223dup (p.Thr75fs)	DLD (T75fs)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 556197	NM_000108.5(DLD):c.268-2A>G	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 551198	NM_000108.5(DLD):c.338-2_338-1delinsT	DLD	Indel (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 550203	NM_000108.5(DLD):c.345del (p.Val116fs)	DLD (V116fs +2 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 555321	NM_000108.5(DLD):c.439-6G>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GConflicting classifications of pathogenicity
Select item 371111	NM_000108.5(DLD):c.633dup (p.Val212fs)	DLD (V113fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 424264	NM_000108.5(DLD):c.803_804del (p.Gln268fs)	DLD (Q220fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 557852	NM_000108.5(DLD):c.865dup (p.Ile289fs)	DLD (I266fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 553091	NM_000108.5(DLD):c.1236+1G>T	DLD	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 555593	NM_000108.5(DLD):c.1421del (p.Gly474fs)	DLD (G426fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 554494	NM_000108.5(DLD):c.1429_1432del (p.Cys477fs)	DLD (C429fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 550498	NM_000108.5(DLD):c.1440A>G (p.Ile480Met)	DLD (I480M +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GConflicting classifications of pathogenicity
Select item 551065	NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)	DLD (R482fs +3 more)	Microsatellite (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 558106	NM_000108.5(DLD):c.1463del (p.Pro488fs)	DLD (P440fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GConflicting classifications of pathogenicity
Select item 371542	NM_000108.5(DLD):c.1520_1523del (p.Ile507fs)	DLD (I408fs +3 more)	Microsatellite (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 557409	NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)	DLD	Single nucleotide variant (stop lost)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance

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Items: 25