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

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442023	NM_000108.5(DLD):c.13A>G (p.Ser5Gly)	DLD (S5G)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2027803	NM_000108.5(DLD):c.40-2A>G	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674847	NM_000108.5(DLD):c.82dup (p.Ser28fs)	DLD (S28fs)	Duplication (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 203672	NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	DLD (T34A)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 370072	NM_000108.5(DLD):c.104dup (p.Tyr35Ter)	DLD (Y35*)	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 553084	NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)	DLD	Deletion (5 prime UTR variant +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)	Pyruvate dehydrogenase E3 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674861	NM_000108.5(DLD):c.119-1G>T	DLD	Single nucleotide variant (splice acceptor variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674859	NM_000108.5(DLD):c.184C>T (p.Gln62Ter)	DLD (Q62*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
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 2582406	NM_000108.5(DLD):c.217A>C (p.Asn73His)	DLD (N73H)	Single nucleotide variant (intron variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2674849	NM_000108.5(DLD):c.225_226del (p.Leu76fs)	DLD (L76fs)	Microsatellite (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 968596	NM_000108.5(DLD):c.583-1G>C	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674863	NM_000108.5(DLD):c.632_633del (p.Lys211fs)	DLD (K112fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 1028071	NM_000108.5(DLD):c.656T>C (p.Ile219Thr)	DLD (I196T +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 11966	NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	DLD (G229C +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency +3 more	GPathogenic
Select item 2674858	NM_000108.5(DLD):c.737del (p.Gly246fs)	DLD (G147fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 424264	NM_000108.5(DLD):c.803_804del (p.Gln268fs)	DLD (Q220fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 960146	NM_000108.5(DLD):c.821dup (p.Leu274fs)	DLD (L274fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 2674852	NM_000108.5(DLD):c.856_857del (p.Asp286fs)	DLD (D187fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674853	NM_000108.5(DLD):c.943C>T (p.Arg315Ter)	DLD (R216* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 854640	NM_000108.5(DLD):c.946C>T (p.Arg316Ter)	DLD (R217* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2674860	NM_000108.5(DLD):c.1016del (p.Val339fs)	DLD (V240fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674851	NM_000108.5(DLD):c.1047-1G>A	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 1346904	NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)	DLD (I254T +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 2674857	NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)	DLD (A264fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 11972	NM_000108.5(DLD):c.1081A>G (p.Met361Val)	DLD (M361V +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 11971	NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	DLD (E375K +3 more)	Single nucleotide variant (missense variant)	DLD-Related Disorders +4 more	GPathogenic/Likely pathogenic
Select item 2674862	NM_000108.5(DLD):c.1185dup (p.His396fs)	DLD (H297fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674864	NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)	DLD (S306* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 2674848	NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)	DLD (S306* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674855	NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)	DLD (E308* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674854	NM_000108.5(DLD):c.1233dup (p.Glu412fs)	DLD (E313fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 203685	NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)	DLD (G461E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 840283	NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)	DLD (Y473fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 1030599	NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)	DLD (I457T +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 11965	NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)	DLD (P488L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 1028070	NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)	DLD (S392P +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 11968	NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)	DLD (R495G +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic

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Items: 39