"GeneDx"[submitter] AND "DLD"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 559300	NM_000108.3(DLD):c.-417A>T	DLD	Single nucleotide variant	not provided	GBenign
Select item 377771	NM_000108.5(DLD):c.-42C>T	DLD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 510914	NM_000108.5(DLD):c.-31G>A	DLD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 392114	NM_000108.5(DLD):c.-7C>G	DLD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137103	NM_000108.5(DLD):c.34G>A (p.Ala12Thr)	DLD (A12T)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +4 more	GBenign/Likely benign
Select item 1233888	NM_000108.5(DLD):c.39+99dup	DLD	Duplication (intron variant)	not provided	GBenign
Select item 1272542	NM_000108.5(DLD):c.39+199G>A	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205407	NM_000108.5(DLD):c.39+209C>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201802	NM_000108.5(DLD):c.39+317G>C	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 578582	NM_000108.5(DLD):c.55C>G (p.Arg19Gly)	DLD (R19G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 203683	NM_000108.5(DLD):c.82T>C (p.Ser28Pro)	DLD (S28P)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GUncertain significance
Select item 680924	NM_000108.5(DLD):c.96G>C (p.Leu32=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 370072	NM_000108.5(DLD):c.104dup (p.Tyr35Ter)	DLD (Y35*)	Duplication (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GPathogenic
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 1211682	NM_000108.5(DLD):c.118+191C>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268506	NM_000108.5(DLD):c.119-85G>A	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196506	NM_000108.5(DLD):c.119-79T>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507084	NM_000108.5(DLD):c.119-4G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
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 203674	NM_000108.5(DLD):c.182C>T (p.Ala61Val)	DLD (A61V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 203675	NM_000108.5(DLD):c.185A>G (p.Gln62Arg)	DLD (Q62R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1187496	NM_000108.5(DLD):c.198+253A>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215325	NM_000108.5(DLD):c.199-210A>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175368	NM_000108.5(DLD):c.199-108T>C	DLD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 680355	NM_000108.5(DLD):c.199-6T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 422088	NM_000108.5(DLD):c.209T>C (p.Ile70Thr)	DLD (I70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 422089	NM_000108.5(DLD):c.236C>T (p.Thr79Ile)	DLD (T79I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137092	NM_000108.5(DLD):c.249T>C (p.Val83=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency +4 more	GBenign
Select item 1311933	NM_000108.5(DLD):c.263C>T (p.Ser88Phe)	DLD (S88F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1216046	NM_000108.5(DLD):c.267+117C>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671369	NM_000108.5(DLD):c.267+235C>T	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193076	NM_000108.5(DLD):c.268-291C>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193140	NM_000108.5(DLD):c.268-104G>A	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377772	NM_000108.5(DLD):c.282C>T (p.Asn94=)	DLD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 203677	NM_000108.5(DLD):c.306T>A (p.His102Gln)	DLD (H102Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382483	NM_000108.5(DLD):c.321A>G (p.Ala107=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase complex deficiency +3 more	GConflicting classifications of pathogenicity
Select item 678334	NM_000108.5(DLD):c.337+105A>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196318	NM_000108.5(DLD):c.337+154A>C	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683735	NM_000108.5(DLD):c.337+216C>G	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219124	NM_000108.5(DLD):c.338-282G>A	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203551	NM_000108.5(DLD):c.338-81T>A	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137093	NM_000108.5(DLD):c.338-18T>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1187878	NM_000108.5(DLD):c.438+43A>C	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175369	NM_000108.5(DLD):c.438+83G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GBenign
Select item 137094	NM_000108.5(DLD):c.439-7T>C	DLD	Single nucleotide variant (intron variant)	Leigh syndrome +4 more	GBenign/Likely benign
Select item 2579763	NM_000108.5(DLD):c.461G>A (p.Gly154Glu)	DLD (G131E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 510967	NM_000108.5(DLD):c.507C>T (p.Gly169=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency +3 more	GBenign/Likely benign
Select item 137095	NM_000108.5(DLD):c.543A>T (p.Ile181=)	DLD	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 736174	NM_000108.5(DLD):c.549G>A (p.Thr183=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GBenign/Likely benign
Select item 1251516	NM_000108.5(DLD):c.582+267G>T	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190344	NM_000108.5(DLD):c.583-79T>C	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258940	NM_000108.5(DLD):c.583-71A>G	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706710	NM_000108.5(DLD):c.656T>A (p.Ile219Asn)	DLD (I120N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203670	NM_000108.5(DLD):c.675T>C (p.Gly225=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GBenign
Select item 137096	NM_000108.5(DLD):c.684+7G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +4 more	GBenign
Select item 1202686	NM_000108.5(DLD):c.684+105G>C	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676116	NM_000108.5(DLD):c.684+124A>G	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683738	NM_000108.5(DLD):c.684+189G>C	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199965	NM_000108.5(DLD):c.685-153A>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137097	NM_000108.5(DLD):c.685-14T>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +4 more	GBenign
Select item 11966	NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	DLD (G229C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 203679	NM_000108.5(DLD):c.722C>T (p.Ala241Val)	DLD (A241V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 203680	NM_000108.5(DLD):c.763A>C (p.Met255Leu)	DLD (M255L +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1212774	NM_000108.5(DLD):c.764T>C (p.Met255Thr)	DLD (M156T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137098	NM_000108.5(DLD):c.777A>G (p.Lys259=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency +4 more	GBenign
Select item 203681	NM_000108.5(DLD):c.788G>A (p.Arg263His)	DLD (R263H +3 more)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
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 203682	NM_000108.5(DLD):c.826A>T (p.Thr276Ser)	DLD (T276S +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 358569	NM_000108.5(DLD):c.860G>A (p.Gly287Glu)	DLD (G287E +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency +4 more	GUncertain significance
Select item 203671	NM_000108.5(DLD):c.869A>G (p.Asp290Gly)	DLD (D290G +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1216690	NM_000108.5(DLD):c.875+124A>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192938	NM_000108.5(DLD):c.875+159C>A	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201185	NM_000108.5(DLD):c.875+226T>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241280	NM_000108.5(DLD):c.875+281T>C	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216217	NM_000108.5(DLD):c.876-253G>A	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196440	NM_000108.5(DLD):c.876-250T>C	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174171	NM_000108.5(DLD):c.876-174C>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217980	NM_000108.5(DLD):c.876-173G>A	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199428	NM_000108.5(DLD):c.876-54C>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 11971	NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	DLD (E375K +3 more)	Single nucleotide variant (missense variant)	DLD-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1300362	NM_000108.5(DLD):c.1129A>G (p.Met377Val)	DLD (M278V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388757	NM_000108.5(DLD):c.1182C>T (p.Tyr394=)	DLD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2504391	NM_000108.5(DLD):c.1193A>C (p.Glu398Ala)	DLD (E299A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509828	NM_000108.5(DLD):c.1236+7C>T	DLD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 137099	NM_000108.5(DLD):c.1236+13A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GBenign
Select item 1214949	NM_000108.5(DLD):c.1236+204A>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205566	NM_000108.5(DLD):c.1237-102C>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 203684	NM_000108.5(DLD):c.1291A>G (p.Thr431Ala)	DLD (T431A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137100	NM_000108.5(DLD):c.1351C>T (p.Leu451=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency +4 more	GBenign
Select item 1181957	NM_000108.5(DLD):c.1374+116A>G	DLD, LOC129999127	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211418	NM_000108.5(DLD):c.1375-232A>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 203685	NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)	DLD (G461E +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 391374	NM_000108.5(DLD):c.1395T>C (p.Asn465=)	DLD	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 137101	NM_000108.5(DLD):c.1422A>C (p.Gly474=)	DLD	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 724857	NM_000108.5(DLD):c.1452T>C (p.Cys484=)	DLD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1215141	NM_000108.5(DLD):c.1465-30G>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 203673	NM_000108.5(DLD):c.*18del	DLD	Deletion (3 prime UTR variant)	not specified	GBenign
Select item 137102	NM_000108.5(DLD):c.*18A>T	DLD	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +4 more	GBenign
Select item 1202667	NM_000108.5(DLD):c.*295del	DLD	Deletion (3 prime UTR variant)	not provided	GLikely benign

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