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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1221657	NC_000011.10:g.112024469G>T	DLAT, LOC130006760	Single nucleotide variant	not provided	GBenign
Select item 1202884	NC_000011.10:g.112024510del	DLAT, LOC130006760	Deletion	not provided	GLikely benign
Select item 669707	NM_001931.4(DLAT):c.-944A>T	DLAT, LOC130006760	Single nucleotide variant	not provided	GBenign
Select item 669710	NM_001931.4(DLAT):c.-943G>T	DLAT, LOC130006760	Single nucleotide variant	not provided	GBenign
Select item 302435	NM_001931.4(DLAT):c.-637G>A	DLAT	Single nucleotide variant	not provided	GLikely benign
Select item 1221770	NM_001931.4(DLAT):c.-598C>T	DLAT	Single nucleotide variant	not provided	GBenign
Select item 1210737	NM_001931.4(DLAT):c.-157G>A	DLAT, LOC130006761	Single nucleotide variant	not provided	GLikely benign
Select item 302447	NM_001931.4(DLAT):c.-156C>G	DLAT, LOC130006761	Single nucleotide variant	not provided	GLikely benign
Select item 377770	NM_001931.5(DLAT):c.-15G>A	DLAT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 137085	NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)	DLAT (A16T +1 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GBenign
Select item 137086	NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	DLAT (E19Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 3377874	NM_001931.5(DLAT):c.79G>A (p.Glu27Lys)	DLAT (E27K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1315151	NM_001931.5(DLAT):c.83T>C (p.Val28Ala)	DLAT (V28A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1454240	NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)	DLAT (R37G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 128897	NM_001931.5(DLAT):c.128C>T (p.Ala43Val)	DLAT (A43V)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GBenign
Select item 289331	NM_001931.5(DLAT):c.165C>G (p.Val55=)	DLAT (P42A)	Single nucleotide variant (synonymous variant +4 more)	Pyruvate dehydrogenase E2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 512662	NM_001931.5(DLAT):c.177C>T (p.Cys59=)	DLAT (R46W)	Single nucleotide variant (synonymous variant +4 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 507544	NM_001931.5(DLAT):c.240G>A (p.Ser80=)	DLAT (A67T)	Single nucleotide variant (synonymous variant +4 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 383028	NM_001931.5(DLAT):c.279+13C>A	DLAT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1190563	NM_001931.5(DLAT):c.279+39T>C	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223161	NM_001931.5(DLAT):c.279+49A>G	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215272	NM_001931.5(DLAT):c.279+56G>A	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292219	NM_001931.5(DLAT):c.280-121T>C	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 302451	NM_001931.5(DLAT):c.318C>A (p.Gly106=)	DLAT	Single nucleotide variant (synonymous variant +3 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 214290	NM_001931.5(DLAT):c.359A>G (p.Asn120Ser)	DLAT (N120S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 452714	NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)	DLAT (D123Y +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1704920	NM_001931.5(DLAT):c.381+21_381+22dup	DLAT	Duplication (intron variant)	not provided	GLikely benign
Select item 559126	NM_001931.5(DLAT):c.381+22dup	DLAT	Duplication (intron variant)	not provided	GBenign
Select item 1213482	NM_001931.5(DLAT):c.381+21_381+22del	DLAT	Deletion (intron variant)	not provided	GLikely benign
Select item 522242	NM_001931.4(DLAT):c.381+22delT	DLAT	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1237350	NM_001931.5(DLAT):c.381+22T>A	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251789	NM_001931.5(DLAT):c.381+27A>T	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292545	NM_001931.5(DLAT):c.382-72_382-70del	DLAT	Deletion (intron variant)	not provided	GBenign
Select item 1289962	NM_001931.5(DLAT):c.382-71_382-70del	DLAT	Deletion (intron variant)	not provided	GBenign
Select item 1263990	NM_001931.5(DLAT):c.382-73_382-70del	DLAT	Deletion (intron variant)	not provided	GBenign
Select item 1262163	NM_001931.5(DLAT):c.382-70del	DLAT	Deletion (intron variant)	not provided	GBenign
Select item 1193976	NM_001931.5(DLAT):c.382-74_382-70del	DLAT	Deletion (intron variant)	not provided	GLikely benign
Select item 1296471	NM_001931.5(DLAT):c.382-71_382-69del	DLAT	Deletion (intron variant)	not provided	GBenign
Select item 418162	NM_001931.5(DLAT):c.410T>G (p.Phe137Cys)	DLAT (F137C +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 284159	NM_001931.5(DLAT):c.423G>A (p.Glu141=)	DLAT	Single nucleotide variant (synonymous variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 2446262	NM_001931.5(DLAT):c.428G>T (p.Cys143Phe)	DLAT (C101F +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1311520	NM_001931.5(DLAT):c.458G>A (p.Gly153Asp)	DLAT (G111D +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2151252	NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)	DLAT (G118R +3 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GUncertain significance
Select item 214291	NM_001931.5(DLAT):c.487A>G (p.Ile163Val)	DLAT (I163V +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 137088	NM_001931.5(DLAT):c.506+11C>T	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency +2 more	GBenign
Select item 302453	NM_001931.5(DLAT):c.506+12G>A	DLAT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2443631	NM_001931.5(DLAT):c.524C>G (p.Ala175Gly)	DLAT (A119G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 137089	NM_001931.5(DLAT):c.570A>G (p.Gln190=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency +2 more	GBenign/Likely benign
Select item 214292	NM_001931.5(DLAT):c.572C>T (p.Ala191Val)	DLAT (A191V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 214293	NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)	DLAT (P195S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1254378	NM_001931.5(DLAT):c.606G>A (p.Ser202=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 137090	NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)	DLAT (Q209R +4 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency +2 more	GBenign
Select item 214294	NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)	DLAT (A210T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1201601	NM_001931.5(DLAT):c.660+83A>C	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288605	NM_001931.5(DLAT):c.661-285G>A	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264468	NM_001931.5(DLAT):c.661-133T>C	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291009	NM_001931.5(DLAT):c.661-56T>C	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386351	NM_001931.5(DLAT):c.675C>T (p.Ala225=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 517998	NM_001931.5(DLAT):c.687C>T (p.Thr229=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 137091	NM_001931.5(DLAT):c.693C>T (p.Thr231=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency +2 more	GBenign
Select item 385585	NM_001931.5(DLAT):c.754C>T (p.Leu252=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 2663016	NM_001931.5(DLAT):c.757G>T (p.Ala253Ser)	DLAT (A126S +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1204205	NM_001931.5(DLAT):c.787+259C>T	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669860	NM_001931.5(DLAT):c.787+272T>C	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207189	NM_001931.5(DLAT):c.788-195A>G	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 302455	NM_001931.5(DLAT):c.828G>T (p.Leu276=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 392107	NM_001931.5(DLAT):c.870C>T (p.Leu290=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 137087	NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)	DLAT (E310K +6 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency +2 more	GBenign
Select item 302456	NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)	DLAT (P316S +6 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 128899	NM_001931.5(DLAT):c.953T>C (p.Val318Ala)	DLAT (V318A +6 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GBenign
Select item 746386	NM_001931.5(DLAT):c.969A>C (p.Pro323=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 1168457	NM_001931.5(DLAT):c.975+16G>T	DLAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674118	NM_001931.5(DLAT):c.976-323A>G	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194815	NM_001931.5(DLAT):c.976-268_976-265del	DLAT	Deletion (intron variant)	not provided	GLikely benign
Select item 1294363	NM_001931.5(DLAT):c.976-149C>A	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219882	NM_001931.5(DLAT):c.976-115G>A	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190114	NM_001931.5(DLAT):c.976-58C>T	DLAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 518189	NM_001931.5(DLAT):c.976-15A>T	DLAT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 432212	NM_001931.5(DLAT):c.976-1G>A	DLAT	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1712593	NM_001931.5(DLAT):c.977T>C (p.Val326Ala)	DLAT (V172A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 513730	NM_001931.5(DLAT):c.981C>T (p.Ala327=)	DLAT	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 1695817	NM_001931.5(DLAT):c.998C>G (p.Pro333Arg)	DLAT (P179R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 432159	NM_001931.5(DLAT):c.1129+2T>C	DLAT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2120184	NM_001931.5(DLAT):c.1130-6T>G	DLAT	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 302459	NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)	DLAT (D381G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1313933	NM_001931.5(DLAT):c.1144G>A (p.Gly382Ser)	DLAT (G228S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214295	NM_001931.5(DLAT):c.1152C>G (p.Ile384Met)	DLAT (I384M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 683732	NM_001931.5(DLAT):c.1197+192G>A	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178223	NM_001931.5(DLAT):c.1198-266G>A	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267919	NM_001931.5(DLAT):c.1198-86_1198-85dup	DLAT	Duplication (intron variant)	not provided	GBenign
Select item 1259764	NM_001931.5(DLAT):c.1198-85dup	DLAT	Duplication (intron variant)	not provided	GBenign
Select item 507547	NM_001931.5(DLAT):c.1290+13C>T	DLAT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1231529	NM_001931.5(DLAT):c.1290+49del	DLAT	Deletion (intron variant)	not provided	GBenign
Select item 1286083	NM_001931.5(DLAT):c.1290+170T>G	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296579	NM_001931.5(DLAT):c.1290+315G>A	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669711	NM_001931.5(DLAT):c.1291-245A>G	DLAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128898	NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)	DLAT (D451N +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 668340	NM_001931.5(DLAT):c.1374G>A (p.Leu458=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1312384	NM_001931.5(DLAT):c.1382G>A (p.Arg461Gln)	DLAT (R307Q +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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