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	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
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 2902164	NM_001931.5(DLAT):c.9C>T (p.Arg3=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 841563	NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)	DLAT (N11T)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 137085	NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)	DLAT (A16T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1146551	NM_001931.5(DLAT):c.54C>A (p.Leu18=)	DLAT	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 137086	NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	DLAT (E19Q +1 more)	Single nucleotide variant (missense variant +2 more)	DLAT-related condition +3 more	GBenign
Select item 797085	NM_001931.5(DLAT):c.78G>A (p.Gln26=)	DLAT (G13R)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 1479836	NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)	DLAT (R33Q)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	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)	not provided +1 more	GBenign
Select item 2289838	NM_001931.5(DLAT):c.131G>T (p.Arg44Leu)	DLAT (R44L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 534586	NM_001931.5(DLAT):c.144G>A (p.Val48=)	DLAT (D35N)	Single nucleotide variant (synonymous variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2912903	NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)	DLAT (T49I)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1363724	NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)	DLAT (R40L +1 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 289331	NM_001931.5(DLAT):c.165C>G (p.Val55=)	DLAT (P42A)	Single nucleotide variant (synonymous variant +4 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 806735	NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)	DLAT (R56P)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2096432	NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)	DLAT (A57S +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 512662	NM_001931.5(DLAT):c.177C>T (p.Cys59=)	DLAT (R46W)	Single nucleotide variant (synonymous variant +4 more)	not provided +1 more	GLikely benign
Select item 2160379	NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)	DLAT (P63L)	Single nucleotide variant (missense variant +4 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1696210	NM_001931.5(DLAT):c.208C>T (p.Arg70Trp)	DLAT (A56V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1922976	NM_001931.5(DLAT):c.222G>A (p.Leu74=)	DLAT (A61T)	Single nucleotide variant (synonymous variant +4 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2642369	NM_001931.5(DLAT):c.231T>C (p.Leu77=)	DLAT (F64L)	Single nucleotide variant (synonymous variant +4 more)	not provided	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 1657611	NM_001931.5(DLAT):c.252C>T (p.Arg84=)	DLAT	Single nucleotide variant (synonymous variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 1977862	NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)	DLAT (Y85D +1 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1429354	NM_001931.5(DLAT):c.253T>C (p.Tyr85His)	DLAT (L71P +1 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2440797	NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)	DLAT (P89T +1 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1662662	NM_001931.5(DLAT):c.267C>A (p.Pro89=)	DLAT (P76T)	Single nucleotide variant (synonymous variant +4 more)	DLAT-related condition +1 more	GLikely benign
Select item 2606927	NM_001931.5(DLAT):c.268C>G (p.Pro90Ala)	DLAT (P76R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2713767	NM_001931.5(DLAT):c.270G>C (p.Pro90=)	DLAT (A77P)	Single nucleotide variant (synonymous variant +4 more)	Pyruvate dehydrogenase E2 deficiency	GBenign
Select item 2047177	NM_001931.5(DLAT):c.279+18dup	DLAT	Duplication (intron variant)	Pyruvate dehydrogenase E2 deficiency	GBenign
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 2763842	NM_001931.5(DLAT):c.279+18C>T	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	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 1610455	NM_001931.5(DLAT):c.280-15C>T	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2327344	NM_001931.5(DLAT):c.280G>C (p.Val94Leu)	DLAT (V38L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1610461	NM_001931.5(DLAT):c.306A>G (p.Thr102=)	DLAT	Single nucleotide variant (synonymous variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
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 1389037	NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)	DLAT (A109T +2 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1041771	NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)	DLAT (E59K +2 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 534585	NM_001931.5(DLAT):c.355A>G (p.Ile119Val)	DLAT (I119V +2 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
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 2109	NM_001931.5(DLAT):c.362_364del (p.Glu121del)	DLAT (E110del +2 more)	Deletion (inframe_deletion +3 more)	Pyruvate dehydrogenase E2 deficiency	GPathogenic
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 1106102	NM_001931.5(DLAT):c.372A>C (p.Leu124=)	DLAT	Single nucleotide variant (5 prime UTR variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2782037	NM_001931.5(DLAT):c.381+1G>T	DLAT	Single nucleotide variant (splice donor variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely pathogenic
Select item 1704920	NM_001931.5(DLAT):c.381+21_381+22dup	DLAT	Duplication (intron variant)	not provided	GLikely benign
Select item 1409396	NM_001931.5(DLAT):c.381+5_381+6insC	DLAT	Insertion (intron variant)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 559126	NM_001931.5(DLAT):c.381+22dup	DLAT	Duplication (intron variant)	not provided	GBenign
Select item 439603	NM_001931.5(DLAT):c.381+5G>T	DLAT	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1426241	NM_001931.5(DLAT):c.381+6T>G	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
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 1578113	NM_001931.5(DLAT):c.381+7T>A	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 1612036	NM_001931.5(DLAT):c.381+8T>G	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 1587894	NM_001931.5(DLAT):c.381+9T>G	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 1649444	NM_001931.5(DLAT):c.381+12_381+13insG	DLAT	Insertion (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely 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 2703744	NM_001931.5(DLAT):c.382-19C>G	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2072269	NM_001931.5(DLAT):c.382-16C>T	DLAT	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 596741	NM_001931.5(DLAT):c.382G>A (p.Val128Ile)	DLAT (V128I +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631650	NM_001931.5(DLAT):c.396dup (p.Ala133fs)	DLAT (A91fs +3 more)	Duplication (frameshift variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1982460	NM_001931.5(DLAT):c.402T>C (p.Thr134=)	DLAT	Single nucleotide variant (non-coding transcript variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
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 2324405	NM_001931.5(DLAT):c.412G>A (p.Glu138Lys)	DLAT (E127K +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2196317	NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)	DLAT (E138* +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GPathogenic
Select item 1654260	NM_001931.5(DLAT):c.417C>T (p.Ser139=)	DLAT	Single nucleotide variant (synonymous variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
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 1426443	NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)	DLAT (A104T +3 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	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 208790	NM_001931.5(DLAT):c.470T>G (p.Val157Gly)	DLAT (V157G +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2642370	NM_001931.5(DLAT):c.477C>T (p.Ile159=)	DLAT (S4L)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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	GUncertain significance
Select item 2548415	NM_001931.5(DLAT):c.481G>A (p.Ala161Thr)	DLAT (A119T +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1908347	NM_001931.5(DLAT):c.482C>T (p.Ala161Val)	DLAT (A119V +4 more)	Single nucleotide variant (nonsense +3 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2721239	NM_001931.5(DLAT):c.486C>G (p.Ile162Met)	DLAT (I120M +4 more)	Single nucleotide variant (missense variant +3 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
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 2074455	NM_001931.5(DLAT):c.489C>T (p.Ile163=)	DLAT (S8F)	Single nucleotide variant (synonymous variant +3 more)	DLAT-related condition +1 more	GLikely benign

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