PDHX[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304451	NM_003477.2(PDHX):c.-272G>A	PDHX	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 304452	NM_003477.2(PDHX):c.-271G>T	PDHX	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 304454	NM_003477.2(PDHX):c.-202A>G	PDHX	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 3338992	NM_003477.3(PDHX):c.-195_-180dup16	PDHX	Duplication (genic upstream transcript variant +1 more)	not specified	GUncertain significance
Select item 590822	NM_001135024.2(PDHX):c.-48del	PDHX	Deletion (5 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 1301651	NM_003477.2(PDHX):c.-178T>C	PDHX	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 878391	NM_003477.2(PDHX):c.-162C>A	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304455	NM_003477.2(PDHX):c.-155G>A	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304456	NM_003477.2(PDHX):c.-129_-127delCGG	PDHX	Deletion (intron variant)	not provided +1 more	GBenign
Select item 304457	NM_003477.2(PDHX):c.-129C>T	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 304458	NM_003477.2(PDHX):c.-124G>C	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304459	NM_003477.2(PDHX):c.-88C>A	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 683423	NM_003477.3(PDHX):c.160+189A>G	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215348	NM_003477.3(PDHX):c.161-280dup	PDHX	Duplication (intron variant)	not provided	GLikely benign
Select item 422502	NM_003477.3(PDHX):c.161-10dup	PDHX	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1641430	NM_003477.3(PDHX):c.161-10del	PDHX	Deletion (intron variant)	not provided	GBenign
Select item 1975454	NM_003477.3(PDHX):c.161-15T>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 304462	NM_003477.3(PDHX):c.161-6T>C	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2175248	NM_003477.3(PDHX):c.161-2A>G	PDHX	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1921739	NM_003477.3(PDHX):c.166C>G (p.Pro56Ala)	PDHX (P56A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1986900	NM_003477.3(PDHX):c.173A>C (p.Lys58Thr)	PDHX (K58T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1924746	NM_003477.3(PDHX):c.191T>G (p.Leu64Arg)	PDHX (L4R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683144	NM_003477.3(PDHX):c.199A>G (p.Thr67Ala)	PDHX (T67A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228863	NM_003477.3(PDHX):c.202A>G (p.Met68Val)	PDHX (M68V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 660921	NM_003477.3(PDHX):c.211G>T (p.Gly71Ter)	PDHX (G71* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1553401	NM_003477.3(PDHX):c.225A>G (p.Lys75=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138656	NM_003477.3(PDHX):c.241+3G>A	PDHX	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1117044	NM_003477.3(PDHX):c.241+8G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513175	NM_003477.3(PDHX):c.241+15T>A	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 671564	NM_003477.3(PDHX):c.241+24C>A	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294262	NM_003477.3(PDHX):c.241+56dup	PDHX	Duplication (intron variant)	not provided	GBenign
Select item 1196377	NM_003477.3(PDHX):c.241+55_241+56dup	PDHX	Duplication (intron variant)	not provided	GLikely benign
Select item 1232631	NM_003477.3(PDHX):c.241+57G>T	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224755	NM_003477.3(PDHX):c.241+68dup	PDHX	Duplication (intron variant)	not provided	GBenign
Select item 1215154	NM_003477.3(PDHX):c.241+59_241+60insG	PDHX	Insertion (intron variant)	not provided	GLikely benign
Select item 673749	NM_003477.3(PDHX):c.241+173G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609107	NM_003477.3(PDHX):c.242-17C>T	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 737899	NM_003477.3(PDHX):c.242-4G>A	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2415797	NM_003477.3(PDHX):c.242G>A (p.Gly81Asp)	PDHX (G21D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3305505	NM_003477.3(PDHX):c.245A>T (p.Glu82Val)	PDHX (E82V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331339	NM_003477.3(PDHX):c.248C>T (p.Ala83Val)	PDHX (A23V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2732571	NM_003477.3(PDHX):c.249G>A (p.Ala83=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2360656	NM_003477.3(PDHX):c.250G>A (p.Val84Met)	PDHX (V24M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1614946	NM_003477.3(PDHX):c.285T>C (p.Thr95=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434637	NM_003477.3(PDHX):c.293C>T (p.Ala98Val)	PDHX (A38V +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2159576	NM_003477.3(PDHX):c.295G>C (p.Val99Leu)	PDHX (V99L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174618	NM_003477.3(PDHX):c.299_301dup (p.Val100_Thr101insIle)	PDHX	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 304463	NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)	PDHX (T101A +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 2264733	NM_003477.3(PDHX):c.310G>A (p.Ala104Thr)	PDHX (A44T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 282337	NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)	PDHX (D106G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 559124	NM_003477.3(PDHX):c.319G>A (p.Asp107Asn)	PDHX (D107N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159190	NM_003477.3(PDHX):c.320A>T (p.Asp107Val)	PDHX (D107V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121535	NM_003477.3(PDHX):c.323G>A (p.Gly108Glu)	PDHX (G108E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138657	NM_003477.3(PDHX):c.339C>T (p.Ile113=)	PDHX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1268934	NM_003477.3(PDHX):c.342+119dup	PDHX	Duplication (intron variant)	not provided	GBenign
Select item 1205611	NM_003477.3(PDHX):c.343-49G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182309	NM_003477.3(PDHX):c.343-39G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259969	NM_003477.3(PDHX):c.343-15_343-13del	PDHX	Microsatellite (intron variant)	not provided	GBenign
Select item 2744640	NM_003477.3(PDHX):c.343-11T>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1103998	NM_003477.3(PDHX):c.343-7A>C	PDHX	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2126127	NM_003477.3(PDHX):c.359A>G (p.Lys120Arg)	PDHX (K120R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982172	NM_003477.3(PDHX):c.366A>G (p.Ile122Met)	PDHX (I62M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979050	NM_003477.3(PDHX):c.367C>T (p.Arg123Trp)	PDHX (R123W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511402	NM_003477.3(PDHX):c.368G>A (p.Arg123Gln)	PDHX (R63Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483058	NM_003477.3(PDHX):c.374G>T (p.Gly125Val)	PDHX (G65V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 999080	NM_003477.3(PDHX):c.389T>G (p.Leu130Trp)	PDHX (L130W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 877419	NM_003477.3(PDHX):c.402A>G (p.Glu134=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 632159	NM_003477.3(PDHX):c.403G>T (p.Gly135Ter)	PDHX (G135* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 681462	NM_003477.3(PDHX):c.411T>C (p.Asp137=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782785	NM_003477.3(PDHX):c.419_420del (p.His140fs)	PDHX (H80fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2166333	NM_003477.3(PDHX):c.434A>G (p.Lys145Arg)	PDHX (K85R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1346604	NM_003477.3(PDHX):c.434A>C (p.Lys145Thr)	PDHX (K85T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138658	NM_003477.3(PDHX):c.438C>T (p.Asp146=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 3341997	NM_003477.3(PDHX):c.443del (p.Gly148fs)	PDHX (G148fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 514073	NM_003477.3(PDHX):c.462A>G (p.Ser154=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1698647	NM_003477.3(PDHX):c.474G>T (p.Glu158Asp)	PDHX (E158D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 304464	NM_003477.3(PDHX):c.474G>A (p.Glu158=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 489392	NM_003477.3(PDHX):c.479G>A (p.Arg160His)	PDHX (R160H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2035062	NM_003477.3(PDHX):c.480C>T (p.Arg160=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2218738	NM_003477.3(PDHX):c.498G>T (p.Gln166His)	PDHX (Q106H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2151266	NM_003477.3(PDHX):c.501T>A (p.Ile167=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2507160	NM_003477.3(PDHX):c.507C>G (p.Ile169Met)	PDHX (I109M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138659	NM_003477.3(PDHX):c.507C>T (p.Ile169=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 304465	NM_003477.3(PDHX):c.511G>A (p.Val171Ile)	PDHX (V171I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2076472	NM_003477.3(PDHX):c.518A>G (p.Lys173Arg)	PDHX (K173R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2248247	NM_003477.3(PDHX):c.520G>A (p.Glu174Lys)	PDHX (E174K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 378346	NM_003477.3(PDHX):c.526A>G (p.Ile176Val)	PDHX (I176V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 138660	NM_003477.3(PDHX):c.531C>T (p.Pro177=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign
Select item 304466	NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)	PDHX (G178R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2174076	NM_003477.3(PDHX):c.535A>G (p.Thr179Ala)	PDHX (T179A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1479277	NM_003477.3(PDHX):c.542G>A (p.Arg181Gln)	PDHX (R181Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GUncertain significance
Select item 2757267	NM_003477.3(PDHX):c.542+1G>C	PDHX	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 304467	NM_003477.3(PDHX):c.542+10T>C	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1210633	NM_003477.3(PDHX):c.542+97A>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287847	NM_003477.3(PDHX):c.542+157del	PDHX	Deletion (intron variant)	not provided	GBenign
Select item 683427	NM_003477.3(PDHX):c.542+192C>T	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2043494	NM_003477.3(PDHX):c.543-19C>T	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128654	NM_003477.3(PDHX):c.543-6T>C	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1383740	NM_003477.3(PDHX):c.548G>A (p.Arg183His)	PDHX (R123H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2412719	NM_003477.3(PDHX):c.557del (p.Pro186fs)	PDHX (P126fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic/Likely pathogenic

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