PDHB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 369422	NM_000925.3(PDHB):c.407_408delAA	PDHB	Deletion	Pyruvate dehydrogenase complex deficiency	GLikely benign
Select item 346395	NM_000925.4(PDHB):c.366_367insAA	PDHB	Insertion (3 prime UTR variant +1 more)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 902608	NM_000925.4(PDHB):c.*365T>A	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346396	NM_000925.4(PDHB):c.*360A>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346397	NM_000925.4(PDHB):c.*356A>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 346398	NM_000925.4(PDHB):c.*353T>C	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 903458	NM_000925.4(PDHB):c.*328A>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346399	NM_000925.4(PDHB):c.*296C>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 346400	NM_000925.4(PDHB):c.*243A>C	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1208382	NM_000925.4(PDHB):c.*204C>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 903459	NM_000925.4(PDHB):c.*201T>C	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 346401	NM_000925.4(PDHB):c.*199T>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 899975	NM_000925.4(PDHB):c.*173C>T	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 899976	NM_000925.4(PDHB):c.*160A>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346402	NM_000925.4(PDHB):c.*99C>T	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 346403	NM_000925.4(PDHB):c.*92C>A	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GBenign
Select item 899977	NM_000925.4(PDHB):c.*77C>T	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 653525	NC_000003.12:g.(?_58428014)_(58431813_?)del	LOC129936948, PDHB	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 991895	NM_000925.4(PDHB):c.*7C>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 1610272	NM_000925.4(PDHB):c.1080G>A (p.Ter360=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2961732	NM_000925.4(PDHB):c.1074T>C (p.Asn358=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 899978	NM_000925.4(PDHB):c.1069T>C (p.Leu357=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 2030328	NM_000925.4(PDHB):c.1068A>T (p.Thr356=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2735282	NM_000925.4(PDHB):c.1065A>G (p.Lys355=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1038845	NM_000925.4(PDHB):c.1057A>G (p.Ile353Val)	PDHB (I335V +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2857288	NM_000925.4(PDHB):c.1053T>C (p.Phe351=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2184557	NM_000925.4(PDHB):c.1050A>G (p.Ile350Met)	PDHB (I332M +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 1591756	NM_000925.4(PDHB):c.1047C>A (p.Ile349=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2043790	NM_000925.4(PDHB):c.1035G>C (p.Gln345His)	PDHB (Q327H +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 1592106	NM_000925.4(PDHB):c.1035G>A (p.Gln345=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 13189	NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser)	PDHB (P344S +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 970499	NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)	PDHB (I343M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1107596	NM_000925.4(PDHB):c.1014A>G (p.Leu338=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1129312	NM_000925.4(PDHB):c.1008G>A (p.Lys336=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2093575	NM_000925.4(PDHB):c.1006A>G (p.Lys336Glu)	PDHB (K318E +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 1647894	NM_000925.4(PDHB):c.1005A>G (p.Ala335=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 991896	NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 75194	NM_000925.4(PDHB):c.990C>T (p.Val330=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2838126	NM_000925.4(PDHB):c.984T>C (p.Ala328=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2174829	NM_000925.4(PDHB):c.975C>T (p.Val325=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 638449	NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)	PDHB (P321L +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 978590	NM_000925.4(PDHB):c.956A>T (p.Asp319Val)	PDHB (D319V +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 1147440	NM_000925.4(PDHB):c.954G>T (p.Leu318=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 792562	NM_000925.4(PDHB):c.954G>C (p.Leu318=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2703955	NM_000925.4(PDHB):c.952C>T (p.Leu318=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2715790	NM_000925.4(PDHB):c.951C>T (p.Phe317=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1588184	NM_000925.4(PDHB):c.942G>A (p.Ala314=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2537843	NM_000925.4(PDHB):c.941C>T (p.Ala314Val)	PDHB (A296V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 799072	NM_000925.4(PDHB):c.939T>C (p.Pro313=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 214952	NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)	PDHB (P313A +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2114385	NM_000925.4(PDHB):c.935-4C>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign
Select item 1160679	NM_000925.4(PDHB):c.935-5C>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1129882	NM_000925.4(PDHB):c.935-5C>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1129245	NM_000925.4(PDHB):c.935-5C>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2875705	NM_000925.4(PDHB):c.935-14CTTC[3]	PDHB	Microsatellite (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1124066	NM_000925.4(PDHB):c.935-7C>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 798447	NM_000925.4(PDHB):c.935-9T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1232032	NM_000925.4(PDHB):c.935-12T>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign
Select item 2882817	NM_000925.4(PDHB):c.935-17del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2798851	NM_000925.4(PDHB):c.935-17A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 676167	NM_000925.4(PDHB):c.935-146G>C	PDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2895442	NM_000925.4(PDHB):c.934+11G>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2677599	NM_000925.4(PDHB):c.934+1G>A	PDHB	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2955945	NM_000925.4(PDHB):c.927C>T (p.Ile309=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2549722	NM_000925.4(PDHB):c.924G>T (p.Arg308Ser)	PDHB (R290S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1476432	NM_000925.4(PDHB):c.922A>G (p.Arg308Gly)	PDHB (R290G +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 978589	NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)	PDHB (C306R +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 1634281	NM_000925.4(PDHB):c.915C>A (p.Ile305=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2837648	NM_000925.4(PDHB):c.906A>G (p.Gly302=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1114834	NM_000925.4(PDHB):c.897T>C (p.Phe299=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 3240067	NM_000925.4(PDHB):c.892_893del (p.Gln298fs)	PDHB (Q280fs +1 more)	Microsatellite (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 1589929	NM_000925.4(PDHB):c.885C>G (p.Gly295=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1675926	NM_000925.4(PDHB):c.866T>C (p.Leu289Pro)	PDHB (L271P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1549936	NM_000925.4(PDHB):c.861T>C (p.Asn287=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 3210864	NM_000925.4(PDHB):c.852G>T (p.Met284Ile)	PDHB (M284I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 991897	NM_000925.4(PDHB):c.847G>A (p.Val283Ile)	PDHB (V265I +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 991898	NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)	PDHB (A263S +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2112110	NM_000925.4(PDHB):c.840A>G (p.Glu280=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 991899	NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)	PDHB (I261T +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 991900	NM_000925.4(PDHB):c.826A>T (p.Met276Leu)	PDHB (M258L +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2860664	NM_000925.4(PDHB):c.825C>T (p.Asp275=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2445695	NM_000925.4(PDHB):c.818del (p.Pro273fs)	PDHB (P255fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 1532099	NM_000925.4(PDHB):c.810C>T (p.Thr270=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2169621	NM_000925.4(PDHB):c.806G>A (p.Arg269His)	PDHB (R251H +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2834403	NM_000925.4(PDHB):c.803del (p.Met268fs)	PDHB (M250fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 1534505	NM_000925.4(PDHB):c.793-10_793-7dup	PDHB	Duplication (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2178543	NM_000925.4(PDHB):c.793-13A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 346404	NM_000925.4(PDHB):c.793-19_793-14del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase complex deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2160005	NM_000925.4(PDHB):c.793-15A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 3016001	NM_000925.4(PDHB):c.793-19_793-16del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2883705	NM_000925.4(PDHB):c.793-16T>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2878087	NM_000925.4(PDHB):c.793-16T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1174061	NM_000925.4(PDHB):c.793-41G>A	PDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 676166	NM_000925.4(PDHB):c.793-76_793-75del	PDHB	Deletion (intron variant)	not provided	GBenign
Select item 669536	NM_000925.4(PDHB):c.792+172A>T	LOC129936948, PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2865848	NM_000925.4(PDHB):c.792+19_792+24del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2909971	NM_000925.4(PDHB):c.792+18T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign

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