"GeneDx"[submitter] AND "PDHB"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 676167	NM_000925.4(PDHB):c.935-146G>C	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 346406	NM_000925.4(PDHB):c.701-3C>T	PDHB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1174062	NM_000925.4(PDHB):c.701-41G>A	PDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174063	NM_000925.4(PDHB):c.701-64G>T	PDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213674	NM_000925.4(PDHB):c.590-71T>C	PDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513596	NM_000925.4(PDHB):c.564A>G (p.Lys188=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 346409	NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)	PDHB (A150S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 129880	NM_000925.4(PDHB):c.438G>A (p.Gly146=)	PDHB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 138652	NM_000925.4(PDHB):c.435= (p.Arg145=)	PDHB	Single nucleotide variant (no sequence alteration +2 more)	not specified +1 more	GBenign
Select item 214951	NM_000925.4(PDHB):c.419T>A (p.Val140Glu)	PDHB (V140E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1294416	NM_000925.4(PDHB):c.304-102_304-101insAAT	PDHB	Insertion (intron variant)	not provided	GBenign
Select item 1193346	NM_000925.4(PDHB):c.304-233C>T	PDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673798	NM_000925.4(PDHB):c.304-237A>C	PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672638	NM_000925.4(PDHB):c.304-237A>G	PDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669535	NM_000925.4(PDHB):c.303+306C>T	PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271749	NM_000925.4(PDHB):c.303+130C>G	PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196469	NM_000925.4(PDHB):c.303+94G>A	PDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138651	NM_000925.4(PDHB):c.303+16T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +2 more	GBenign/Likely benign
Select item 217513	NM_000925.4(PDHB):c.300_303+7del	PDHB	Deletion (splice donor variant)	not provided	GPathogenic
Select item 138650	NM_000925.4(PDHB):c.288T>C (p.Ala96=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GBenign/Likely benign
Select item 1174026	NM_000925.4(PDHB):c.267+42G>A	PDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 517849	NM_000925.4(PDHB):c.205-17T>C	PDHB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 378345	NM_000925.4(PDHB):c.204+9A>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GBenign/Likely benign
Select item 138649	NM_000925.4(PDHB):c.198A>G (p.Ala66=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GBenign/Likely benign
Select item 138648	NM_000925.4(PDHB):c.132T>C (p.Asp44=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +2 more	GBenign/Likely benign
Select item 669530	NM_000925.4(PDHB):c.97-216T>G	PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683408	NM_000925.4(PDHB):c.97-218A>G	PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391086	NM_000925.4(PDHB):c.96+14G>C	LOC129936949, PDHB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 507949	NM_000925.4(PDHB):c.96+12G>C	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign
Select item 382646	NM_000925.4(PDHB):c.87T>A (p.Ala29=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 378344	NM_000925.4(PDHB):c.42+16C>T	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign
Select item 1036385	NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)	LOC129936949, PDHB (R13Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2185612	NM_000925.4(PDHB):c.13T>C (p.Ser5Pro)	LOC129936949, PDHB (S5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 214950	NM_000925.4(PDHB):c.8C>T (p.Ala3Val)	LOC129936949, PDHB (A3V)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign
Select item 382607	NM_000925.4(PDHB):c.-5C>G	PDHB	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 138653	NM_000925.3(PDHB):c.-26G>A	PDHB	Single nucleotide variant (genic upstream transcript variant)	Pyruvate dehydrogenase E1-beta deficiency +2 more	GBenign
Select item 668481	NM_000925.3(PDHB):c.-49T>C	PDHB	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1260797	NC_000003.12:g.58433965G>A	LOC129936950, PDHB	Single nucleotide variant	not provided	GBenign
Select item 1232162	NC_000003.12:g.58434039G>C	LOC129936950, PDHB	Single nucleotide variant	not provided	GBenign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
Select item 3362007	NM_000925.4(PDHB):c.478C>G (p.Gln160Glu)	PDHB (Q142E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 50