"Illumina Laboratory Services, Illumina"[submitter] AND "PDHB"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Pyruvate dehydrogenase E1-beta deficiency	GBenign
Select item 346398	NM_000925.4(PDHB):c.*353T>C	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	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 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)	Pyruvate dehydrogenase E1-beta deficiency	GBenign
Select item 346403	NM_000925.4(PDHB):c.*92C>A	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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 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 214952	NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)	PDHB (P313A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346404	NM_000925.4(PDHB):c.793-19_793-14del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GConflicting classifications of pathogenicity
Select item 346405	NM_000925.4(PDHB):c.710T>A (p.Ile237Lys)	PDHB (I237K +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346406	NM_000925.4(PDHB):c.701-3C>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GConflicting classifications of pathogenicity
Select item 346407	NM_000925.4(PDHB):c.641C>T (p.Pro214Leu)	PDHB (P214L +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346408	NM_000925.4(PDHB):c.640C>T (p.Pro214Ser)	PDHB (P214S +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346409	NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)	PDHB (A150S +1 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	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 138650	NM_000925.4(PDHB):c.288T>C (p.Ala96=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 346410	NM_000925.4(PDHB):c.249T>C (p.Ile83=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 901692	NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)	PDHB (R53Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 138649	NM_000925.4(PDHB):c.198A>G (p.Ala66=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 138648	NM_000925.4(PDHB):c.132T>C (p.Asp44=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 901693	NM_000925.4(PDHB):c.96+12G>A	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 346411	NM_000925.4(PDHB):c.93G>T (p.Leu31=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 901694	NM_000925.4(PDHB):c.45C>G (p.Val15=)	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 346412	NM_000925.4(PDHB):c.11T>C (p.Val4Ala)	LOC129936949, PDHB (V4A)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 903643	NM_000925.4(PDHB):c.-12G>A	PDHB	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 138653	NM_000925.3(PDHB):c.-26G>A	PDHB	Single nucleotide variant (genic upstream transcript variant)	not specified +1 more	GBenign
Select item 668481	NM_000925.3(PDHB):c.-49T>C	PDHB	Single nucleotide variant (genic upstream transcript variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GConflicting classifications of pathogenicity

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Items: 37