"Baylor Genetics"[submitter] AND "PDHB"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2677598	NM_000925.4(PDHB):c.716_717del (p.Val239fs)	PDHB (V221fs +1 more)	Microsatellite (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic/Likely pathogenic
Select item 3240066	NM_000925.4(PDHB):c.669dup (p.Pro224fs)	PDHB (P206fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2677601	NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)	PDHB (E185* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2677595	NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)	PDHB (Q139* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 978591	NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	PDHB (I142M +1 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2677597	NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)	PDHB (Q100* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 839569	NM_000925.4(PDHB):c.301A>G (p.Met101Val)	PDHB (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2732344	NM_000925.4(PDHB):c.238_239del (p.Lys80fs)	PDHB (K62fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic/Likely pathogenic
Select item 2677600	NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)	PDHB (R53* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic/Likely pathogenic
Select item 1984417	NM_000925.4(PDHB):c.122_123del (p.Gln41fs)	PDHB (Q23fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic/Likely pathogenic