C0034345[trait identifier] AND "ClinGen Mitochondrial Disease Nuclear - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214938	NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	PDHA1 (R72C +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GLikely pathogenic FDA Recognized database
Select item 214941	NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	PDHA1 (A169V +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GPathogenic FDA Recognized database
Select item 92772	NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase complex deficiency	GBenign FDA Recognized database
Select item 655703	NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)	PDHA1 (I249S +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GUncertain significance FDA Recognized database
Select item 10885	NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	PDHA1 (M282L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GBenign FDA Recognized database
Select item 214935	NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)	PDHA1 (R304* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase complex deficiency	GPathogenic FDA Recognized database
Select item 378343	NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	PDHA1 (E333D +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GBenign FDA Recognized database
Select item 214936	NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	PDHA1 (R378C +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GPathogenic FDA Recognized database
Select item 10880	NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	PDHA1 (W390fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase complex deficiency	GPathogenic FDA Recognized database