C1839413[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333508	NM_000284.4(PDHA1):c.46del (p.Ser16fs)	PDHA1 (S16fs)	Deletion (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
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 1526055	NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn)	PDHA1 (K115N +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 1320219	NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	PDHA1 (R119W +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 214940	NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	PDHA1 (R127W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 560929	NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	PDHA1 (Y161C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1321261	NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)	PDHA1 (V167L +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 10872	NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	PDHA1 (S312fs +3 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1705701	NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)	PDHA1 (S339fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance