"Ambry Genetics"[submitter] AND "LOC130005549"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2477707	NM_003477.3(PDHX):c.19C>G (p.Leu7Val)	LOC130005549, PDHX (L7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1368844	NM_003477.3(PDHX):c.22G>T (p.Gly8Cys)	LOC130005549, PDHX (G8C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2616749	NM_003477.3(PDHX):c.116G>C (p.Arg39Pro)	LOC130005549, PDHX (R39P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305507	NM_003477.3(PDHX):c.118G>A (p.Gly40Arg)	LOC130005549, PDHX (G40R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315559	NM_003477.3(PDHX):c.155T>G (p.Leu52Arg)	LOC130005549, PDHX (L52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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