C1855553[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582466	NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)	LOC130005549, PDHX (L13P)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 214960	NM_003477.3(PDHX):c.589C>A (p.Leu197Met)	PDHX (L197M +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 638884	NM_003477.3(PDHX):c.622C>T (p.Arg208Trp)	PDHX (R208W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 951032	NM_003477.3(PDHX):c.970A>G (p.Ile324Val)	PDHX (I324V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2441847	NM_003477.3(PDHX):c.1012dup (p.Val338fs)	PDHX (V278fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 214958	NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)	PDHX (I377V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar