"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PDHX"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30752	NM_003477.3(PDHX):c.44G>A (p.Arg15His)	LOC130005549, PDHX (R15H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 424121	NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)	LOC130005549, PDHX (W45*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 138655	NM_003477.3(PDHX):c.160+15C>G	LOC130005549, PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign/Likely benign
Select item 1609107	NM_003477.3(PDHX):c.242-17C>T	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 214960	NM_003477.3(PDHX):c.589C>A (p.Leu197Met)	PDHX (L197M +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 852646	NM_003477.3(PDHX):c.1034A>T (p.Asp345Val)	PDHX (D345V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar