C1864723[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595589	NM_018129.4(PNPO):c.422G>A (p.Arg141His)	PNPO (R141H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 575834	NM_018129.4(PNPO):c.759C>G (p.Asp253Glu)	PNPO (D253E)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance