C1864723[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - 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 206440	NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)	PNPO (E50K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 6524	NM_018129.4(PNPO):c.364-1G>A	PNPO	Single nucleotide variant (splice acceptor variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 6525	NM_018129.4(PNPO):c.784T>C (p.Ter262Gln)	PNPO	Single nucleotide variant (stop lost)	Pyridoxal phosphate-responsive seizures	GPathogenic

Format

Sort by

Choose Destination