ClinVar (all) for Orgtrack (Select 507416) - ClinVar

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

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872930	NM_152743.4(BRAT1):c.1499-1G>T	BRAT1	Single nucleotide variant (splice acceptor variant)	Neonatal-onset encephalopathy with rigidity and seizures	GLikely pathogenic
Select item 812704	NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly)	TALDO1 (R239G)	Single nucleotide variant (missense variant)	Deficiency of transaldolase	GPathogenic