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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237367	NM_001776.6(ENTPD1):c.1174C>T (p.Gln392Ter)	ENTPD1, ENTPD1-AS1 (Q254* +5 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 64	GPathogenic
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

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