C4693663[trait identifier] AND "Laboratory of Inherited Metabolic Dise - 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 870183	NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln)	CNPY3-GNMT, CNPY3 (R154Q +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 870182	NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter)	CNPY3, CNPY3-GNMT (Q210* +2 more)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy, 60	GLikely pathogenic