"3billion"[submitter] AND "NCDN"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333436	NM_014284.3(NCDN):c.259C>A (p.Arg87Ser)	NCDN (R70S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 1320191	NM_014284.3(NCDN):c.990dup (p.Glu331fs)	NCDN (E314fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely pathogenic