Related gene-specific medical variations for Gene (Select 23154) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363194	NM_014284.3(NCDN):c.1598C>T (p.Pro533Leu)	NCDN (P516L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely pathogenic
Select item 3068248	NM_014284.3(NCDN):c.1384C>T (p.Arg462Trp)	NCDN (R445W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 3067994	NM_014284.3(NCDN):c.1171T>C (p.Phe391Leu)	NCDN (F374L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 2689542	NM_014284.3(NCDN):c.1268G>A (p.Arg423His)	NCDN (R406H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 2434074	NM_014284.3(NCDN):c.1482C>G (p.Phe494Leu)	NCDN (F477L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 2434073	NM_014284.3(NCDN):c.127C>T (p.Leu43Phe)	NCDN (L26F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance

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