ClinVar for MedGen (Select 1781627) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3583660	NM_014284.3(NCDN):c.859C>T (p.Arg287Cys)	NCDN (R270C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 3370494	NM_014284.3(NCDN):c.217C>T (p.Arg73Trp)	NCDN (R56W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms +1 more	GUncertain significance
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 +1 more	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
Select item 2434072	NM_014284.3(NCDN):c.490G>A (p.Gly164Ser)	NCDN (G147S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2248408	NM_014284.3(NCDN):c.565G>A (p.Gly189Ser)	NCDN (G172S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1805253	NM_014284.3(NCDN):c.646C>T (p.Pro216Ser)	NCDN (P199S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely benign
Select item 1684580	NM_014284.3(NCDN):c.216dup (p.Arg73fs)	NCDN (R56fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely pathogenic
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
Select item 984915	NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)	NCDN (P635L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GPathogenic
Select item 984914	NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg)	NCDN (W481R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GPathogenic
Select item 984913	NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)	NCDN (R461Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GPathogenic
Select item 984912	NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln)	NCDN (E416Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely pathogenic