C0393706[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68551	NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	LOC102724058, SCN1A (I1534V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic
Select item 265745	NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	NPHP3-ACAD11, UBA5 (A371T +3 more)	Single nucleotide variant (missense variant)	UBA5-Related Disorders +5 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 1775	NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)	SLC25A22 (P206L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 691281	NM_002080.4(GOT2):c.1097G>T (p.Gly366Val)	GOT2 (G323V +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 691280	NM_002080.4(GOT2):c.784C>G (p.Arg262Gly)	GOT2 (R219G +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 489299	NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)	CDKL5 (R948*)	Single nucleotide variant (nonsense +1 more)	CDKL5 disorder	GPathogenic FDA Recognized database

ClinVar