"OMIM"[submitter] AND "CACNA1E"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265066	NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	CACNA1E (G352R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 390468	NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu)	CACNA1E (I603L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GPathogenic/Likely pathogenic
Select item 224995	NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)	CACNA1E (F698S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 617451	NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)	CACNA1E (I701V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1703708	NM_001205293.3(CACNA1E):c.2104G>T (p.Ala702Ser)	CACNA1E (A702S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GPathogenic
Select item 521483	NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	CACNA1E (A702T)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1 +3 more	GPathogenic/Likely pathogenic

ClinVar