"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CACNA1E"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 767734	NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)	CACNA1E	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign
Select item 1170815	NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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
Select item 1329624	NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=)	CACNA1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1406622	NM_001205293.3(CACNA1E):c.3262A>G (p.Ile1088Val)	CACNA1E (I1069V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GConflicting classifications of pathogenicity
Select item 1244638	NM_001205293.3(CACNA1E):c.3263-15G>A	CACNA1E	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign
Select item 1168554	NM_001205293.3(CACNA1E):c.4882-6_4882-4del	CACNA1E	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1342125	NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln)	CACNA1E (R2021Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69	GUncertain significance
Select item 1304749	NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His)	CACNA1E (R2054H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +1 more	GBenign/Likely benign