"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NIPAL4-DT"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 776086	NM_001037333.3(CYFIP2):c.3153C>T (p.Ala1051=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 65 +1 more	GBenign/Likely benign
Select item 1478609	NM_001037333.3(CYFIP2):c.3164C>T (p.Pro1055Leu)	NIPAL4-DT, CYFIP2 (P1055L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 65 +2 more	GUncertain significance
Select item 788527	NM_001037333.3(CYFIP2):c.3336G>A (p.Pro1112=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1574041	NM_001037333.3(CYFIP2):c.3405C>T (p.Phe1135=)	CYFIP2, NIPAL4-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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