C4750718[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136709	NM_001323289.2(CDKL5):c.145+17A>G	CDKL5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 143770	NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr)	CDKL5 (N399T)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 143781	NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	CDKL5 (R559*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +2 more	GPathogenic/Likely pathogenic
Select item 194499	NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)	CDKL5 (N748S)	Single nucleotide variant (missense variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 156693	NM_000330.4(RS1):c.326+1159C>G	CDKL5, RS1 (Q913H)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database

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