C4750718[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226116	NM_001323289.2(CDKL5):c.747dup (p.Pro250fs)	CDKL5 (P250fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 437405	NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs)	CDKL5 (K787fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic