C4750718[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11502	NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)	CDKL5 (A40V)	Single nucleotide variant (missense variant)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 813766	NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)	CDKL5 (K45N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 870351	NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs)	CDKL5 (L119fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 620059	NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe)	CDKL5 (V132F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 813762	NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs)	CDKL5 (Q300fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
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 1072616	NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs)	CDKL5 (V659fs)	Microsatellite (frameshift variant)	Angelman syndrome-like +1 more	GPathogenic
Select item 813729	NM_001323289.2(CDKL5):c.2276+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic/Likely pathogenic
Select item 813741	NM_001037343.1:c.100-?_744+?dup	CDKL5	Duplication	Developmental and epileptic encephalopathy, 2	GLikely pathogenic