"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931974	NM_001323289.2(CDKL5):c.403+5G>A	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 158186	NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)	CDKL5 (Q208*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +8 more	GPathogenic
Select item 373904	NM_001323289.2(CDKL5):c.1471_1472dup (p.Leu492fs)	CDKL5 (L492fs)	Duplication (frameshift variant)	Developmental delay +1 more	GLikely pathogenic
Select item 642554	NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)	CDKL5 (T803M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GConflicting classifications of pathogenicity
Select item 931958	NM_000330.4(RS1):c.649del (p.Leu217fs)	CDKL5, RS1 (L217fs)	Deletion (frameshift variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 930876	NM_000330.4(RS1):c.320G>T (p.Gly107Val)	CDKL5, RS1 (G107V)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GUncertain significance
Select item 9888	NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	CDKL5, RS1 (E72K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 930627	NM_000330.4(RS1):c.185-3221G>A	CDKL5, RS1 (R981*)	Single nucleotide variant (nonsense +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database