C4750718[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 918032	NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)	CDKL5 (G20V)	Single nucleotide variant (missense variant)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 158187	NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)	CDKL5 (E21G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 434661	NM_001323289.2(CDKL5):c.65-4A>G	CDKL5	Single nucleotide variant (intron variant)	CDKL5 disorder	GUncertain significance FDA Recognized database
Select item 143831	NM_003159.2(CDKL5):c.65dupG	CDKL5	Duplication	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 94115	NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 143772	NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)	CDKL5 (K42R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 158179	NM_001323289.2(CDKL5):c.146-1G>A	CDKL5	Single nucleotide variant (splice acceptor variant)	CDKL5 disorder	GLikely pathogenic FDA Recognized database
Select item 143783	NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)	CDKL5 (R59*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 94107	NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 143791	NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)	CDKL5 (L67F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GConflicting classifications of pathogenicity
Select item 158182	NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val)	CDKL5 (G83V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 158184	NM_001323289.2(CDKL5):c.283-13A>G	CDKL5	Single nucleotide variant (intron variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 143822	NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)	CDKL5 (Y171*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 158185	NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg)	CDKL5 (W176R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 143825	NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)	CDKL5 (L184fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 94114	NM_001323289.2(CDKL5):c.555-19C>G	CDKL5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 143826	NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)	CDKL5 (D193G)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely pathogenic FDA Recognized database
Select item 143827	NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	CDKL5 (S196L)	Single nucleotide variant (missense variant)	Angelman syndrome-like +3 more	GPathogenic/Likely pathogenic
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 143835	NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser)	CDKL5 (R285S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 158188	NM_001323289.2(CDKL5):c.969G>A (p.Leu323=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 210642	NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 158176	NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +2 more	GLikely benign
Select item 434662	NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)	CDKL5	Deletion (inframe_indel)	CDKL5 disorder	GUncertain significance FDA Recognized database
Select item 143775	NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)	CDKL5 (R444C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 136711	NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +3 more	GBenign/Likely benign
Select item 434663	NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter)	CDKL5 (E449*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 158177	NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs)	CDKL5 (E449fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 158178	NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg)	CDKL5 (H467R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +2 more	GBenign/Likely benign
Select item 136712	NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +4 more	GBenign/Likely benign
Select item 434664	NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)	CDKL5 (L522V)	Single nucleotide variant (missense variant)	CDKL5 disorder	GBenign 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 158180	NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala)	CDKL5 (T560A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 434665	NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs)	CDKL5 (T562fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 434666	NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala)	CDKL5 (T562A)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 210643	NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 158181	NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs)	CDKL5 (S600fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 94106	NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)	CDKL5	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 143790	NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)	CDKL5 (Q652*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 94108	NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)	CDKL5 (T734A)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 210644	NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +2 more	GConflicting classifications of pathogenicity
Select item 136713	NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)	CDKL5 (Q791P)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 143804	NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)	CDKL5 (Q805*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2	GPathogenic/Likely pathogenic
Select item 377094	NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)	CDKL5 (R822H)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 143807	NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)	CDKL5 (R858fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 143808	NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)	CDKL5 (Q865*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 156691	NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)	CDKL5 (Q866*)	Single nucleotide variant (nonsense)	Angelman syndrome-like +2 more	GPathogenic
Select item 143809	NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)	CDKL5 (L879fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 94109	NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)	CDKL5 (G885R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 158183	NM_000330.4(RS1):c.185-3100G>T	CDKL5, RS1 (D940E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 434667	NM_000330.4(RS1):c.185-3137C>A	CDKL5, RS1 (A953S)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 210646	NM_000330.4(RS1):c.185-3176C>T	CDKL5, RS1 (V966I)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GBenign FDA Recognized database
Select item 156694	NM_000330.4(RS1):c.185-3207G>A	CDKL5, RS1 (P976L)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 377651	NM_000330.4(RS1):c.185-3213A>C	CDKL5, RS1 (L978R)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 94110	NM_000330.4(RS1):c.184+3207C>T	CDKL5, RS1 (V999M)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 94111	NM_000330.4(RS1):c.184+3199G>A	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	CDKL5 disorder	GBenign FDA Recognized database
Select item 156695	NM_000330.4(RS1):c.184+3194A>G	CDKL5, RS1 (M1003T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +3 more	GConflicting classifications of pathogenicity
Select item 94112	NM_000330.4(RS1):c.184+3118C>T	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	CDKL5 disorder	GBenign FDA Recognized database

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Items: 58