ClinVar for Gene (Select 6792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363888	NM_000330.4(RS1):c.184+3146A>T	CDKL5, RS1 (L1019Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360662	NM_001323289.2(CDKL5):c.2522A>G (p.Lys841Arg)	CDKL5 (K841R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359587	NM_001323289.2(CDKL5):c.1014C>G (p.His338Gln)	CDKL5 (H338Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352372	NM_001323289.2(CDKL5):c.-241T>A	CDKL5	Single nucleotide variant (5 prime UTR variant)	CDKL5-related disorder	GLikely benign
Select item 3349963	NM_001323289.2(CDKL5):c.2153-6A>C	CDKL5	Single nucleotide variant (intron variant)	CDKL5-related disorder	GLikely benign
Select item 3348853	NM_001323289.2(CDKL5):c.1294A>C (p.Lys432Gln)	CDKL5 (K432Q)	Single nucleotide variant (missense variant)	CDKL5-related disorder	GUncertain significance
Select item 3348824	NM_001323289.2(CDKL5):c.1849C>T (p.Arg617Cys)	CDKL5 (R617C)	Single nucleotide variant (missense variant)	CDKL5-related disorder	GUncertain significance
Select item 3347013	NM_001323289.2(CDKL5):c.99+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	CDKL5-related disorder	GLikely pathogenic
Select item 3345106	NM_001323289.2(CDKL5):c.27G>A (p.Val9=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5-related disorder	GUncertain significance
Select item 3344019	NM_001323289.2(CDKL5):c.577G>C (p.Asp193His)	CDKL5 (D193H)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344018	NM_001323289.2(CDKL5):c.404A>G (p.Asp135Gly)	CDKL5 (D135G)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3344017	NM_001323289.2(CDKL5):c.395T>G (p.Val132Gly)	CDKL5 (V132G)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344016	NM_001323289.2(CDKL5):c.65G>T (p.Gly22Val)	CDKL5 (G22V)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344015	NM_001323289.2(CDKL5):c.428T>A (p.Ile143Asn)	CDKL5 (I143N)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3344014	NM_001323289.2(CDKL5):c.377G>A (p.Cys126Tyr)	CDKL5 (C126Y)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3344013	NM_001323289.2(CDKL5):c.433C>T (p.His145Tyr)	CDKL5 (H145Y)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3344012	NM_001323289.2(CDKL5):c.518C>A (p.Ala173Asp)	CDKL5 (A173D)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3344011	NM_001323289.2(CDKL5):c.536C>T (p.Ser179Phe)	CDKL5 (S179F)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3344010	NM_001323289.2(CDKL5):c.64+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344009	NM_001323289.2(CDKL5):c.64+2T>C	CDKL5	Single nucleotide variant (splice donor variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344008	NM_001323289.2(CDKL5):c.282+3_282+6del	CDKL5	Microsatellite (splice donor variant)	CDKL5 disorder	GUncertain significance
Select item 3344007	NM_001323289.2(CDKL5):c.1030_1031insGAC (p.Lys344delinsArgGln)	CDKL5	Insertion (inframe_indel)	CDKL5 disorder	GUncertain significance
Select item 3344006	NM_001323289.2(CDKL5):c.1371dup (p.Leu458fs)	CDKL5 (L458fs)	Duplication (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344005	NM_001323289.2(CDKL5):c.2711del (p.Pro904fs)	CDKL5 (P904fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344004	NM_001323289.2(CDKL5):c.2420_2430del (p.Ser807fs)	CDKL5 (S807fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344003	NM_001323289.2(CDKL5):c.234del (p.Arg80fs)	CDKL5 (R80fs)	Deletion (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 3344002	NM_001323289.2(CDKL5):c.2360del (p.Lys787fs)	CDKL5 (K787fs)	Deletion (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 3344001	NM_001323289.2(CDKL5):c.2047-2A>G	CDKL5	Single nucleotide variant (splice acceptor variant)	CDKL5 disorder	GLikely pathogenic
Select item 3344000	NM_001323289.2(CDKL5):c.1925del (p.Leu642fs)	CDKL5 (L642fs)	Deletion (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 3343999	NM_001323289.2(CDKL5):c.890_891dup (p.Gln298fs)	CDKL5 (Q298fs)	Duplication (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 3343998	NM_001323289.2(CDKL5):c.1581del (p.Thr528fs)	CDKL5 (T528fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3343997	NM_001323289.2(CDKL5):c.2225_2228del (p.Glu742fs)	CDKL5 (E742fs)	Microsatellite (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 3343996	NM_001323289.2(CDKL5):c.1612A>G (p.Thr538Ala)	CDKL5 (T538A)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3343995	NM_001323289.2(CDKL5):c.1791del (p.Tyr598fs)	CDKL5 (Y598fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3343994	NM_001323289.2(CDKL5):c.1741C>T (p.His581Tyr)	CDKL5 (H581Y)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3343993	NM_001323289.2(CDKL5):c.1547_1554del (p.Tyr516fs)	CDKL5 (Y516fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3343992	NM_001323289.2(CDKL5):c.857dup (p.Tyr286Ter)	CDKL5 (Y286*)	Duplication (nonsense)	CDKL5 disorder	GLikely pathogenic
Select item 3343991	NM_001323289.2(CDKL5):c.825+1G>T	CDKL5	Single nucleotide variant (splice donor variant)	CDKL5 disorder	GLikely pathogenic
Select item 3343990	NM_001323289.2(CDKL5):c.825+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	CDKL5 disorder	GUncertain significance
Select item 3343989	NM_001323289.2(CDKL5):c.620G>A (p.Gly207Glu)	CDKL5 (G207E)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 3343988	NM_001323289.2(CDKL5):c.859_868del (p.Leu287fs)	CDKL5 (L287fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3343987	NM_001323289.2(CDKL5):c.1790dup (p.Tyr598fs)	CDKL5 (Y598fs)	Duplication (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 3343986	NM_001323289.2(CDKL5):c.146-6T>G	CDKL5	Single nucleotide variant (intron variant)	CDKL5 disorder	GUncertain significance
Select item 3343985	NM_001323289.2(CDKL5):c.1390C>T (p.Gln464Ter)	CDKL5 (Q464*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GPathogenic
Select item 3343984	NM_001323289.2(CDKL5):c.1942C>T (p.Gln648Ter)	CDKL5 (Q648*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GLikely pathogenic
Select item 3343983	NM_001323289.2(CDKL5):c.1782T>G (p.Tyr594Ter)	CDKL5 (Y594*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GLikely pathogenic
Select item 3343982	NM_001323289.2(CDKL5):c.2564C>G (p.Ser855Ter)	CDKL5 (S855*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GPathogenic
Select item 3343981	NM_001323289.2(CDKL5):c.100-9_100-3delinsGCAGA	CDKL5	Indel (intron variant)	CDKL5 disorder	GUncertain significance
Select item 3342315	NM_001323289.2(CDKL5):c.584G>A (p.Trp195Ter)	CDKL5 (W195*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342270	NM_000330.4(RS1):c.375_389del (p.Asp126_Ile130del)	CDKL5, RS1	Deletion (inframe_deletion +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 3341003	NM_001323289.2(CDKL5):c.2011G>A (p.Gly671Ser)	CDKL5 (G671S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340613	NM_001323289.2(CDKL5):c.365C>T (p.Ala122Val)	CDKL5 (A122V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340201	NM_001323289.2(CDKL5):c.528G>A (p.Trp176Ter)	CDKL5 (W176*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339552	NM_000330.4(RS1):c.365G>A (p.Trp122Ter)	CDKL5, RS1 (W122*)	Single nucleotide variant (nonsense +1 more)	Juvenile retinoschisis	GPathogenic
Select item 3338396	NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)	CDKL5 (N276S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 3337898	NM_001323289.2(CDKL5):c.493A>G (p.Asn165Asp)	CDKL5 (N165D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337259	NM_001323289.2(CDKL5):c.1051_1052del (p.Val351fs)	CDKL5 (V351fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3336621	NM_001323289.2(CDKL5):c.1037_1038delinsCAGATCTAA (p.Ile346fs)	CDKL5 (I346fs)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3336578	NM_000330.4(RS1):c.583A>G (p.Ile195Val)	CDKL5, RS1 (I195V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265536	NM_001323289.2(CDKL5):c.2587A>G (p.Thr863Ala)	CDKL5 (T863A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3265535	NM_003159.3(CDKL5):c.2972A>G (p.Gln991Arg)	CDKL5, RS1 (Q991R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3265534	NM_001323289.2(CDKL5):c.242G>A (p.Arg81Gln)	CDKL5 (R81Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255612	NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)	CDKL5 (T472fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3254616	NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)	CDKL5 (P654L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 3252238	NM_001323289.2(CDKL5):c.2533C>T (p.Leu845Phe)	CDKL5 (L845F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250865	NM_001323289.2(CDKL5):c.2377-1212A>G	CDKL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3245777	NC_000023.10:g.(?_18662530)_(18665472_?)del	CDKL5, RS1	Deletion	not provided	GPathogenic
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3244366	NC_000023.10:g.(?_18534398)_(18600033_?)del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244354	NC_000023.10:g.(?_18525053)_(18623008_?)dup	CDKL5	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244343	NC_000023.10:g.(?_18660124)_(18690188_?)dup	CDKL5, RS1	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244334	NC_000023.10:g.(?_18599991)_(18600090_?)dup	CDKL5	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244325	NC_000023.10:g.(?_18525053)_(18671664_?)dup	CDKL5, RS1	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244315	NC_000023.10:g.(?_18593454)_(18598108_?)del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244304	NC_000023.10:g.(?_18593454)_(18690188_?)del	CDKL5, RS1	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244293	NC_000023.10:g.(?_18582577)_(18598108_?)del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244282	NC_000023.10:g.(?_18525053)_(18662765_?)del	CDKL5, RS1	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244271	NC_000023.10:g.(?_18626911)_(18643387_?)del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244260	NC_000023.10:g.(?_18525053)_(18525300_?)del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235098	NM_001323289.2(CDKL5):c.1772C>G (p.Ser591Cys)	CDKL5 (S591C)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 3235042	NM_001323289.2(CDKL5):c.1744del (p.Ser582fs)	CDKL5 (S582fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3220934	NM_000330.4(RS1):c.395T>G (p.Val132Gly)	CDKL5, RS1 (V132G)	Single nucleotide variant (missense variant +1 more)	Retinoschisis	GLikely pathogenic
Select item 3141641	NM_001323289.2(CDKL5):c.2560T>C (p.Ser854Pro)	CDKL5 (S854P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069002	NM_001323289.2(CDKL5):c.2596C>G (p.Gln866Glu)	CDKL5 (Q866E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069001	NC_000023.10:g.(18668713_18671551)_(18671750_?)del	CDKL5, RS1	Deletion	not specified	GUncertain significance
Select item 3065134	NM_003159.2(CDKL5):c.464_484del	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3063987	NM_001323289.2(CDKL5):c.2153-3C>T	CDKL5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062524	GRCh37/hg19 Xp22.13(chrX:18660647-18876579)	CDKL5, PPEF1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062268	NM_001037343.2(CDKL5):c.2787del (p.Glu930fs)	CDKL5, RS1 (E930fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3039544	NM_001323289.2(CDKL5):c.-7T>G	CDKL5	Single nucleotide variant (5 prime UTR variant)	CDKL5-related disorder	GLikely benign
Select item 3035108	NM_000330.4(RS1):c.*2G>T	CDKL5, RS1	Single nucleotide variant (3 prime UTR variant +1 more)	RS1-related disorder	GLikely benign
Select item 3026827	NM_003159.3(CDKL5):c.3034C>T (p.Gln1012Ter)	CDKL5, RS1 (Q1012*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3017518	NM_000330.4(RS1):c.523-4C>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016887	NM_000330.4(RS1):c.519C>T (p.Asn173=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016839	NM_000330.4(RS1):c.621C>A (p.His207Gln)	CDKL5, RS1 (H207Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3014221	NM_000330.4(RS1):c.423C>A (p.Arg141=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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