CDKL3[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 58362	GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1	C5orf15, C5orf24 +100 more	Copy number loss	See cases	GPathogenic
Select item 2527593	NM_001113575.2(CDKL3):c.1687C>G (p.Leu563Val)	CDKL3 (L268V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351383	NM_001113575.2(CDKL3):c.1686A>T (p.Leu562Phe)	CDKL3 (L373F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787043	NM_001113575.2(CDKL3):c.1428T>C (p.Asn476=)	CDKL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141633	NM_001113575.2(CDKL3):c.1415A>G (p.Gln472Arg)	CDKL3 (Q472R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359592	NM_001113575.2(CDKL3):c.1390C>T (p.Arg464Cys)	CDKL3 (R464C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141632	NM_001113575.2(CDKL3):c.1389A>T (p.Arg463Ser)	CDKL3 (R168S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141631	NM_001113575.2(CDKL3):c.1180A>G (p.Met394Val)	CDKL3 (M99V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400316	NM_001113575.2(CDKL3):c.1169A>G (p.Asn390Ser)	CDKL3 (N390S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518119	NM_001113575.2(CDKL3):c.1125G>T (p.Lys375Asn)	CDKL3 (K186N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543256	NM_001113575.2(CDKL3):c.1102G>C (p.Gly368Arg)	CDKL3 (G368R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252993	NM_001113575.2(CDKL3):c.1060A>G (p.Lys354Glu)	CDKL3 (K354E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481168	NM_001113575.2(CDKL3):c.1040T>C (p.Ile347Thr)	CDKL3 (I158T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475852	NM_001113575.2(CDKL3):c.1030G>A (p.Gly344Arg)	CDKL3 (G155R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790795	NM_001113575.2(CDKL3):c.891A>G (p.Pro297=)	CDKL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2537703	NM_001113575.2(CDKL3):c.827C>T (p.Ser276Leu)	CDKL3 (S276L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394873	NM_001113575.2(CDKL3):c.808G>A (p.Asp270Asn)	CDKL3 (D270N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462072	NM_001113575.2(CDKL3):c.803A>C (p.Gln268Pro)	CDKL3 (Q268P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225716	NM_001113575.2(CDKL3):c.785T>C (p.Ile262Thr)	CDKL3 (I262T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356605	NM_001113575.2(CDKL3):c.599A>G (p.Tyr200Cys)	CDKL3 (Y11C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141636	NM_001113575.2(CDKL3):c.491G>A (p.Arg164His)	CDKL3 (R164H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510468	NM_001113575.2(CDKL3):c.479A>G (p.Tyr160Cys)	CDKL3 (Y160C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3141635	NM_001113575.2(CDKL3):c.443G>A (p.Arg148Gln)	CDKL3 (R148Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603114	NM_001113575.2(CDKL3):c.418A>G (p.Lys140Glu)	CDKL3 (K140E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364105	NM_001113575.2(CDKL3):c.406T>A (p.Ser136Thr)	CDKL3 (S136T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251346	NM_001113575.2(CDKL3):c.355A>G (p.Asn119Asp)	CDKL3 (N119D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3141634	NM_001113575.2(CDKL3):c.226C>A (p.His76Asn)	CDKL3 (H76N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474104	NM_001113575.2(CDKL3):c.177C>A (p.His59Gln)	CDKL3 (H59Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378876	NM_001113575.2(CDKL3):c.94A>G (p.Ile32Val)	CDKL3 (I32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508316	NM_001113575.2(CDKL3):c.23G>A (p.Gly8Glu)	CDKL3 (G8E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 135630	NM_003337.4(UBE2B):c.23G>C (p.Arg8Thr)	CDKL3, UBE2B (R8T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	C5orf24, CAMLG +21 more	Duplication	not provided	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 687457	GRCh37/hg19 5q31.1(chr5:133603493-133664519)x3	CDKL3	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 51