CDK13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 more	Copy number loss	See cases	GPathogenic
Select item 151971	GRCh38/hg38 7p14.1(chr7:39251052-40641073)x1	LOC113748390, LOC121175340 +37 more	Copy number loss	See cases	GUncertain significance
Select item 148619	GRCh38/hg38 7p14.1(chr7:39670747-40871336)x3	CDK13, CDK13-DT +25 more	Copy number gain	See cases	GUncertain significance
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 2501358	NM_003718.5(CDK13):c.13T>C (p.Ser5Pro)	CDK13 (S5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632389	NM_003718.5(CDK13):c.18C>G (p.Asp6Glu)	CDK13 (D6E)	Single nucleotide variant (missense variant)	CDK13-related condition	GUncertain significance
Select item 2109336	NM_003718.5(CDK13):c.18C>A (p.Asp6Glu)	CDK13 (D6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635333	NM_003718.5(CDK13):c.20C>T (p.Thr7Met)	CDK13 (T7M)	Single nucleotide variant (missense variant)	CDK13-related condition	GUncertain significance
Select item 2201066	NM_003718.5(CDK13):c.47G>C (p.Ser16Thr)	CDK13 (S16T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2016809	NM_003718.5(CDK13):c.48C>G (p.Ser16Arg)	CDK13 (S16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709721	NM_003718.5(CDK13):c.51G>A (p.Trp17Ter)	CDK13 (W17*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2887318	NM_003718.5(CDK13):c.60G>A (p.Lys20=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441717	NM_003718.5(CDK13):c.70G>T (p.Glu24Ter)	CDK13 (E24*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 3014707	NM_003718.5(CDK13):c.94C>G (p.Leu32Val)	CDK13 (L32V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2918830	NM_003718.5(CDK13):c.94C>T (p.Leu32=)	CDK13	Single nucleotide variant (synonymous variant)	CDK13-related condition +1 more	GLikely benign
Select item 2723578	NM_003718.5(CDK13):c.97T>C (p.Ser33Pro)	CDK13 (S33P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901715	NM_003718.5(CDK13):c.99C>T (p.Ser33=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054531	NM_003718.5(CDK13):c.100C>T (p.Pro34Ser)	CDK13 (P34S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725119	NM_003718.5(CDK13):c.115C>T (p.Leu39=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2881421	NM_003718.5(CDK13):c.118C>T (p.Leu40=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576177	NM_003718.5(CDK13):c.135_149dup (p.Pro51_Pro52insGlnLeuLeuGlnPro)	CDK13	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2070277	NM_003718.5(CDK13):c.133C>A (p.Gln45Lys)	CDK13 (Q45K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800860	NM_003718.5(CDK13):c.140_154dup (p.Pro51_Pro52insGlnLeuLeuGlnPro)	CDK13	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2892994	NM_003718.5(CDK13):c.142C>T (p.Leu48Phe)	CDK13 (L48F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056869	NM_003718.5(CDK13):c.144C>T (p.Leu48=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320640	NM_003718.5(CDK13):c.146T>C (p.Leu49Pro)	CDK13 (L49P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662206	NM_003718.5(CDK13):c.149A>C (p.Gln50Pro)	CDK13 (Q50P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723513	NM_003718.5(CDK13):c.159_170dup (p.Pro57_Leu58insProProProPro)	CDK13	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 2868838	NM_003718.5(CDK13):c.167_175del (p.Pro56_Leu58del)	CDK13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2880450	NM_003718.5(CDK13):c.172C>T (p.Leu58=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657396	NM_003718.5(CDK13):c.172C>G (p.Leu58Val)	CDK13 (L58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497940	NM_003718.5(CDK13):c.173T>C (p.Leu58Pro)	CDK13 (L58P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895384	NM_003718.5(CDK13):c.177C>T (p.Leu59=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521173	NM_003718.5(CDK13):c.181del (p.Leu61fs)	CDK13 (L61fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2844284	NM_003718.5(CDK13):c.192C>G (p.Pro64=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779933	NM_003718.5(CDK13):c.195C>A (p.Gly65=)	LOC129998292, CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876973	NM_003718.5(CDK13):c.210_224dup (p.Ala76_Ser77insAlaAlaAlaAlaAla)	CDK13, LOC129998292	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2850310	NM_003718.5(CDK13):c.210_224del (p.Ala72_Ala76del)	CDK13, LOC129998292	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2777377	NM_003718.5(CDK13):c.210_218dup (p.Ala76_Ser77insAlaAlaAla)	CDK13, LOC129998292	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2803371	NM_003718.5(CDK13):c.210_215dup (p.Ala76_Ser77insAlaAla)	CDK13, LOC129998292	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2817762	NM_003718.5(CDK13):c.209C>T (p.Ala70Val)	CDK13, LOC129998292 (A70V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880422	NM_003718.5(CDK13):c.214_228dup (p.Ala76_Ser77insAlaAlaAlaAlaAla)	CDK13, LOC129998292	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2871092	NM_003718.5(CDK13):c.213CGC[6] (p.Ala76_Ser77insAlaAla)	CDK13, LOC129998292	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2163756	NM_003718.5(CDK13):c.210A>C (p.Ala70=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983919	NM_003718.5(CDK13):c.213CGC[5] (p.Ala76_Ser77insAla)	CDK13, LOC129998292	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2770652	NM_003718.5(CDK13):c.214G>A (p.Ala72Thr)	CDK13, LOC129998292 (A72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696710	NM_003718.5(CDK13):c.218C>T (p.Ala73Val)	CDK13, LOC129998292 (A73V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 1800614	NM_003718.5(CDK13):c.224C>T (p.Ala75Val)	CDK13, LOC129998292 (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890039	NM_003718.5(CDK13):c.228CTC[2] (p.Ser79del)	CDK13, LOC129998292 (S79del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2110757	NM_003718.5(CDK13):c.227C>T (p.Ala76Val)	CDK13, LOC129998292 (A76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919322	NM_003718.5(CDK13):c.229T>G (p.Ser77Ala)	CDK13, LOC129998292 (S77A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142130	NM_003718.5(CDK13):c.231C>T (p.Ser77=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166446	NM_003718.5(CDK13):c.232T>A (p.Ser78Thr)	CDK13, LOC129998292 (S78T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784863	NM_003718.5(CDK13):c.233C>T (p.Ser78Phe)	CDK13, LOC129998292 (S78F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728613	NM_003718.5(CDK13):c.240C>T (p.Cys80=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178251	NM_003718.5(CDK13):c.243C>T (p.Phe81=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063676	NM_003718.5(CDK13):c.247C>T (p.Pro83Ser)	CDK13, LOC129998292 (P83S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2871135	NM_003718.5(CDK13):c.248C>G (p.Pro83Arg)	CDK13, LOC129998292 (P83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874821	NM_003718.5(CDK13):c.251G>C (p.Gly84Ala)	LOC129998292, CDK13 (G84A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633180	NM_003718.5(CDK13):c.251G>T (p.Gly84Val)	CDK13, LOC129998292 (G84V)	Single nucleotide variant (missense variant)	CDK13-related condition	GUncertain significance
Select item 2116449	NM_003718.5(CDK13):c.257dup (p.Leu87fs)	CDK13, LOC129998292 (L87fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2416931	NM_003718.5(CDK13):c.252C>T (p.Gly84=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903917	NM_003718.5(CDK13):c.253C>T (p.Pro85Ser)	CDK13, LOC129998292 (P85S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2794253	NM_003718.5(CDK13):c.255C>T (p.Pro85=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415871	NM_003718.5(CDK13):c.273G>C (p.Arg91=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173037	NM_003718.5(CDK13):c.278C>T (p.Ala93Val)	CDK13, LOC129998292 (A93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2408295	NM_003718.5(CDK13):c.283G>A (p.Gly95Ser)	CDK13, LOC129998292 (G95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186738	NM_003718.5(CDK13):c.291G>A (p.Arg97=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077425	NM_003718.5(CDK13):c.312G>A (p.Lys104=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908395	NM_003718.5(CDK13):c.324G>A (p.Gly108=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505174	NM_003718.5(CDK13):c.325C>T (p.Pro109Ser)	CDK13, LOC129998292 (P109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2318914	NM_003718.5(CDK13):c.329G>A (p.Arg110His)	CDK13, LOC129998292 (R110H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429585	NM_003718.5(CDK13):c.331G>C (p.Ala111Pro)	CDK13, LOC129998292 (A111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034771	NM_003718.5(CDK13):c.352_353insCGGGCGGA (p.Arg118fs)	CDK13, LOC129998292 (R118fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2596063	NM_003718.5(CDK13):c.359T>G (p.Val120Gly)	CDK13, LOC129998292 (V120G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1997099	NM_003718.5(CDK13):c.360C>T (p.Val120=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1366573	NM_003718.5(CDK13):c.370C>T (p.Pro124Ser)	CDK13, LOC129998292 (P124S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1983915	NM_003718.5(CDK13):c.372C>T (p.Pro124=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782448	NM_003718.5(CDK13):c.377C>A (p.Pro126Gln)	CDK13, LOC129998292 (P126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978649	NM_003718.5(CDK13):c.377C>T (p.Pro126Leu)	CDK13, LOC129998292 (P126L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2898500	NM_003718.5(CDK13):c.393T>C (p.Gly131=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657397	NM_003718.5(CDK13):c.396C>G (p.Gly132=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892240	NM_003718.5(CDK13):c.400G>A (p.Ala134Thr)	CDK13, LOC129998292 (A134T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2070315	NM_003718.5(CDK13):c.401C>G (p.Ala134Gly)	CDK13, LOC129998292 (A134G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2793717	NM_003718.5(CDK13):c.409G>C (p.Gly137Arg)	CDK13, LOC129998292 (G137R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180263	NM_003718.5(CDK13):c.419T>G (p.Val140Gly)	CDK13, LOC129998292 (V140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810162	NM_003718.5(CDK13):c.420G>A (p.Val140=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523961	NM_003718.5(CDK13):c.425dup (p.Leu143fs)	CDK13, LOC129998292 (L143fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2158090	NM_003718.5(CDK13):c.426G>A (p.Pro142=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027212	NM_003718.5(CDK13):c.441G>C (p.Glu147Asp)	CDK13, LOC129998292 (E147D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 732847	NM_003718.5(CDK13):c.441G>A (p.Glu147=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954799	NM_003718.5(CDK13):c.452C>T (p.Ser151Phe)	CDK13, LOC129998292 (S151F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1215514	NM_003718.5(CDK13):c.454C>T (p.Gln152Ter)	CDK13, LOC129998292 (Q152*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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