ClinVar for Gene (Select 8621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378326	NM_003718.5(CDK13):c.322G>C (p.Gly108Arg)	CDK13, LOC129998292 (G108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377597	NM_003718.5(CDK13):c.1865C>T (p.Ala622Val)	CDK13 (A622V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 3375840	NM_003718.5(CDK13):c.3208T>C (p.Ser1070Pro)	CDK13 (S1070P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375626	NM_003718.5(CDK13):c.569G>T (p.Arg190Leu)	CDK13, LOC129998293 (R190L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375501	NM_003718.5(CDK13):c.537del (p.Ser180fs)	CDK13 (S180fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3372785	NM_003718.5(CDK13):c.2834C>T (p.Pro945Leu)	CDK13 (P945L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370869	NM_003718.5(CDK13):c.3929A>C (p.Gln1310Pro)	CDK13 (Q1250P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370606	NM_003718.5(CDK13):c.1012_1014del (p.Arg338del)	CDK13 (R338del)	Deletion	not provided	GUncertain significance
Select item 3369538	NM_003718.5(CDK13):c.3863G>A (p.Ser1288Asn)	CDK13 (S1228N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368867	NM_003718.5(CDK13):c.2148C>G (p.Tyr716Ter)	CDK13 (Y716*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3368303	NM_003718.5(CDK13):c.58A>T (p.Lys20Ter)	CDK13 (K20*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3367868	NM_003718.5(CDK13):c.32dup (p.Gly12fs)	CDK13 (G12fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3364784	NM_003718.5(CDK13):c.2980C>T (p.Gln994Ter)	CDK13 (Q994*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3364546	NM_003718.5(CDK13):c.4535A>T (p.Tyr1512Phe)	CDK13 (Y1452F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364070	NM_003718.5(CDK13):c.56_65del (p.Glu19fs)	CDK13 (E19fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3363834	NM_003718.5(CDK13):c.3643T>C (p.Ser1215Pro)	CDK13 (S1155P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362852	NM_003718.5(CDK13):c.3109G>A (p.Val1037Ile)	CDK13 (V1037I)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 3361031	NM_003718.5(CDK13):c.2134G>A (p.Gly712Arg)	CDK13 (G712R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3360542	NM_003718.5(CDK13):c.3395C>T (p.Pro1132Leu)	CDK13 (P1132L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359758	NM_003718.5(CDK13):c.2180C>G (p.Thr727Ser)	CDK13 (T727S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359755	NM_003718.5(CDK13):c.4281T>G (p.Phe1427Leu)	CDK13 (F1367L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359679	NM_003718.5(CDK13):c.2606C>T (p.Pro869Leu)	CDK13 (P869L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359609	NM_003718.5(CDK13):c.2267T>C (p.Leu756Pro)	CDK13 (L756P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359514	NM_003718.5(CDK13):c.2272C>T (p.Gln758Ter)	CDK13 (Q758*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3359383	NM_003718.5(CDK13):c.2046A>G (p.Ile682Met)	CDK13 (I682M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358465	NM_003718.5(CDK13):c.2697C>A (p.Ser899Arg)	CDK13 (S899R)	Single nucleotide variant (missense variant)	CDK13-related disorder	GUncertain significance
Select item 3352377	NM_003718.5(CDK13):c.501_509dup (p.Ala171_Gly172insThrAlaAla)	CDK13	Duplication (inframe_insertion)	CDK13-related disorder	GUncertain significance
Select item 3349748	NM_003718.5(CDK13):c.2515A>G (p.Lys839Glu)	CDK13 (K839E)	Single nucleotide variant (missense variant)	CDK13-related disorder	GUncertain significance
Select item 3346684	NM_003718.5(CDK13):c.1329_1332del (p.Leu443_Thr444insTer)	CDK13	Deletion (frameshift variant)	CDK13-related disorder	GLikely pathogenic
Select item 3346121	NM_003718.5(CDK13):c.4509CAGAGG[1] (p.1504RG[1])	CDK13	Microsatellite (inframe_deletion)	CDK13-related disorder	GUncertain significance
Select item 3343899	NM_003718.5(CDK13):c.2703-13T>A	CDK13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3343212	NM_003718.5(CDK13):c.1226C>A (p.Ser409Tyr)	CDK13 (S409Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342957	NM_003718.5(CDK13):c.2341AAG[1] (p.Lys782del)	CDK13 (K782del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3342692	NM_003718.5(CDK13):c.1830dup (p.Pro611fs)	CDK13 (P611fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342092	NM_003718.5(CDK13):c.527dup (p.Ser177fs)	CDK13 (S177fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3337897	NM_003718.5(CDK13):c.4025C>T (p.Ser1342Phe)	CDK13 (S1282F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336524	NC_000007.13:g.(40117721_40118318)_(40118451_40127724)del	CDK13	Deletion	not specified	GUncertain significance
Select item 3336516	NC_000007.13:g.(40102700_40117603)_(40118451_40127724)del	CDK13	Deletion	not specified	GUncertain significance
Select item 3265430	NM_003718.5(CDK13):c.1265C>T (p.Ser422Phe)	CDK13 (S422F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265429	NM_003718.5(CDK13):c.1656G>T (p.Leu552Phe)	CDK13 (L552F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3265428	NM_003718.5(CDK13):c.3902C>T (p.Ala1301Val)	CDK13 (A1241V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265427	NM_003718.5(CDK13):c.4450C>T (p.Pro1484Ser)	CDK13 (P1424S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265426	NM_003718.5(CDK13):c.3994A>G (p.Thr1332Ala)	CDK13 (T1272A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254690	NM_003718.5(CDK13):c.1490A>G (p.Lys497Arg)	CDK13 (K497R)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 3253342	NM_003718.5(CDK13):c.2465T>C (p.Met822Thr)	CDK13 (M822T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252816	NM_003718.5(CDK13):c.169C>G (p.Pro57Ala)	CDK13 (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252694	NM_003718.5(CDK13):c.373C>T (p.Gln125Ter)	CDK13, LOC129998292 (Q125*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3251077	NM_003718.5(CDK13):c.357G>A (p.Arg119=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3245880	NC_000007.13:g.(?_39990241)_(40027877_?)dup	CDK13	Duplication	not provided	GUncertain significance
Select item 3236078	NM_003718.5(CDK13):c.2091G>A (p.Trp697Ter)	CDK13 (W697*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 3235842	NM_003718.5(CDK13):c.194G>A (p.Gly65Asp)	CDK13, LOC129998292 (G65D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234772	NM_003718.5(CDK13):c.499G>A (p.Ala167Thr)	CDK13 (A167T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234749	NM_003718.5(CDK13):c.848C>T (p.Thr283Ile)	CDK13 (T283I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234667	NM_003718.5(CDK13):c.641G>T (p.Arg214Leu)	CDK13 (R214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234178	NM_003718.5(CDK13):c.3502C>T (p.Pro1168Ser)	CDK13 (P1108S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3233654	NM_003718.5(CDK13):c.184G>A (p.Ala62Thr)	CDK13 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233454	NM_003718.5(CDK13):c.1987A>T (p.Lys663Ter)	CDK13 (K663*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GPathogenic
Select item 3141497	NM_003718.5(CDK13):c.946C>T (p.Leu316Phe)	CDK13 (L316F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141496	NM_003718.5(CDK13):c.806G>C (p.Ser269Thr)	CDK13 (S269T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141495	NM_003718.5(CDK13):c.705C>G (p.His235Gln)	CDK13 (H235Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141494	NM_003718.5(CDK13):c.593C>T (p.Pro198Leu)	CDK13, LOC129998293 (P198L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3141492	NM_003718.5(CDK13):c.4502C>T (p.Ser1501Leu)	CDK13 (S1441L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141491	NM_003718.5(CDK13):c.41G>A (p.Gly14Asp)	CDK13 (G14D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141489	NM_003718.5(CDK13):c.401C>T (p.Ala134Val)	CDK13, LOC129998292 (A134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141488	NM_003718.5(CDK13):c.3629C>G (p.Ser1210Trp)	CDK13 (S1150W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141487	NM_003718.5(CDK13):c.2923T>C (p.Phe975Leu)	CDK13 (F975L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069011	NM_003718.5(CDK13):c.2543+5G>C	CDK13	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3069010	NM_003718.5(CDK13):c.724C>T (p.Arg242Trp)	CDK13 (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066156	NM_003718.5(CDK13):c.1783G>T (p.Glu595Ter)	CDK13 (E595*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GPathogenic
Select item 3064891	NM_003718.5(CDK13):c.3245G>A (p.Gly1082Asp)	CDK13 (G1082D)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 3063884	NM_003718.5(CDK13):c.930C>G (p.Tyr310Ter)	CDK13 (Y310*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GPathogenic
Select item 3063735	NM_003718.5(CDK13):c.1702A>C (p.Ser568Arg)	CDK13 (S568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 3058236	NM_003718.5(CDK13):c.4003T>G (p.Tyr1335Asp)	CDK13 (Y1275D +1 more)	Single nucleotide variant (missense variant)	CDK13-related disorder	GUncertain significance
Select item 3055651	NM_003718.5(CDK13):c.748AGC[4] (p.Ser254del)	CDK13 (S254del)	Microsatellite	CDK13-related disorder	GLikely benign
Select item 3052835	NM_003718.5(CDK13):c.513C>T (p.Ala171=)	CDK13	Single nucleotide variant (synonymous variant)	CDK13-related disorder	GLikely benign
Select item 3036917	NM_003718.5(CDK13):c.473T>C (p.Leu158Pro)	CDK13, LOC129998292 (L158P)	Single nucleotide variant (missense variant)	CDK13-related disorder	GUncertain significance
Select item 3032366	NM_003718.5(CDK13):c.2058C>A (p.Arg686=)	CDK13	Single nucleotide variant (synonymous variant)	CDK13-related disorder	GLikely benign
Select item 3031381	NM_003718.5(CDK13):c.4509CAGAGG[4] (p.Gly1509_Leu1510insArgGly)	CDK13	Microsatellite	CDK13-related disorder	GLikely benign
Select item 3026453	NM_003718.5(CDK13):c.4461A>G (p.Gly1487=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026116	NM_003718.5(CDK13):c.1023C>T (p.Pro341=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025062	NM_003718.5(CDK13):c.1644G>A (p.Val548=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020062	NM_003718.5(CDK13):c.3483_3484delinsGC (p.Ser1162Pro)	CDK13 (S1102P +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3017264	NM_003718.5(CDK13):c.907G>A (p.Asp303Asn)	CDK13 (D303N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016292	NM_003718.5(CDK13):c.1002C>A (p.Ser334Arg)	CDK13 (S334R)	Single nucleotide variant (missense variant)	not provided	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 3014142	NM_003718.5(CDK13):c.2058C>T (p.Arg686=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998004	NM_003718.5(CDK13):c.687C>T (p.Ser229=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993266	NM_003718.5(CDK13):c.3515C>G (p.Thr1172Ser)	CDK13 (T1112S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2987311	NM_003718.5(CDK13):c.1063C>T (p.Leu355=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984534	NM_003718.5(CDK13):c.1482A>G (p.Thr494=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962837	NM_003718.5(CDK13):c.3435A>G (p.Pro1145=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2954803	NM_003718.5(CDK13):c.1064T>A (p.Leu355Gln)	CDK13 (L355Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2919322	NM_003718.5(CDK13):c.229T>G (p.Ser77Ala)	LOC129998292, CDK13 (S77A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918830	NM_003718.5(CDK13):c.94C>T (p.Leu32=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918095	NM_003718.5(CDK13):c.2412A>G (p.Ser804=)	CDK13	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2913288	NM_003718.5(CDK13):c.4493T>C (p.Ile1498Thr)	CDK13 (I1438T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2906340	NM_003718.5(CDK13):c.1637C>T (p.Thr546Met)	CDK13 (T546M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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