Related gene-specific medical variations for Gene (Select 8621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3235842	NM_003718.5(CDK13):c.194G>A (p.Gly65Asp)	CDK13, LOC129998292 (G65D)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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)	CDK13, LOC129998292 (S77A)	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 2903917	NM_003718.5(CDK13):c.253C>T (p.Pro85Ser)	CDK13, LOC129998292 (P85S)	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 2892240	NM_003718.5(CDK13):c.400G>A (p.Ala134Thr)	CDK13, LOC129998292 (A134T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2890039	NM_003718.5(CDK13):c.228CTC[2] (p.Ser79del)	CDK13, LOC129998292 (S79del)	Microsatellite (inframe_deletion)	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 2876973	NM_003718.5(CDK13):c.210_224dup (p.Ala76_Ser77insAlaAlaAlaAlaAla)	CDK13, LOC129998292	Duplication (inframe_insertion)	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 2871872	NM_003718.5(CDK13):c.581C>T (p.Ser194Leu)	CDK13, LOC129998293 (S194L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2871092	NM_003718.5(CDK13):c.213CGC[6] (p.Ala76_Ser77insAlaAla)	CDK13, LOC129998292	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2864641	NM_003718.5(CDK13):c.567G>C (p.Arg189=)	CDK13, LOC129998293	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850310	NM_003718.5(CDK13):c.210_224del (p.Ala72_Ala76del)	CDK13, LOC129998292	Deletion (inframe_deletion)	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 2810162	NM_003718.5(CDK13):c.420G>A (p.Val140=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808642	NM_003718.5(CDK13):c.589A>G (p.Arg197Gly)	CDK13, LOC129998293 (R197G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803371	NM_003718.5(CDK13):c.210_215dup (p.Ala76_Ser77insAlaAla)	CDK13, LOC129998292	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2794319	NM_003718.5(CDK13):c.608G>A (p.Arg203His)	CDK13, LOC129998293 (R203H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2793717	NM_003718.5(CDK13):c.409G>C (p.Gly137Arg)	CDK13, LOC129998292 (G137R)	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 2782448	NM_003718.5(CDK13):c.377C>A (p.Pro126Gln)	CDK13, LOC129998292 (P126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2777377	NM_003718.5(CDK13):c.210_218dup (p.Ala76_Ser77insAlaAlaAla)	CDK13, LOC129998292	Duplication (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 2760403	NM_003718.5(CDK13):c.468G>T (p.Gly156=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690476	NM_003718.5(CDK13):c.4334C>T (p.Thr1445Met)	CDK13 (T1385M +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely benign
Select item 2673100	NM_003718.5(CDK13):c.561C>T (p.Thr187=)	CDK13, LOC129998293	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672100	NM_003718.5(CDK13):c.3629C>A (p.Ser1210Ter)	CDK13 (S1150* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2657398	NM_003718.5(CDK13):c.593C>A (p.Pro198His)	CDK13, LOC129998293 (P198H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2633180	NM_003718.5(CDK13):c.251G>T (p.Gly84Val)	CDK13, LOC129998292 (G84V)	Single nucleotide variant (missense variant)	CDK13-related disorder	GUncertain significance
Select item 2633047	NM_003718.5(CDK13):c.476dup (p.Ala162fs)	CDK13, LOC129998292 (A162fs)	Duplication (frameshift variant)	CDK13-related disorder	GLikely pathogenic
Select item 2628627	NM_003718.5(CDK13):c.482G>C (p.Gly161Ala)	CDK13, LOC129998292 (G161A)	Single nucleotide variant (missense variant)	CDK13-related disorder	GUncertain significance
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 2580205	NM_003718.5(CDK13):c.2308del (p.Glu769_Ile770insTer)	CDK13	Deletion (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2575953	NM_003718.5(CDK13):c.2330C>G (p.Ala777Gly)	CDK13 (A777G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2439873	NM_003718.5(CDK13):c.1960G>A (p.Glu654Lys)	CDK13 (E654K)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2439872	NM_003718.5(CDK13):c.2996G>A (p.Arg999Gln)	CDK13 (R999Q)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2439870	NM_003718.5(CDK13):c.2450T>A (p.Phe817Tyr)	CDK13 (F817Y)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2439868	NM_003718.5(CDK13):c.3125C>G (p.Ala1042Gly)	CDK13 (A1042G)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	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 2416931	NM_003718.5(CDK13):c.252C>T (p.Gly84=)	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 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 2385975	NM_003718.5(CDK13):c.592_600del (p.Pro198_Arg200del)	CDK13, LOC129998293	Deletion (inframe_deletion)	Inborn genetic diseases	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 2300688	NM_003718.5(CDK13):c.563A>G (p.Gln188Arg)	CDK13, LOC129998293 (Q188R)	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 2180263	NM_003718.5(CDK13):c.419T>G (p.Val140Gly)	CDK13, LOC129998292 (V140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2171021	NM_003718.5(CDK13):c.482G>T (p.Gly161Val)	CDK13, LOC129998292 (G161V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2163756	NM_003718.5(CDK13):c.210A>C (p.Ala70=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2142130	NM_003718.5(CDK13):c.231C>T (p.Ser77=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116449	NM_003718.5(CDK13):c.257dup (p.Leu87fs)	CDK13, LOC129998292 (L87fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2080196	NM_003718.5(CDK13):c.604C>T (p.Arg202Cys)	CDK13, LOC129998293 (R202C)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2070315	NM_003718.5(CDK13):c.401C>G (p.Ala134Gly)	CDK13, LOC129998292 (A134G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2063676	NM_003718.5(CDK13):c.247C>T (p.Pro83Ser)	CDK13, LOC129998292 (P83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2034771	NM_003718.5(CDK13):c.352_353insCGGGCGGA (p.Arg118fs)	CDK13, LOC129998292 (R118fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2027212	NM_003718.5(CDK13):c.441G>C (p.Glu147Asp)	CDK13, LOC129998292 (E147D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2005096	NM_003718.5(CDK13):c.480G>A (p.Gly160=)	CDK13, LOC129998292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1983919	NM_003718.5(CDK13):c.213CGC[5] (p.Ala76_Ser77insAla)	CDK13, LOC129998292	Microsatellite (inframe_insertion)	not provided	GLikely benign
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 1981866	NM_003718.5(CDK13):c.608G>T (p.Arg203Leu)	CDK13, LOC129998293 (R203L)	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 1958213	NM_003718.5(CDK13):c.578G>A (p.Gly193Glu)	CDK13, LOC129998293 (G193E)	Single nucleotide variant (missense variant)	not provided +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 1709330	NM_003718.5(CDK13):c.607C>T (p.Arg203Cys)	CDK13, LOC129998293 (R203C)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1700077	NM_003718.5(CDK13):c.3209C>T (p.Ser1070Phe)	CDK13 (S1070F)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
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 1690624	NM_003718.5(CDK13):c.571G>A (p.Gly191Arg)	CDK13, LOC129998293 (G191R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1679761	NM_003718.5(CDK13):c.4249A>G (p.Met1417Val)	CDK13 (M1357V +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1366573	NM_003718.5(CDK13):c.370C>T (p.Pro124Ser)	CDK13, LOC129998292 (P124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1354802	NM_003718.5(CDK13):c.481G>T (p.Gly161Trp)	CDK13, LOC129998292 (G161W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1353111	NM_003718.5(CDK13):c.607C>G (p.Arg203Gly)	CDK13, LOC129998293 (R203G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342571	NM_003718.5(CDK13):c.4008G>C (p.Lys1336Asn)	CDK13 (K1276N +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1340634	GRCh37/hg19 7p14.1(chr7:40025231-40097935)x1	CDK13	Copy number loss	not provided	GUncertain significance
Select item 1339780	GRCh37/hg19 7p14.1(chr7:40026937-40170245)x3	CDK13	Copy number gain	not provided	Gnot provided
Select item 1325613	NM_003718.5(CDK13):c.1401_1418dup (p.Ala471_Ala476dup)	CDK13	Duplication (inframe_insertion)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1324037	NM_003718.5(CDK13):c.2427del (p.Phe809fs)	CDK13 (F809fs)	Deletion (frameshift variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1299671	NM_003718.5(CDK13):c.839G>C (p.Arg280Pro)	CDK13 (R280P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1299670	NM_003718.5(CDK13):c.838C>T (p.Arg280Cys)	CDK13 (R280C)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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