"Ambry Genetics"[submitter] AND "CDK13"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 521173	NM_003718.5(CDK13):c.181del (p.Leu61fs)	CDK13 (L61fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 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 521529	NM_003718.5(CDK13):c.478G>C (p.Gly160Arg)	CDK13, LOC129998292 (G160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2065236	NM_003718.5(CDK13):c.485C>G (p.Ala162Gly)	CDK13 (A162G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931782	NM_003718.5(CDK13):c.509C>T (p.Ala170Val)	CDK13 (A170V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2140155	NM_003718.5(CDK13):c.521C>T (p.Thr174Met)	CDK13 (T174M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2394644	NM_003718.5(CDK13):c.545C>T (p.Ala182Val)	CDK13 (A182V)	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 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 2385975	NM_003718.5(CDK13):c.592_600del (p.Pro198_Arg200del)	CDK13, LOC129998293	Deletion (inframe_deletion)	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 2477108	NM_003718.5(CDK13):c.622C>A (p.Arg208Ser)	CDK13 (R208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349856	NM_003718.5(CDK13):c.645G>T (p.Glu215Asp)	CDK13 (E215D)	Single nucleotide variant (missense variant)	CDK13-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2902812	NM_003718.5(CDK13):c.668G>C (p.Arg223Pro)	CDK13 (R223P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1985678	NM_003718.5(CDK13):c.730G>A (p.Glu244Lys)	CDK13 (E244K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2167020	NM_003718.5(CDK13):c.745_750dup (p.Ser250_Ser251insGlySer)	CDK13	Duplication (inframe_insertion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2615174	NM_003718.5(CDK13):c.758G>A (p.Ser253Asn)	CDK13 (S253N)	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 2603588	NM_003718.5(CDK13):c.827C>T (p.Ser276Leu)	CDK13 (S276L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2173867	NM_003718.5(CDK13):c.832G>A (p.Ala278Thr)	CDK13 (A278T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2299397	NM_003718.5(CDK13):c.878A>G (p.Tyr293Cys)	CDK13 (Y293C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520825	NM_003718.5(CDK13):c.901del (p.Arg301fs)	CDK13 (R301fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2302722	NM_003718.5(CDK13):c.925G>A (p.Ala309Thr)	CDK13 (A309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2256443	NM_003718.5(CDK13):c.956T>G (p.Leu319Arg)	CDK13 (L319R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657400	NM_003718.5(CDK13):c.992C>T (p.Ala331Val)	CDK13 (A331V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986254	NM_003718.5(CDK13):c.1012C>T (p.Arg338Cys)	CDK13 (R338C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072422	NM_003718.5(CDK13):c.1028C>T (p.Pro343Leu)	CDK13 (P343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2303511	NM_003718.5(CDK13):c.1082C>A (p.Pro361His)	CDK13 (P361H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214932	NM_003718.5(CDK13):c.1090C>T (p.Arg364Cys)	CDK13 (R364C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2087888	NM_003718.5(CDK13):c.1156C>T (p.Pro386Ser)	CDK13 (P386S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2286572	NM_003718.5(CDK13):c.1163G>A (p.Ser388Asn)	CDK13 (S388N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208445	NM_003718.5(CDK13):c.1205T>C (p.Val402Ala)	CDK13 (V402A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2082981	NM_003718.5(CDK13):c.1213C>T (p.Arg405Trp)	CDK13 (R405W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2314381	NM_003718.5(CDK13):c.1228C>T (p.Arg410Ter)	CDK13 (R410*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 2439874	NM_003718.5(CDK13):c.1301G>A (p.Arg434His)	CDK13 (R434H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2622905	NM_003718.5(CDK13):c.1327C>G (p.Leu443Val)	CDK13 (L443V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2883311	NM_003718.5(CDK13):c.1349C>T (p.Ala450Val)	CDK13 (A450V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2048409	NM_003718.5(CDK13):c.1412C>T (p.Ala471Val)	CDK13 (A471V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 708927	NM_003718.5(CDK13):c.1459G>T (p.Ala487Ser)	CDK13 (A487S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 975511	NM_003718.5(CDK13):c.1462A>G (p.Lys488Glu)	CDK13 (K488E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2526052	NM_003718.5(CDK13):c.1471A>G (p.Asn491Asp)	CDK13 (N491D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265984	NM_003718.5(CDK13):c.1486A>G (p.Thr496Ala)	CDK13 (T496A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263225	NM_003718.5(CDK13):c.1499C>G (p.Thr500Arg)	CDK13 (T500R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515282	NM_003718.5(CDK13):c.1609G>A (p.Ala537Thr)	CDK13 (A537T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2398790	NM_003718.5(CDK13):c.1646A>G (p.Glu549Gly)	CDK13 (E549G)	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 2615951	NM_003718.5(CDK13):c.1754A>T (p.Lys585Ile)	CDK13 (K585I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173219	NM_003718.5(CDK13):c.1871+6T>C	CDK13	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2229377	NM_003718.5(CDK13):c.1930T>C (p.Cys644Arg)	CDK13 (C644R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474613	NM_003718.5(CDK13):c.1959del (p.Glu654fs)	CDK13 (E654fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1974724	NM_003718.5(CDK13):c.1980T>A (p.Asp660Glu)	CDK13 (D660E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2304619	NM_003718.5(CDK13):c.2008A>C (p.Thr670Pro)	CDK13 (T670P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476186	NM_003718.5(CDK13):c.2009C>T (p.Thr670Ile)	CDK13 (T670I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 760979	NM_003718.5(CDK13):c.2027G>A (p.Ser676Asn)	CDK13 (S676N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2323240	NM_003718.5(CDK13):c.2068A>G (p.Thr690Ala)	CDK13 (T690A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2054520	NM_003718.5(CDK13):c.2084T>C (p.Ile695Thr)	CDK13 (I695T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 375737	NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	CDK13 (G717R)	Single nucleotide variant (missense variant)	Autism spectrum disorder +3 more	GPathogenic
Select item 2611686	NM_003718.5(CDK13):c.2423A>G (p.His808Arg)	CDK13 (H808R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 235887	NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)	CDK13 (N842S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1695189	NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter)	CDK13 (R860*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 976738	NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	CDK13 (R880C)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GPathogenic/Likely pathogenic
Select item 521771	NM_003718.5(CDK13):c.2716G>A (p.Glu906Lys)	CDK13 (E906K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2253707	NM_003718.5(CDK13):c.2870G>A (p.Arg957His)	CDK13 (R957H)	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 2550950	NM_003718.5(CDK13):c.3058T>A (p.Leu1020Ile)	CDK13 (L1020I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461725	NM_003718.5(CDK13):c.3091A>T (p.Met1031Leu)	CDK13 (M1031L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975513	NM_003718.5(CDK13):c.3094G>A (p.Gly1032Ser)	CDK13 (G1032S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 736866	NM_003718.5(CDK13):c.3184G>A (p.Val1062Met)	CDK13 (V1062M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2483829	NM_003718.5(CDK13):c.3197C>T (p.Ser1066Leu)	CDK13 (S1066L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284919	NM_003718.5(CDK13):c.3289A>T (p.Asn1097Tyr)	CDK13 (N1097Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228982	NM_003718.5(CDK13):c.3313G>A (p.Val1105Ile)	CDK13 (V1105I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2530934	NM_003718.5(CDK13):c.3326A>G (p.Asp1109Gly)	CDK13 (D1109G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331766	NM_003718.5(CDK13):c.3375G>C (p.Gln1125His)	CDK13 (Q1125H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 718472	NM_003718.5(CDK13):c.3401G>T (p.Gly1134Val)	CDK13 (G1134V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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 2045784	NM_003718.5(CDK13):c.3680C>T (p.Pro1227Leu)	CDK13 (P1167L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2237490	NM_003718.5(CDK13):c.3812C>T (p.Thr1271Ile)	CDK13 (T1271I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2194472	NM_003718.5(CDK13):c.3847C>T (p.His1283Tyr)	CDK13 (H1223Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2274598	NM_003718.5(CDK13):c.3865T>A (p.Ser1289Thr)	CDK13 (S1289T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 730686	NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser)	CDK13 (G1319S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2175485	NM_003718.5(CDK13):c.3988G>C (p.Val1330Leu)	CDK13 (V1270L +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	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 2616684	NM_003718.5(CDK13):c.4039_4040delinsTT (p.Ala1347Phe)	CDK13 (A1287F +1 more)	Indel (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616350	NM_003718.5(CDK13):c.4039G>T (p.Ala1347Ser)	CDK13 (A1287S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616351	NM_003718.5(CDK13):c.4040C>T (p.Ala1347Val)	CDK13 (A1287V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229473	NM_003718.5(CDK13):c.4096C>T (p.Arg1366Cys)	CDK13 (R1306C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378566	NM_003718.5(CDK13):c.4108G>C (p.Gly1370Arg)	CDK13 (G1310R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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