ClinVar for MedGen (Select 1385307) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2505084	NM_003718.5(CDK13):c.2957G>A (p.Arg986His)	CDK13 (R986H)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	Gnot provided
Select item 2500915	NM_003718.5(CDK13):c.1630C>T (p.Gln544Ter)	CDK13 (Q544*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 2444330	NM_003718.5(CDK13):c.2719C>T (p.Leu907Phe)	CDK13 (L907F)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2442379	NM_003718.5(CDK13):c.2507G>T (p.Arg836Ile)	CDK13 (R836I)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
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 2441685	NM_003718.5(CDK13):c.909C>G (p.Asp303Glu)	CDK13 (D303E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2439874	NM_003718.5(CDK13):c.1301G>A (p.Arg434His)	CDK13 (R434H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2439871	NM_003718.5(CDK13):c.1856A>T (p.Asp619Val)	CDK13 (D619V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	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 2439869	NM_003718.5(CDK13):c.850A>G (p.Lys284Glu)	CDK13 (K284E)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	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 2171021	NM_003718.5(CDK13):c.482G>T (p.Gly161Val)	CDK13, LOC129998292 (G161V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 1806072	NM_003718.5(CDK13):c.3686C>T (p.Ser1229Leu)	CDK13 (S1169L +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1805945	NM_003718.5(CDK13):c.1768A>G (p.Ser590Gly)	CDK13 (S590G)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1802585	NM_003718.5(CDK13):c.2506A>G (p.Arg836Gly)	CDK13 (R836G)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
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 1709483	NM_003718.5(CDK13):c.2525A>T (p.Asn842Ile)	CDK13 (N842I)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	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 1706567	NM_003718.5(CDK13):c.900C>G (p.Tyr300Ter)	CDK13 (Y300*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1699212	NM_003718.5(CDK13):c.3261A>T (p.Leu1087Phe)	CDK13 (L1087F)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	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 1695189	NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter)	CDK13 (R860*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1691565	NM_003718.5(CDK13):c.2609A>G (p.Tyr870Cys)	CDK13 (Y870C)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1685259	NM_003718.5(CDK13):c.2563G>C (p.Asp855His)	CDK13 (D855H)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
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 1679310	NM_003718.5(CDK13):c.2563G>T (p.Asp855Tyr)	CDK13 (D855Y)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1656383	NM_003718.5(CDK13):c.1347G>T (p.Leu449=)	CDK13	Single nucleotide variant (synonymous variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GLikely benign
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 1339033	NM_003718.5(CDK13):c.2563G>A (p.Asp855Asn)	CDK13 (D855N)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1335667	NM_003718.5(CDK13):c.3737C>T (p.Thr1246Met)	CDK13 (T1186M +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1335666	NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala)	CDK13 (T871A)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1333910	NM_003718.5(CDK13):c.2510A>T (p.Asp837Val)	CDK13 (D837V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1333908	NM_003718.5(CDK13):c.1093C>T (p.Arg365Cys)	CDK13 (R365C)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1325853	NM_003718.5(CDK13):c.2603G>A (p.Arg868Gln)	CDK13 (R868Q)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GConflicting classifications of pathogenicity
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 1302013	NM_003718.5(CDK13):c.2322_2325del (p.Glu775fs)	CDK13 (E775fs)	Deletion (frameshift variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1299398	NM_003718.5(CDK13):c.[838C>T;839G>C]	CDK13 (R280C +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1285556	NM_003718.5(CDK13):c.2797C>G (p.Pro933Ala)	CDK13 (P933A)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1215514	NM_003718.5(CDK13):c.454C>T (p.Gln152Ter)	CDK13, LOC129998292 (Q152*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1164023	NM_003718.5(CDK13):c.2201A>C (p.Lys734Thr)	CDK13 (K734T)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GPathogenic
Select item 1098419	NM_003718.5(CDK13):c.2510A>G (p.Asp837Gly)	CDK13 (D837G)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 1033605	NM_003718.5(CDK13):c.796A>G (p.Ser266Gly)	CDK13 (S266G)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 1030697	NM_003718.5(CDK13):c.1526C>G (p.Thr509Arg)	CDK13 (T509R)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028151	NM_003718.5(CDK13):c.875C>T (p.Ala292Val)	CDK13 (A292V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028150	NM_003718.5(CDK13):c.521C>G (p.Thr174Arg)	CDK13 (T174R)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028149	NM_003718.5(CDK13):c.4403A>G (p.Glu1468Gly)	CDK13 (E1408G +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 1028148	NM_003718.5(CDK13):c.4081C>G (p.Pro1361Ala)	CDK13 (P1301A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028147	NM_003718.5(CDK13):c.3481C>G (p.Pro1161Ala)	CDK13 (P1161A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028146	NM_003718.5(CDK13):c.3190C>T (p.Pro1064Ser)	CDK13 (P1064S)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028145	NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)	CDK13 (R751*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GConflicting classifications of pathogenicity
Select item 1028144	NM_003718.5(CDK13):c.1583G>C (p.Ser528Thr)	CDK13 (S528T)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 976738	NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	CDK13 (R880C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 973023	NM_003718.5(CDK13):c.2511T>G (p.Asp837Glu)	CDK13 (D837E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932285	NM_003718.5(CDK13):c.2898-1G>A	CDK13	Single nucleotide variant (splice acceptor variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	Gnot provided
Select item 932284	NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg)	CDK13 (K734R)	Single nucleotide variant (missense variant)	CDK13-related disorder	GPathogenic
Select item 931782	NM_003718.5(CDK13):c.509C>T (p.Ala170Val)	CDK13 (A170V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 827814	NM_003718.5(CDK13):c.2194G>A (p.Ala732Thr)	CDK13 (A732T)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 800796	NM_003718.5(CDK13):c.806del (p.Ser269fs)	CDK13 (S269fs)	Deletion (frameshift variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 788670	NM_003718.5(CDK13):c.2180C>T (p.Thr727Ile)	CDK13 (T727I)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GBenign/Likely benign
Select item 730686	NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser)	CDK13 (G1319S +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GLikely benign
Select item 720798	NM_003718.5(CDK13):c.1207C>T (p.Leu403Phe)	CDK13 (L403F)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GBenign/Likely benign
Select item 709063	NM_003718.5(CDK13):c.3271G>A (p.Glu1091Lys)	CDK13 (E1091K)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 689751	NM_003718.5(CDK13):c.2570G>A (p.Gly857Glu)	CDK13 (G857E)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 625525	NM_003718.5(CDK13):c.2246C>A (p.Ala749Glu)	CDK13 (A749E)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 545696	NM_003718.5(CDK13):c.4097G>A (p.Arg1366His)	CDK13 (R1366H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 522794	NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)	CDK13 (N842D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 521173	NM_003718.5(CDK13):c.181del (p.Leu61fs)	CDK13 (L61fs)	Deletion (frameshift variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 504021	NM_003718.5(CDK13):c.484dup (p.Ala162fs)	CDK13, LOC129998292 (A162fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488422	NM_003718.5(CDK13):c.2620G>T (p.Val874Leu)	CDK13	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GPathogenic
Select item 423480	NM_003718.5(CDK13):c.2209C>T (p.Arg737Cys)	CDK13 (R737C)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GPathogenic
Select item 422362	NM_003718.5(CDK13):c.2200A>G (p.Lys734Glu)	CDK13 (K734E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 375739	NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln)	CDK13 (R751Q)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 375738	NM_003718.5(CDK13):c.2140G>C (p.Gly714Arg)	CDK13 (G714R)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GPathogenic
Select item 375737	NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	CDK13 (G717R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 235887	NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)	CDK13 (N842S)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +4 more	GPathogenic/Likely pathogenic

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Items: 86