"GeneDx"[submitter] AND "CDK13"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3367868	NM_003718.5(CDK13):c.32dup (p.Gly12fs)	CDK13 (G12fs)	Duplication (frameshift 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 3368303	NM_003718.5(CDK13):c.58A>T (p.Lys20Ter)	CDK13 (K20*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 3252816	NM_003718.5(CDK13):c.169C>G (p.Pro57Ala)	CDK13 (P57A)	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 1800614	NM_003718.5(CDK13):c.224C>T (p.Ala75Val)	CDK13, LOC129998292 (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2429585	NM_003718.5(CDK13):c.331G>C (p.Ala111Pro)	CDK13, LOC129998292 (A111P)	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 523961	NM_003718.5(CDK13):c.425dup (p.Leu143fs)	CDK13, LOC129998292 (L143fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 2633047	NM_003718.5(CDK13):c.476dup (p.Ala162fs)	CDK13, LOC129998292 (A162fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504021	NM_003718.5(CDK13):c.484dup (p.Ala162fs)	CDK13, LOC129998292 (A162fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2571865	NM_003718.5(CDK13):c.490G>A (p.Ala164Thr)	CDK13 (A164T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885863	NM_003718.5(CDK13):c.505A>G (p.Thr169Ala)	CDK13 (T169A)	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 1700945	NM_003718.5(CDK13):c.536G>A (p.Gly179Glu)	CDK13 (G179E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442739	NM_003718.5(CDK13):c.547TCC[2] (p.Ser185del)	CDK13 (S185del)	Microsatellite (inframe_deletion)	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 2581753	NM_003718.5(CDK13):c.629A>G (p.Lys210Arg)	CDK13 (K210R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578216	NM_003718.5(CDK13):c.665_666delinsGGCGGGATGGGCAT (p.Gln222delinsArgArgAspGlyHis)	CDK13	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1313967	NM_003718.5(CDK13):c.707_715delinsTCCACAGCA (p.Ser236_Gly239delinsIleHisSerSer)	CDK13	Indel (missense variant)	not provided	GUncertain significance
Select item 2573935	NM_003718.5(CDK13):c.789_798del (p.Thr264fs)	CDK13 (T264fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1304594	NM_003718.5(CDK13):c.815A>G (p.Lys272Arg)	CDK13 (K272R)	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 1312067	NM_003718.5(CDK13):c.1021_1028dup (p.Ala344fs)	CDK13 (A344fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1706223	NM_003718.5(CDK13):c.1025G>A (p.Ser342Asn)	CDK13 (S342N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503994	NM_003718.5(CDK13):c.1152del (p.Ser385fs)	CDK13 (S385fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2575771	NM_003718.5(CDK13):c.1187G>T (p.Arg396Leu)	CDK13 (R396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290346	NM_003718.5(CDK13):c.1211+222G>A	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 152087	GRCh38/hg38 7p14.1(chr7:39968852-40055511)x3	CDK13, LOC129998294	Copy number gain	See cases	GLikely benign
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 1710602	NM_003718.5(CDK13):c.1375G>T (p.Ala459Ser)	CDK13 (A459S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695454	NM_003718.5(CDK13):c.1389_1424del (p.Ala465_Ala476del)	CDK13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2503243	NM_003718.5(CDK13):c.1394C>G (p.Ala465Gly)	CDK13 (A465G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707833	NM_003718.5(CDK13):c.1399G>A (p.Ala467Thr)	CDK13 (A467T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662043	NM_003718.5(CDK13):c.1427C>T (p.Ala476Val)	CDK13 (A476V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182123	NM_003718.5(CDK13):c.1498A>G (p.Thr500Ala)	CDK13 (T500A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1313611	NM_003718.5(CDK13):c.1532A>T (p.His511Leu)	CDK13 (H511L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313917	NM_003718.5(CDK13):c.1619A>G (p.Lys540Arg)	CDK13 (K540R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307150	NM_003718.5(CDK13):c.1721A>G (p.Lys574Arg)	CDK13 (K574R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413040	NM_003718.5(CDK13):c.1730C>A (p.Ser577Ter)	CDK13 (S577*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342692	NM_003718.5(CDK13):c.1830dup (p.Pro611fs)	CDK13 (P611fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1710847	NM_003718.5(CDK13):c.1858_1860del (p.Lys620del)	CDK13 (K620del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2136056	NM_003718.5(CDK13):c.1867G>A (p.Asp623Asn)	CDK13 (D623N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296150	NM_003718.5(CDK13):c.1871+215G>A	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430289	NM_003718.5(CDK13):c.1872-3C>G	CDK13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2501339	NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)	CDK13 (K636del)	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1712635	NM_003718.5(CDK13):c.1943A>G (p.Asp648Gly)	CDK13 (D648G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502539	NM_003718.5(CDK13):c.1981C>G (p.Leu661Val)	CDK13 (L661V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277704	NM_003718.5(CDK13):c.2043-253T>C	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249774	NM_003718.5(CDK13):c.2043-210A>C	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507215	NM_003718.5(CDK13):c.2056C>T (p.Arg686Cys)	CDK13 (R686C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506768	NM_003718.5(CDK13):c.2141G>T (p.Gly714Val)	CDK13 (G714V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 449224	NM_003718.5(CDK13):c.2141G>A (p.Gly714Asp)	CDK13 (G714D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3368867	NM_003718.5(CDK13):c.2148C>G (p.Tyr716Ter)	CDK13 (Y716*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1312274	NM_003718.5(CDK13):c.2171A>G (p.Asp724Gly)	CDK13 (D724G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288032	NM_003718.5(CDK13):c.2182+146A>G	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258440	NM_003718.5(CDK13):c.2183-289T>G	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
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 423480	NM_003718.5(CDK13):c.2209C>T (p.Arg737Cys)	CDK13 (R737C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 +1 more	GConflicting classifications of pathogenicity
Select item 2503303	NM_003718.5(CDK13):c.2314A>T (p.Thr772Ser)	CDK13 (T772S)	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 1311110	NM_003718.5(CDK13):c.2347G>C (p.Asp783His)	CDK13 (D783H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236600	NM_003718.5(CDK13):c.2353+172G>A	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276035	NM_003718.5(CDK13):c.2354-235A>T	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313700	NM_003718.5(CDK13):c.2354-7_2354-2del	CDK13	Deletion (splice acceptor variant)	not provided	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 522794	NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)	CDK13 (N842D)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GPathogenic/Likely pathogenic
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 1296153	NM_003718.5(CDK13):c.2543+141C>T	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296130	NM_003718.5(CDK13):c.2543+217A>G	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663310	NM_003718.5(CDK13):c.2549A>G (p.Gln850Arg)	CDK13 (Q850R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 more	GPathogenic/Likely pathogenic
Select item 1303504	NM_003718.5(CDK13):c.2572C>G (p.Leu858Val)	CDK13 (L858V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1695841	NM_003718.5(CDK13):c.2579G>A (p.Arg860Gln)	CDK13 (R860Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1296149	NM_003718.5(CDK13):c.2600+276A>G	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308067	NM_003718.5(CDK13):c.2602C>T (p.Arg868Trp)	CDK13 (R868W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 +1 more	GConflicting classifications of pathogenicity
Select item 450322	NM_003718.5(CDK13):c.2626A>G (p.Thr876Ala)	CDK13 (T876A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2575799	NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)	CDK13 (R890*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343899	NM_003718.5(CDK13):c.2703-13T>A	CDK13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1266599	NM_003718.5(CDK13):c.2781-240A>G	CDK13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304302	NM_003718.5(CDK13):c.2803C>A (p.Pro935Thr)	CDK13 (P935T)	Single nucleotide variant (missense 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 504105	NM_003718.5(CDK13):c.2866dup (p.Tyr956fs)	CDK13 (Y956fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1809961	NM_003718.5(CDK13):c.2880_2881del (p.Glu962fs)	CDK13 (E962fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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