ClinVar for Gene (Select 728642) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141466	NM_024011.4(CDK11A):c.462G>T (p.Met154Ile)	CDK11A (M154I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141465	NM_024011.4(CDK11A):c.391C>T (p.Arg131Cys)	CDK11A (R131C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141464	NM_024011.4(CDK11A):c.359A>C (p.Lys120Thr)	CDK11A (K110T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141463	NM_024011.4(CDK11A):c.302A>G (p.Lys101Arg)	CDK11A (K101R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141462	NM_024011.4(CDK11A):c.2046C>G (p.Phe682Leu)	CDK11A (F682L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141461	NM_024011.4(CDK11A):c.2021G>C (p.Gly674Ala)	CDK11A (G673A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141459	NM_024011.4(CDK11A):c.2014C>T (p.Arg672Cys)	CDK11A (R675C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141458	NM_024011.4(CDK11A):c.2008C>T (p.Arg670Cys)	CDK11A (R669C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141457	NM_024011.4(CDK11A):c.1853C>T (p.Thr618Ile)	CDK11A (T621I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141456	NM_024011.4(CDK11A):c.1818G>C (p.Met606Ile)	CDK11A (M605I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141454	NM_024011.4(CDK11A):c.1518C>A (p.His506Gln)	CDK11A (H496Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141453	NM_024011.4(CDK11A):c.1433A>G (p.Gln478Arg)	CDK11A (Q468R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141452	NM_024011.4(CDK11A):c.133C>T (p.Arg45Trp)	CDK11A (R45W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141451	NM_024011.4(CDK11A):c.1258G>A (p.Val420Ile)	CDK11A (V420I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141449	NM_024011.4(CDK11A):c.1087G>A (p.Asp363Asn)	CDK11A (D353N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141448	NM_024011.4(CDK11A):c.1007A>T (p.Glu336Val)	CDK11A (E326V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685791	GRCh37/hg19 1p36.33(chr1:1616990-1890118)x3	CALML6, CDK11A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2640261	GRCh37/hg19 1p36.33(chr1:1569581-2005714)x1	CALML6, CDK11A +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 2638058	NM_024011.4(CDK11A):c.588G>C (p.Ala196=)	CDK11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638057	NM_024011.4(CDK11A):c.1671C>T (p.His557=)	CDK11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638056	NM_024011.4(CDK11A):c.1695T>C (p.Asp565=)	CDK11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638055	NM_024011.4(CDK11A):c.1698T>C (p.Phe566=)	CDK11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638054	NM_024011.4(CDK11A):c.1757A>T (p.Gln586Leu)	CDK11A (Q576L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2638053	NM_024011.4(CDK11A):c.2047G>A (p.Asp683Asn)	CDK11A (D673N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2638052	NM_024011.4(CDK11A):c.2049C>T (p.Asp683=)	CDK11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2554715	NM_024011.4(CDK11A):c.1765C>T (p.Arg589Cys)	CDK11A (R588C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533849	NM_024011.4(CDK11A):c.1139C>G (p.Thr380Arg)	CDK11A (T380R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524988	NM_024011.4(CDK11A):c.1709G>A (p.Arg570Gln)	CDK11A (R569Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520986	NM_024011.4(CDK11A):c.1471G>A (p.Gly491Ser)	CDK11A (G481S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514977	NM_024011.4(CDK11A):c.1381G>A (p.Glu461Lys)	CDK11A (E451K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2494183	NM_024011.4(CDK11A):c.587C>T (p.Ala196Val)	CDK11A (A195V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492486	NM_024011.4(CDK11A):c.59A>T (p.Lys20Met)	CDK11A (K20M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479461	NM_024011.4(CDK11A):c.65G>A (p.Arg22Gln)	CDK11A (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479151	NM_024011.4(CDK11A):c.1637G>A (p.Arg546His)	CDK11A (R536H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469375	NM_024011.4(CDK11A):c.2015G>A (p.Arg672His)	CDK11A (R675H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468748	NM_024011.4(CDK11A):c.1700G>A (p.Gly567Glu)	CDK11A (G557E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411279	NM_024011.4(CDK11A):c.1358G>A (p.Arg453Gln)	CDK11A (R453Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406348	NM_024011.4(CDK11A):c.1453G>A (p.Val485Ile)	CDK11A (V484I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374706	NM_024011.4(CDK11A):c.1463T>C (p.Ile488Thr)	CDK11A (I488T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365856	NM_024011.4(CDK11A):c.150G>C (p.Glu50Asp)	CDK11A (E50D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355537	NM_024011.4(CDK11A):c.583C>T (p.Arg195Trp)	CDK11A (R194W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354148	NM_024011.4(CDK11A):c.1252C>T (p.Arg418Trp)	CDK11A (R417W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343257	NM_024011.4(CDK11A):c.1033G>A (p.Asp345Asn)	CDK11A (D344N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337185	NM_024011.4(CDK11A):c.1771C>G (p.Pro591Ala)	CDK11A (P594A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325513	NM_024011.4(CDK11A):c.121C>T (p.Arg41Trp)	CDK11A (R41W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306683	NM_024011.4(CDK11A):c.539G>A (p.Arg180Gln)	CDK11A (R179Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305145	NM_024011.4(CDK11A):c.1182C>G (p.Asp394Glu)	CDK11A (D394E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286784	NM_024011.4(CDK11A):c.546G>C (p.Gln182His)	CDK11A (Q172H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276715	NM_024011.4(CDK11A):c.1205A>G (p.Glu402Gly)	CDK11A (E392G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251824	NM_024011.4(CDK11A):c.1768G>A (p.Ala590Thr)	CDK11A (A580T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227540	NM_024011.4(CDK11A):c.1721C>A (p.Ser574Tyr)	CDK11A (S574Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222263	NM_024011.4(CDK11A):c.1174G>A (p.Val392Met)	CDK11A (V391M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212067	NM_024011.4(CDK11A):c.122G>A (p.Arg41Gln)	CDK11A (R41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206824	NM_024011.4(CDK11A):c.1618G>A (p.Asp540Asn)	CDK11A (D543N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810316	NM_024011.4(CDK11A):c.1927del (p.Ser643fs)	CDK11A (S633fs +3 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 1809089	GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	ACAP3, ANKRD65 +43 more	Copy number gain	not provided	GUncertain significance
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807780	GRCh37/hg19 1p36.33-36.32(chr1:1335011-2302755)x1	ANKRD65, ATAD3A +24 more	Copy number loss	not provided	GPathogenic
Select item 1807723	GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	ACAP3, ACTRT2 +63 more	Copy number loss	not provided	GPathogenic
Select item 1706500	GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	ACAP3, AGRN +60 more	Copy number loss	See cases	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703628	GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	ACAP3, ACTRT2 +76 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1511801	NC_000001.10:g.(?_1550840)_(1724770_?)dup	CDK11A, CDK11B +6 more	Duplication	not provided	GUncertain significance
Select item 1449306	NC_000001.10:g.(?_989123)_(3160711_?)del	UBE2J2, VWA1 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1443760	NC_000001.10:g.(?_955553)_(3350375_?)del	ACAP3, ACTRT2 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	AGRN, MIB2 +74 more	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341246	GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	ACAP3, AGRN +62 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 988904	GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	TMEM88B, TNFRSF18 +45 more	Copy number loss	not provided	GPathogenic
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 980936	GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	ATAD3B, ATAD3C +49 more	Copy number loss	not provided	GPathogenic
Select item 980935	GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	ACAP3, AGRN +50 more	Copy number loss	not provided	GPathogenic
Select item 980934	GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	ACAP3, AGRN +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 915402	NM_024011.4(CDK11A):c.740G>A (p.Arg247Gln)	CDK11A (R237Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	ACAP3, ACTRT2 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 832780	NC_000001.10:g.(?_955543)_(2238214_?)del	C1orf159, ANKRD65 +46 more	Deletion	Congenital myasthenic syndrome 8	GPathogenic
Select item 816486	GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	ACAP3, ACTRT2 +66 more	Copy number gain	See cases	GPathogenic
Select item 814048	GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814047	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814046	GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	ACAP3, ACTRT2 +78 more	Copy number loss	not provided	GPathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 814044	GRCh37/hg19 1p36.33(chr1:849466-1649932)x1	TAS1R3, ATAD3A +42 more	Copy number loss	not provided	GUncertain significance
Select item 685974	GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	CFAP74, TNFRSF4 +50 more	Copy number gain	not provided	GUncertain significance
Select item 659614	NC_000001.10:g.(?_955543)_(2957600_?)del	ANKRD65, ATAD3A +57 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance

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