ClinVar for Gene (Select 1020) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3718030	NM_004935.4(CDK5):c.342G>A (p.Leu114=)	CDK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3708745	NM_004935.4(CDK5):c.141C>T (p.Ser47=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3673668	NM_004935.4(CDK5):c.42C>T (p.Thr14=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3670461	NM_004935.4(CDK5):c.150G>T (p.Arg50=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3648489	NM_004935.4(CDK5):c.615C>G (p.Gly205=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3640628	NM_004935.4(CDK5):c.357C>T (p.Ser119=)	CDK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3633003	NM_004935.4(CDK5):c.750C>T (p.Asn250=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3632550	NM_004935.4(CDK5):c.135G>A (p.Pro45=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3620127	NM_004935.4(CDK5):c.712-11C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3619262	NM_004935.4(CDK5):c.780G>A (p.Arg260=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3612605	NM_004935.4(CDK5):c.484-13G>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3489507	NM_004935.4(CDK5):c.29T>C (p.Ile10Thr)	CDK5 (I10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391899	GRCh37/hg19 7q35-36.3(chr7:147773827-159119707)x1	ABCB8, ABCF2 +80 more	Copy number loss	not provided	GPathogenic
Select item 3391847	GRCh37/hg19 7q34-36.3(chr7:142491993-159119707)x3	ZNF862, ZYX +121 more	Copy number gain	not provided	GPathogenic
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3141552	NM_004935.4(CDK5):c.358C>T (p.Arg120Cys)	CDK5 (R120C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 3047550	NM_004935.4(CDK5):c.837G>A (p.Glu279=)	CDK5	Single nucleotide variant (synonymous variant)	CDK5-related disorder	GLikely benign
Select item 3037340	NM_004935.4(CDK5):c.*5C>T	CDK5	Single nucleotide variant (3 prime UTR variant)	CDK5-related disorder	GBenign
Select item 3037083	NM_004935.4(CDK5):c.216C>T (p.Ser72=)	CDK5	Single nucleotide variant (synonymous variant)	CDK5-related disorder	GLikely benign
Select item 3016493	NM_004935.4(CDK5):c.669C>G (p.Thr223=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990113	NM_004935.4(CDK5):c.484-19C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956776	NM_004935.4(CDK5):c.194+12G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2898554	NM_004935.4(CDK5):c.75G>A (p.Glu25=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890666	NM_004935.4(CDK5):c.462C>T (p.Pro154=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875016	NM_004935.4(CDK5):c.580+14G>C	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874539	NM_004935.4(CDK5):c.78T>C (p.Thr26=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766252	NM_004935.4(CDK5):c.312+3G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2755146	NM_004935.4(CDK5):c.651-18C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	ABCB8, ABCF2 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	SMARCD3, TAS2R39 +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	DGKI, DNAJB6 +169 more	Copy number loss	not provided	GPathogenic
Select item 2683824	NM_004935.4(CDK5):c.149G>A (p.Arg50Gln)	CDK5 (R50Q)	Single nucleotide variant (missense variant)	Lissencephaly 7 with cerebellar hypoplasia	GUncertain significance
Select item 2602938	NM_004935.4(CDK5):c.359G>A (p.Arg120His)	CDK5 (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	ABCB8, ABCF2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC113687199, LOC126860237 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	LOC123956279, LOC129389918 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2387867	NM_004935.4(CDK5):c.362A>G (p.Asn121Ser)	CDK5 (N121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317481	NM_004935.4(CDK5):c.542C>T (p.Thr181Met)	CDK5 (T181M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282224	NM_004935.4(CDK5):c.413G>C (p.Gly138Ala)	CDK5 (G106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2173573	NM_004935.4(CDK5):c.255+10G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2164337	NM_004935.4(CDK5):c.719C>T (p.Pro240Leu)	CDK5 (P240L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087387	NM_004935.4(CDK5):c.256-17C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085327	NM_004935.4(CDK5):c.688A>G (p.Met230Val)	CDK5 (M198V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2084412	NM_004935.4(CDK5):c.729G>A (p.Pro243=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075260	NM_004935.4(CDK5):c.711+8G>T	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2043649	NM_004935.4(CDK5):c.483+8A>G	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992448	NM_004935.4(CDK5):c.37+4A>G	CDK5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1991822	NM_004935.4(CDK5):c.581-15_581-14del	CDK5	Deletion (intron variant)	not provided	GBenign
Select item 1988580	NM_004935.4(CDK5):c.484-11del	CDK5	Deletion (intron variant)	not provided	GBenign
Select item 1980135	NM_004935.4(CDK5):c.276C>T (p.Asp92=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962753	NM_004935.4(CDK5):c.312+13G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958443	NM_004935.4(CDK5):c.270T>C (p.Tyr90=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933455	NM_004935.4(CDK5):c.38-17T>C	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932894	NM_004935.4(CDK5):c.581-15C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919596	NM_004935.4(CDK5):c.312+9A>G	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911921	NM_004935.4(CDK5):c.393C>T (p.Asn131=)	CDK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910116	NM_004935.4(CDK5):c.792+20G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900785	NM_004935.4(CDK5):c.650+14C>A	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AP1S1, AP4M1 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	EPDR1, EPHA1 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1645066	NM_004935.4(CDK5):c.484-11dup	CDK5	Duplication (intron variant)	not provided	GBenign
Select item 1624945	NM_004935.4(CDK5):c.669C>T (p.Thr223=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622669	NM_004935.4(CDK5):c.285T>C (p.Asn95=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617851	NM_004935.4(CDK5):c.313-15C>G	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609373	NM_004935.4(CDK5):c.408+20T>C	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600506	NM_004935.4(CDK5):c.483+11A>C	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1565175	NM_004935.4(CDK5):c.483+16G>A	CDK5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1361450	NM_004935.4(CDK5):c.754G>A (p.Val252Met)	CDK5 (V220M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	CHPF2, CNPY1 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCB8, ABCF2 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ABCB8, ABCF2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	WDR86, ZNF777 +72 more	Copy number loss	not provided	GPathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic
Select item 1068862	NC_000007.13:g.(?_150642443)_(151385353_?)del	RHEB, SLC4A2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	RHEB, SLC4A2 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	GALNTL5, OR2F2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830893	NC_000007.13:g.(?_150066801)_(150759750_?)del	ABCB8, AOC1 +17 more	Deletion	Long QT syndrome	GPathogenic
Select item 830594	NC_000007.13:g.(?_150642443)_(151385353_?)dup	RHEB, SLC4A2 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	GIMAP2, OR2A12 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	ABCB8, ABCF2 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	AASS, ABCB8 +295 more	Copy number gain	not provided	GPathogenic
Select item 799770	NM_004935.4(CDK5):c.828A>C (p.Ser276=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764941	NM_004935.4(CDK5):c.549C>T (p.Ile183=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757638	NM_004935.4(CDK5):c.651-10C>T	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745597	NM_004935.4(CDK5):c.612C>T (p.Pro204=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736427	NM_004935.4(CDK5):c.753C>T (p.Val251=)	CDK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731171	NM_004935.4(CDK5):c.408+9T>C	CDK5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	ABCB8, ABCF2 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	not provided	GPathogenic
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance

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