ClinVar for Gene (Select 10256) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268139	NM_006314.3(CNKSR1):c.637C>G (p.His213Asp)	CNKSR1 (H213D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268138	NM_006314.3(CNKSR1):c.2086C>T (p.His696Tyr)	CNKSR1 (H703Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268137	NM_006314.3(CNKSR1):c.1907T>C (p.Val636Ala)	CNKSR1 (V378A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268136	NM_006314.3(CNKSR1):c.1564G>T (p.Asp522Tyr)	CNKSR1 (D522Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268135	NM_006314.3(CNKSR1):c.742G>A (p.Glu248Lys)	CNKSR1 (E248K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268134	NM_006314.3(CNKSR1):c.1247G>A (p.Arg416His)	CNKSR1 (R423H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146480	NM_006314.3(CNKSR1):c.775A>G (p.Met259Val)	CNKSR1 (M266V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3146478	NM_006314.3(CNKSR1):c.659A>G (p.His220Arg)	CNKSR1 (H220R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146477	NM_006314.3(CNKSR1):c.467T>G (p.Val156Gly)	CNKSR1 (V156G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146476	NM_006314.3(CNKSR1):c.2095C>T (p.Leu699Phe)	CNKSR1 (L441F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146475	NM_006314.3(CNKSR1):c.187G>A (p.Gly63Arg)	CNKSR1 (G63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146474	NM_006314.3(CNKSR1):c.1646C>T (p.Thr549Ile)	CNKSR1 (T549I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146473	NM_006314.3(CNKSR1):c.1343A>G (p.Asn448Ser)	CNKSR1 (N190S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044365	NM_006314.3(CNKSR1):c.1492C>T (p.Gln498Ter)	CNKSR1 (Q240* +2 more)	Single nucleotide variant (nonsense)	CNKSR1-related disorder	GLikely benign
Select item 2688797	NM_006314.3(CNKSR1):c.439C>T (p.Arg147Ter)	CNKSR1 (R147*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638508	NM_006314.3(CNKSR1):c.1692C>T (p.Asp564=)	CNKSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638507	NM_006314.3(CNKSR1):c.1691-2A>G	CNKSR1	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 2638506	NM_006314.3(CNKSR1):c.1520G>A (p.Arg507Gln)	CNKSR1 (R249Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638505	NM_006314.3(CNKSR1):c.1071A>G (p.Val357=)	CNKSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638504	NM_006314.3(CNKSR1):c.93G>A (p.Trp31Ter)	CNKSR1 (W31*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2556059	NM_006314.3(CNKSR1):c.766C>T (p.Arg256Cys)	CNKSR1 (R256C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553659	NM_006314.3(CNKSR1):c.29G>C (p.Gly10Ala)	CNKSR1 (G10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524007	NM_006314.3(CNKSR1):c.397C>T (p.Leu133Phe)	CNKSR1 (L133F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518518	NM_006314.3(CNKSR1):c.257T>C (p.Leu86Pro)	CNKSR1 (L86P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514142	NM_006314.3(CNKSR1):c.1231G>A (p.Gly411Ser)	CNKSR1 (G411S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513522	NM_006314.3(CNKSR1):c.1945C>G (p.Gln649Glu)	CNKSR1 (Q656E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2404416	NM_006314.3(CNKSR1):c.1258C>T (p.Arg420Cys)	CNKSR1 (R162C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381093	NM_006314.3(CNKSR1):c.1964G>A (p.Arg655Gln)	CNKSR1 (R397Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373672	NM_006314.3(CNKSR1):c.1514C>A (p.Pro505Gln)	CNKSR1 (P247Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362351	NM_006314.3(CNKSR1):c.1244C>A (p.Pro415Gln)	CNKSR1 (P157Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339802	NM_006314.3(CNKSR1):c.1658G>A (p.Arg553His)	CNKSR1 (R553H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339567	NM_006314.3(CNKSR1):c.1190C>T (p.Pro397Leu)	CNKSR1 (P139L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339135	NM_006314.3(CNKSR1):c.1262G>C (p.Trp421Ser)	CNKSR1 (W421S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335680	NM_006314.3(CNKSR1):c.1595G>A (p.Ser532Asn)	CNKSR1 (S539N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306041	NM_006314.3(CNKSR1):c.673G>C (p.Val225Leu)	CNKSR1 (V225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306024	NM_006314.3(CNKSR1):c.595C>T (p.Leu199Phe)	CNKSR1 (L199F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304466	NM_006314.3(CNKSR1):c.1040C>T (p.Pro347Leu)	CNKSR1 (P354L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300434	NM_006314.3(CNKSR1):c.1657C>T (p.Arg553Cys)	CNKSR1 (R553C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245441	NM_006314.3(CNKSR1):c.881C>T (p.Pro294Leu)	CNKSR1 (P301L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244516	NM_006314.3(CNKSR1):c.1546G>A (p.Glu516Lys)	CNKSR1 (E516K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232580	NM_006314.3(CNKSR1):c.37G>A (p.Ala13Thr)	CNKSR1 (A13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1805677	NM_006314.3(CNKSR1):c.503G>T (p.Gly168Val)	CNKSR1 (G168V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 790483	NM_006314.3(CNKSR1):c.2059C>T (p.His687Tyr)	CNKSR1 (H429Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790482	NM_006314.3(CNKSR1):c.1671C>T (p.Thr557=)	CNKSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790481	NM_006314.3(CNKSR1):c.1253G>A (p.Arg418His)	CNKSR1 (R425H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790480	NM_006314.3(CNKSR1):c.393-9C>T	CNKSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790479	NM_006314.3(CNKSR1):c.9G>A (p.Pro3=)	CNKSR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 786459	NM_006314.3(CNKSR1):c.1963C>T (p.Arg655Trp)	CNKSR1 (R655W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786458	NM_006314.3(CNKSR1):c.1454+10G>A	CNKSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785934	NM_006314.3(CNKSR1):c.1735C>A (p.Gln579Lys)	CNKSR1 (Q321K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782366	NM_006314.3(CNKSR1):c.237G>A (p.Leu79=)	CNKSR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778230	NM_006314.3(CNKSR1):c.1041G>A (p.Pro347=)	CNKSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 729658	NM_006314.3(CNKSR1):c.598G>A (p.Glu200Lys)	CNKSR1 (E200K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 725931	NM_006314.3(CNKSR1):c.851C>G (p.Pro284Arg)	CNKSR1 (P284R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 720985	NM_006314.3(CNKSR1):c.1438C>T (p.Leu480=)	CNKSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720984	NM_006314.3(CNKSR1):c.1421T>C (p.Ile474Thr)	CNKSR1 (I216T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720518	NM_006314.3(CNKSR1):c.1943G>A (p.Arg648His)	CNKSR1 (R390H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719606	NM_006314.3(CNKSR1):c.1844G>A (p.Arg615His)	CNKSR1 (R622H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715838	NM_006314.3(CNKSR1):c.81C>A (p.Pro27=)	CNKSR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 418139	NM_006314.3(CNKSR1):c.1462C>T (p.Arg488Cys)	CNKSR1 (R488C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252663	NM_006314.3(CNKSR1):c.851del (p.Pro284fs)	CNKSR1 (P26fs +2 more)	Deletion (frameshift variant)	not specified +2 more	GBenign
Select item 218682	NM_006314.3(CNKSR1):c.332T>A (p.Val111Asp)	CNKSR1 (V111D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70