ClinVar for Gene (Select 22866) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382012	NM_014927.5(CNKSR2):c.1394-13_1423del	CNKSR2	Deletion (splice acceptor variant)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 3377628	NM_014927.5(CNKSR2):c.1519A>T (p.Thr507Ser)	CNKSR2 (T428S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 3376274	NM_014927.5(CNKSR2):c.423G>A (p.Trp141Ter)	CNKSR2 (W141*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic
Select item 3375432	NM_014927.5(CNKSR2):c.1905-17T>G	CNKSR2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3372895	NM_014927.5(CNKSR2):c.41G>C (p.Ser14Thr)	CNKSR2 (S14T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371145	NM_014927.5(CNKSR2):c.503C>A (p.Thr168Lys)	CNKSR2 (T168K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370477	NM_014927.5(CNKSR2):c.1684C>T (p.Arg562Ter)	CNKSR2 (R483* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic
Select item 3370293	NM_014927.5(CNKSR2):c.573_576del (p.Ser192fs)	CNKSR2 (S192fs)	Deletion (frameshift variant)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic
Select item 3369077	NM_014927.5(CNKSR2):c.2809C>G (p.Leu937Val)	CNKSR2 (L858V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368417	NM_014927.5(CNKSR2):c.2077G>A (p.Asp693Asn)	CNKSR2 (D614N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367607	NM_014927.5(CNKSR2):c.2980C>T (p.Leu994Phe)	CNKSR2 (L915F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364789	NM_014927.5(CNKSR2):c.271A>C (p.Lys91Gln)	CNKSR2 (K91Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364472	NM_014927.5(CNKSR2):c.2531G>A (p.Ser844Asn)	CNKSR2 (S765N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361865	NM_014927.5(CNKSR2):c.1243T>C (p.Tyr415His)	CNKSR2 (Y366H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361637	NM_014927.5(CNKSR2):c.754C>T (p.Arg252Trp)	CNKSR2 (R252W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3360931	NM_014927.5(CNKSR2):c.1976+3A>T	CNKSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3360862	NM_014927.5(CNKSR2):c.764A>G (p.Lys255Arg)	CNKSR2 (K255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359798	NM_014927.5(CNKSR2):c.2840T>C (p.Val947Ala)	CNKSR2 (V868A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359701	NM_014927.5(CNKSR2):c.1006A>G (p.Thr336Ala)	CNKSR2 (T287A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359078	NM_014927.5(CNKSR2):c.1979G>A (p.Trp660Ter)	CNKSR2 (W581* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic
Select item 3351815	NM_014927.5(CNKSR2):c.2019A>G (p.Glu673=)	CNKSR2	Single nucleotide variant (synonymous variant)	CNKSR2-related disorder	GLikely benign
Select item 3347763	NM_014927.5(CNKSR2):c.1905-1G>A	CNKSR2	Single nucleotide variant (splice acceptor variant)	CNKSR2-related disorder	GLikely pathogenic
Select item 3343689	NM_014927.5(CNKSR2):c.1319T>C (p.Ile440Thr)	CNKSR2 (I391T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342874	NM_014927.5(CNKSR2):c.2777A>T (p.Glu926Val)	CNKSR2 (E847V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341078	NM_014927.5(CNKSR2):c.187C>T (p.Gln63Ter)	CNKSR2 (Q63*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic
Select item 3340931	NM_014927.5(CNKSR2):c.2693-43_2703del	CNKSR2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 3339747	NM_014927.5(CNKSR2):c.1809T>G (p.Leu603=)	CNKSR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3337921	NM_014927.5(CNKSR2):c.2198C>T (p.Thr733Met)	CNKSR2 (T654M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268145	NM_014927.5(CNKSR2):c.2275C>G (p.Arg759Gly)	CNKSR2 (R680G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268144	NM_014927.5(CNKSR2):c.1274A>G (p.Gln425Arg)	CNKSR2 (Q376R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268142	NM_014927.5(CNKSR2):c.2975T>G (p.Met992Arg)	CNKSR2 (M992R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268141	NM_014927.5(CNKSR2):c.3070G>C (p.Ala1024Pro)	CNKSR2 (A945P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268140	NM_014927.5(CNKSR2):c.2155G>A (p.Ala719Thr)	CNKSR2 (A719T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3253504	NM_014927.5(CNKSR2):c.196A>G (p.Ile66Val)	CNKSR2 (I66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235754	NM_014927.5(CNKSR2):c.2935C>G (p.Pro979Ala)	CNKSR2 (P900A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233545	NM_014927.5(CNKSR2):c.477T>C (p.Asn159=)	CNKSR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3146490	NM_014927.5(CNKSR2):c.959C>T (p.Pro320Leu)	CNKSR2 (P320L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146489	NM_014927.5(CNKSR2):c.958-5A>G	CNKSR2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3146488	NM_014927.5(CNKSR2):c.526A>T (p.Thr176Ser)	CNKSR2 (T176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146487	NM_014927.5(CNKSR2):c.2591C>T (p.Ala864Val)	CNKSR2 (A834V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146486	NM_014927.5(CNKSR2):c.2393C>T (p.Ala798Val)	CNKSR2 (A749V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146485	NM_014927.5(CNKSR2):c.2250_2256del (p.Gly751fs)	CNKSR2 (G672fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3146483	NM_014927.5(CNKSR2):c.179T>C (p.Ile60Thr)	CNKSR2 (I60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146482	NM_014927.5(CNKSR2):c.1289G>A (p.Ser430Asn)	CNKSR2 (S381N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146481	NM_014927.5(CNKSR2):c.119G>A (p.Ser40Asn)	CNKSR2 (S40N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069089	NM_014927.5(CNKSR2):c.3088A>G (p.Ile1030Val)	CNKSR2 (I1000V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3052020	NM_014927.5(CNKSR2):c.2007A>G (p.Ala669=)	CNKSR2	Single nucleotide variant (synonymous variant)	CNKSR2-related disorder	GLikely benign
Select item 3049963	NM_014927.5(CNKSR2):c.681+9T>C	CNKSR2	Single nucleotide variant (intron variant)	CNKSR2-related disorder	GLikely benign
Select item 3049439	NM_014927.5(CNKSR2):c.2683G>A (p.Gly895Arg)	CNKSR2 (G816R +3 more)	Single nucleotide variant (missense variant)	CNKSR2-related disorder	GUncertain significance
Select item 3026531	NM_014927.5(CNKSR2):c.1537C>T (p.Pro513Ser)	CNKSR2 (P434S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025486	NM_014927.5(CNKSR2):c.435A>G (p.Ser145=)	CNKSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025182	NM_014927.5(CNKSR2):c.1749G>A (p.Ala583=)	CNKSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685443	GRCh37/hg19 Xp22.12(chrX:21500494-21574694)x0	CNKSR2	Copy number loss	not provided	GPathogenic
Select item 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671822	NM_014927.5(CNKSR2):c.1657+1G>A	CNKSR2	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 2663218	NM_014927.5(CNKSR2):c.2782C>T (p.Arg928Cys)	CNKSR2 (R849C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663141	NM_014927.5(CNKSR2):c.2387A>T (p.Asp796Val)	CNKSR2 (D717V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662034	NM_014927.5(CNKSR2):c.436C>G (p.Pro146Ala)	CNKSR2 (P146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661882	GRCh37/hg19 Xp22.12(chrX:21393016-21675906)x1	CNKSR2, KLHL34	Copy number loss	not provided	GPathogenic
Select item 2661881	GRCh37/hg19 Xp22.12(chrX:21393016-21675906)x0	CNKSR2, KLHL34	Copy number loss	not provided	GPathogenic
Select item 2660149	NM_014927.5(CNKSR2):c.3096G>C (p.Thr1032=)	CNKSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660148	NM_014927.5(CNKSR2):c.2611G>C (p.Val871Leu)	CNKSR2 (V792L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660147	NM_014927.5(CNKSR2):c.2392_2396delinsCCAGAGCA (p.Ala798_Ala799delinsProGluHis)	CNKSR2	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2660146	NM_014927.5(CNKSR2):c.2154C>T (p.Cys718=)	CNKSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660145	NM_014927.5(CNKSR2):c.982A>G (p.Ser328Gly)	CNKSR2 (S279G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660144	NM_014927.5(CNKSR2):c.714C>G (p.Leu238=)	CNKSR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2660143	NM_014927.5(CNKSR2):c.363A>G (p.Pro121=)	CNKSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580015	NM_014927.5(CNKSR2):c.2462A>G (p.Tyr821Cys)	CNKSR2 (Y742C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574118	NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)	CNKSR2 (R315G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 2573767	NM_014927.5(CNKSR2):c.2791A>G (p.Thr931Ala)	CNKSR2 (T852A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2568736	NM_014927.5(CNKSR2):c.1805C>A (p.Ser602Tyr)	CNKSR2 (S572Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537081	NM_014927.5(CNKSR2):c.592A>G (p.Ile198Val)	CNKSR2 (I198V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527668	NM_014927.5(CNKSR2):c.561+2T>G	CNKSR2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504775	NM_014927.5(CNKSR2):c.778G>A (p.Asp260Asn)	CNKSR2 (D260N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504271	NM_014927.5(CNKSR2):c.1685G>A (p.Arg562Gln)	CNKSR2 (R483Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503168	NM_014927.5(CNKSR2):c.741+4A>G	CNKSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2502494	NM_014927.5(CNKSR2):c.463G>T (p.Val155Phe)	CNKSR2 (V155F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502319	NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)	CNKSR2 (R650* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 2501833	NM_014927.5(CNKSR2):c.1093G>A (p.Asp365Asn)	CNKSR2 (D316N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483375	NM_014927.5(CNKSR2):c.1123C>T (p.Leu375Phe)	CNKSR2 (L326F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478425	NM_014927.5(CNKSR2):c.1292C>T (p.Thr431Ile)	CNKSR2 (T431I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466720	NM_014927.5(CNKSR2):c.2042A>G (p.Gln681Arg)	CNKSR2 (Q632R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2440160	NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)	CNKSR2 (E664A +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 2440159	NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)	CNKSR2 (K481R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 2440158	NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)	CNKSR2 (S374N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 2440157	NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)	CNKSR2 (T1004A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2408132	NM_014927.5(CNKSR2):c.2998A>G (p.Ile1000Val)	CNKSR2 (I951V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333551	NM_014927.5(CNKSR2):c.1505A>G (p.Lys502Arg)	CNKSR2 (K502R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310797	NM_014927.5(CNKSR2):c.3089T>C (p.Ile1030Thr)	CNKSR2 (I1030T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307625	NM_014927.5(CNKSR2):c.2620C>T (p.Pro874Ser)	CNKSR2 (P795S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284811	NM_014927.5(CNKSR2):c.452C>G (p.Thr151Arg)	CNKSR2 (T151R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248745	NM_014927.5(CNKSR2):c.1001C>T (p.Ser334Phe)	CNKSR2 (S285F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227390	NM_014927.5(CNKSR2):c.2637GGA[6] (p.Glu886del)	CNKSR2 (E807del +3 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GBenign
Select item 1879753	NM_014927.5(CNKSR2):c.1657+169A>T	CNKSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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