ClinVar for Gene (Select 22866) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 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	KLHL34, CNKSR2	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)	BMX, CXorf38 +821 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)	Intellectual disability, X-linked, syndromic, Houge type +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 +1 more	GBenign/Likely benign
Select item 1879753	NM_014927.5(CNKSR2):c.1657+169A>T	CNKSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810729	NM_014927.5(CNKSR2):c.1359A>T (p.Glu453Asp)	CNKSR2 (E453D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810182	NM_014927.5(CNKSR2):c.1902dup (p.Tyr635fs)	CNKSR2 (Y556fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1809310	GRCh37/hg19 Xp22.12(chrX:21194383-21624986)x2	CNKSR2	Copy number gain	not provided	GUncertain significance
Select item 1807717	GRCh37/hg19 Xp22.12(chrX:21606719-21774071)x1	CNKSR2, KLHL34 +1 more	Copy number loss	not provided	GPathogenic
Select item 1805928	NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)	CNKSR2 (E596fs +3 more)	Microsatellite (frameshift variant)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic
Select item 1802631	NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)	CNKSR2 (R351* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic/Likely pathogenic
Select item 1722892	NM_014927.5(CNKSR2):c.2740A>G (p.Arg914Gly)	CNKSR2 (R835G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722772	NM_014927.5(CNKSR2):c.2705A>T (p.Glu902Val)	CNKSR2 (E823V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711941	NM_014927.5(CNKSR2):c.286G>A (p.Ala96Thr)	CNKSR2 (A96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708511	NM_014927.5(CNKSR2):c.1904+6T>C	CNKSR2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1707310	NM_014927.5(CNKSR2):c.1592A>C (p.Glu531Ala)	CNKSR2 (E452A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707198	NM_014927.5(CNKSR2):c.1138G>A (p.Val380Met)	CNKSR2 (V331M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1700288	NM_014927.5(CNKSR2):c.3014C>A (p.Thr1005Asn)	CNKSR2 (T1005N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697306	NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs)	CNKSR2 (K183fs)	Deletion (frameshift variant)	Intellectual disability, X-linked, syndromic, Houge type	GPathogenic
Select item 1697196	NM_014927.5(CNKSR2):c.278A>G (p.Asn93Ser)	CNKSR2 (N93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690389	NM_014927.5(CNKSR2):c.2680A>G (p.Ile894Val)	CNKSR2 (I815V +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1683664	NM_014927.5(CNKSR2):c.2666C>A (p.Ala889Glu)	CNKSR2 (A810E +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 1679227	NM_014927.5(CNKSR2):c.176G>A (p.Arg59His)	CNKSR2 (R59H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, syndromic, Houge type	GUncertain significance
Select item 1526770	GRCh37/hg19 Xp22.12(chrX:21606718-21773954)	CNKSR2, KLHL34 +1 more	Copy number loss	not specified	GPathogenic
Select item 1418078	NM_014927.5(CNKSR2):c.314G>A (p.Gly105Glu)	CNKSR2 (G105E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340807	GRCh37/hg19 Xp22.12(chrX:21606718-21780720)x0	CNKSR2, KLHL34 +1 more	Copy number loss	not provided	GPathogenic
Select item 1340332	GRCh37/hg19 Xp22.12-22.11(chrX:20760624-22571267)x2	CBLL2, CNKSR2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1336174	NM_014927.5(CNKSR2):c.1497G>A (p.Lys499=)	CNKSR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1329555	NM_014927.5(CNKSR2):c.1115G>C (p.Cys372Ser)	CNKSR2 (C323S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324091	NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter)	CNKSR2 (Q443* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic

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