ClinVar for Gene (Select 9857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142919	NM_014810.5(CEP350):c.9346C>T (p.Leu3116Phe)	CEP350 (L3116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142918	NM_014810.5(CEP350):c.9271G>C (p.Gly3091Arg)	CEP350 (G3091R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142917	NM_014810.5(CEP350):c.9197A>G (p.Glu3066Gly)	CEP350 (E3066G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142916	NM_014810.5(CEP350):c.8985A>C (p.Gln2995His)	CEP350 (Q2995H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142915	NM_014810.5(CEP350):c.8887A>G (p.Ile2963Val)	CEP350 (I2963V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142914	NM_014810.5(CEP350):c.886T>C (p.Ser296Pro)	CEP350 (S296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142913	NM_014810.5(CEP350):c.8738T>C (p.Leu2913Ser)	CEP350 (L2913S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142912	NM_014810.5(CEP350):c.8245G>A (p.Glu2749Lys)	CEP350 (E2749K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142911	NM_014810.5(CEP350):c.8184C>A (p.Asn2728Lys)	CEP350 (N2728K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142910	NM_014810.5(CEP350):c.8048A>C (p.Asp2683Ala)	CEP350 (D2683A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142909	NM_014810.5(CEP350):c.7868T>C (p.Ile2623Thr)	CEP350 (I2623T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142908	NM_014810.5(CEP350):c.7582G>A (p.Gly2528Arg)	CEP350 (G2528R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142906	NM_014810.5(CEP350):c.6667C>A (p.Leu2223Ile)	CEP350 (L2223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142905	NM_014810.5(CEP350):c.6630A>C (p.Arg2210Ser)	CEP350 (R2210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142902	NM_014810.5(CEP350):c.6437C>A (p.Ala2146Glu)	CEP350 (A2146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142901	NM_014810.5(CEP350):c.6434C>T (p.Thr2145Met)	CEP350 (T2145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142900	NM_014810.5(CEP350):c.5957C>A (p.Ser1986Tyr)	CEP350 (S1986Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142899	NM_014810.5(CEP350):c.5902A>C (p.Ser1968Arg)	CEP350 (S1968R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142898	NM_014810.5(CEP350):c.5900G>C (p.Gly1967Ala)	CEP350 (G1967A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142896	NM_014810.5(CEP350):c.5878T>C (p.Ser1960Pro)	CEP350 (S1960P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142895	NM_014810.5(CEP350):c.5485C>T (p.Pro1829Ser)	CEP350 (P1829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142894	NM_014810.5(CEP350):c.5479C>T (p.Arg1827Cys)	CEP350 (R1827C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142893	NM_014810.5(CEP350):c.5440A>C (p.Asn1814His)	CEP350 (N1814H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142892	NM_014810.5(CEP350):c.5161G>C (p.Glu1721Gln)	CEP350 (E1721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142891	NM_014810.5(CEP350):c.50C>T (p.Ser17Phe)	CEP350 (S17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142890	NM_014810.5(CEP350):c.4643G>A (p.Arg1548His)	CEP350 (R1548H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142889	NM_014810.5(CEP350):c.4604A>G (p.Tyr1535Cys)	CEP350 (Y1535C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142888	NM_014810.5(CEP350):c.4387A>G (p.Ile1463Val)	CEP350 (I1463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142887	NM_014810.5(CEP350):c.4337C>T (p.Thr1446Ile)	CEP350 (T1446I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142886	NM_014810.5(CEP350):c.4160C>T (p.Ala1387Val)	CEP350 (A1387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142885	NM_014810.5(CEP350):c.3908C>G (p.Ala1303Gly)	CEP350 (A1303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142884	NM_014810.5(CEP350):c.3808G>A (p.Val1270Ile)	CEP350 (V1270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142883	NM_014810.5(CEP350):c.3772C>G (p.Leu1258Val)	CEP350 (L1258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142882	NM_014810.5(CEP350):c.3731C>T (p.Ser1244Leu)	CEP350 (S1244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142881	NM_014810.5(CEP350):c.3709T>G (p.Ser1237Ala)	CEP350 (S1237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142879	NM_014810.5(CEP350):c.3674A>G (p.Gln1225Arg)	CEP350 (Q1225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142878	NM_014810.5(CEP350):c.3658G>A (p.Val1220Ile)	CEP350 (V1220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142877	NM_014810.5(CEP350):c.346G>A (p.Val116Met)	CEP350 (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142876	NM_014810.5(CEP350):c.3316T>A (p.Tyr1106Asn)	CEP350 (Y1106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142875	NM_014810.5(CEP350):c.3274C>T (p.Arg1092Trp)	CEP350 (R1092W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142874	NM_014810.5(CEP350):c.3218A>G (p.Tyr1073Cys)	CEP350 (Y1073C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142873	NM_014810.5(CEP350):c.3002A>T (p.Asp1001Val)	CEP350 (D1001V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142872	NM_014810.5(CEP350):c.2723A>C (p.Asp908Ala)	CEP350 (D908A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142871	NM_014810.5(CEP350):c.271C>G (p.Pro91Ala)	CEP350 (P91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142870	NM_014810.5(CEP350):c.2592G>T (p.Gln864His)	CEP350 (Q864H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142869	NM_014810.5(CEP350):c.2523T>G (p.Ser841Arg)	CEP350 (S841R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142868	NM_014810.5(CEP350):c.2419A>G (p.Thr807Ala)	CEP350 (T807A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142866	NM_014810.5(CEP350):c.2395T>C (p.Tyr799His)	CEP350 (Y799H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142865	NM_014810.5(CEP350):c.2260A>G (p.Thr754Ala)	CEP350 (T754A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142864	NM_014810.5(CEP350):c.1804A>G (p.Arg602Gly)	CEP350 (R602G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142863	NM_014810.5(CEP350):c.1793A>G (p.Gln598Arg)	CEP350 (Q598R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142862	NM_014810.5(CEP350):c.1777A>G (p.Thr593Ala)	CEP350 (T593A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142861	NM_014810.5(CEP350):c.1775A>G (p.Asp592Gly)	CEP350 (D592G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142860	NM_014810.5(CEP350):c.1486C>T (p.Arg496Trp)	CEP350 (R496W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685833	GRCh37/hg19 1q25.2(chr1:180023361-180214151)x3	CEP350, LHX4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2639599	NM_014810.5(CEP350):c.8985A>G (p.Gln2995=)	CEP350	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639598	NM_014810.5(CEP350):c.8682C>T (p.Thr2894=)	CEP350	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639597	NM_014810.5(CEP350):c.6484C>T (p.Leu2162=)	CEP350	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639596	NM_014810.5(CEP350):c.4281G>T (p.Leu1427=)	CEP350	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639595	NM_014810.5(CEP350):c.3825A>G (p.Ser1275=)	CEP350	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639594	NM_014810.5(CEP350):c.1998A>G (p.Leu666=)	CEP350	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622349	NM_014810.5(CEP350):c.1139T>C (p.Ile380Thr)	CEP350 (I380T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619908	NM_014810.5(CEP350):c.7014G>T (p.Met2338Ile)	CEP350 (M2338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617759	NM_014810.5(CEP350):c.1759A>G (p.Lys587Glu)	CEP350 (K587E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617060	NM_014810.5(CEP350):c.1514C>G (p.Ala505Gly)	CEP350 (A505G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611308	NM_014810.5(CEP350):c.9046A>G (p.Asn3016Asp)	CEP350 (N3016D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611006	NM_014810.5(CEP350):c.3331G>A (p.Val1111Ile)	CEP350 (V1111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608176	NM_014810.5(CEP350):c.6904G>A (p.Asp2302Asn)	CEP350 (D2302N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595939	NM_014810.5(CEP350):c.8905A>G (p.Arg2969Gly)	CEP350 (R2969G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591379	NM_014810.5(CEP350):c.4262G>A (p.Arg1421Gln)	CEP350 (R1421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589702	NM_014810.5(CEP350):c.6707A>G (p.Asn2236Ser)	CEP350 (N2236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589136	NM_014810.5(CEP350):c.6184C>T (p.Arg2062Trp)	CEP350 (R2062W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559987	NM_014810.5(CEP350):c.8054C>G (p.Thr2685Ser)	CEP350 (T2685S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551255	NM_014810.5(CEP350):c.7328G>A (p.Ser2443Asn)	CEP350 (S2443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549202	NM_014810.5(CEP350):c.356A>C (p.Asn119Thr)	CEP350 (N119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546613	NM_014810.5(CEP350):c.2048C>T (p.Thr683Ile)	CEP350 (T683I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546412	NM_014810.5(CEP350):c.115G>A (p.Ala39Thr)	CEP350 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545122	NM_014810.5(CEP350):c.8150C>T (p.Thr2717Ile)	CEP350 (T2717I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541470	NM_014810.5(CEP350):c.6626T>A (p.Leu2209His)	CEP350 (L2209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539237	NM_014810.5(CEP350):c.4341C>G (p.Asp1447Glu)	CEP350 (D1447E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538960	NM_014810.5(CEP350):c.2674A>G (p.Arg892Gly)	CEP350 (R892G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538167	NM_014810.5(CEP350):c.8965G>A (p.Glu2989Lys)	CEP350 (E2989K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532347	NM_014810.5(CEP350):c.3236G>A (p.Gly1079Glu)	CEP350 (G1079E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531953	NM_014810.5(CEP350):c.6679C>T (p.Pro2227Ser)	CEP350 (P2227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522026	NM_014810.5(CEP350):c.6603T>G (p.Asp2201Glu)	CEP350 (D2201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519481	NM_014810.5(CEP350):c.361C>T (p.Arg121Cys)	CEP350 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514962	NM_014810.5(CEP350):c.5302C>T (p.Arg1768Trp)	CEP350 (R1768W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507836	NM_014810.5(CEP350):c.7336A>G (p.Ile2446Val)	CEP350 (I2446V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493532	NM_014810.5(CEP350):c.2705C>T (p.Ser902Phe)	CEP350 (S902F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488232	NM_014810.5(CEP350):c.5555G>A (p.Arg1852His)	CEP350 (R1852H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483878	NM_014810.5(CEP350):c.8822G>T (p.Gly2941Val)	CEP350 (G2941V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482061	NM_014810.5(CEP350):c.3286G>A (p.Ala1096Thr)	CEP350 (A1096T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481077	NM_014810.5(CEP350):c.7836T>A (p.Phe2612Leu)	CEP350 (F2612L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472039	NM_014810.5(CEP350):c.8447T>G (p.Phe2816Cys)	CEP350 (F2816C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463512	NM_014810.5(CEP350):c.4934A>T (p.His1645Leu)	CEP350 (H1645L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457291	NM_014810.5(CEP350):c.536G>A (p.Cys179Tyr)	CEP350 (C179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455807	NM_014810.5(CEP350):c.3849G>A (p.Met1283Ile)	CEP350 (M1283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406971	NM_014810.5(CEP350):c.6196T>C (p.Ser2066Pro)	CEP350 (S2066P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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