ClinVar for Gene (Select 1062) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142304	NM_001813.3(CENPE):c.938T>G (p.Phe313Cys)	CENPE (F313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142303	NM_001813.3(CENPE):c.7976G>A (p.Arg2659His)	CENPE (R2659H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142302	NM_001813.3(CENPE):c.7884A>C (p.Glu2628Asp)	CENPE (E2507D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142300	NM_001813.3(CENPE):c.7627C>A (p.Leu2543Ile)	CENPE (L2543I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142299	NM_001813.3(CENPE):c.7369A>T (p.Ile2457Phe)	CENPE (I2336F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142298	NM_001813.3(CENPE):c.6462A>C (p.Lys2154Asn)	CENPE (K2154N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142297	NM_001813.3(CENPE):c.6400C>T (p.Leu2134Phe)	CENPE (L2013F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142296	NM_001813.3(CENPE):c.6356G>A (p.Arg2119Lys)	CENPE (R1998K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142294	NM_001813.3(CENPE):c.6070A>T (p.Thr2024Ser)	CENPE (T2024S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142293	NM_001813.3(CENPE):c.542G>T (p.Trp181Leu)	CENPE (W181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142292	NM_001813.3(CENPE):c.5278C>T (p.His1760Tyr)	CENPE (H1735Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142291	NM_001813.3(CENPE):c.5253A>G (p.Ile1751Met)	CENPE (I1726M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142290	NM_001813.3(CENPE):c.4739A>G (p.Glu1580Gly)	CENPE (E1580G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142289	NM_001813.3(CENPE):c.4213G>A (p.Glu1405Lys)	CENPE (E1405K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142288	NM_001813.3(CENPE):c.3872T>C (p.Leu1291Ser)	CENPE (L1291S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142287	NM_001813.3(CENPE):c.3779A>G (p.Glu1260Gly)	CENPE (E1235G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142286	NM_001813.3(CENPE):c.3376G>A (p.Glu1126Lys)	CENPE (E1101K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142285	NM_001813.3(CENPE):c.334G>A (p.Asp112Asn)	CENPE (D112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142284	NM_001813.3(CENPE):c.3331A>G (p.Lys1111Glu)	CENPE (K1111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142282	NM_001813.3(CENPE):c.2860G>T (p.Asp954Tyr)	CENPE (D954Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142281	NM_001813.3(CENPE):c.2639G>A (p.Arg880His)	CENPE (R880H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142279	NM_001813.3(CENPE):c.2513A>G (p.Glu838Gly)	CENPE (E838G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142278	NM_001813.3(CENPE):c.2377G>T (p.Gly793Cys)	CENPE (G793C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142277	NM_001813.3(CENPE):c.2203G>A (p.Glu735Lys)	CENPE (E710K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142276	NM_001813.3(CENPE):c.2050G>A (p.Val684Ile)	CENPE (V659I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142275	NM_001813.3(CENPE):c.2006T>C (p.Ile669Thr)	CENPE (I644T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142274	NM_001813.3(CENPE):c.1475A>G (p.Asn492Ser)	CENPE (N492S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3065382	NM_001813.3(CENPE):c.885del (p.Leu296fs)	CENPE (L296fs)	Deletion (frameshift variant)	Microcephaly 13, primary, autosomal recessive	GLikely pathogenic
Select item 3065153	NM_001813.3(CENPE):c.1403_1404del (p.Glu468fs)	CENPE (E468fs)	Microsatellite (frameshift variant)	Microcephaly 13, primary, autosomal recessive	GLikely pathogenic
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3061477	NM_001813.3(CENPE):c.7593A>T (p.Gly2531=)	CENPE	Single nucleotide variant (synonymous variant)	CENPE-related condition	GLikely benign
Select item 3058422	NM_001813.3(CENPE):c.4134+10G>A	CENPE	Single nucleotide variant (intron variant)	CENPE-related condition	GLikely benign
Select item 3058076	NM_001813.3(CENPE):c.1020T>C (p.Thr340=)	CENPE	Single nucleotide variant (synonymous variant)	CENPE-related condition	GLikely benign
Select item 3051938	NM_001813.3(CENPE):c.1811A>T (p.Glu604Val)	CENPE (E579V +1 more)	Single nucleotide variant (missense variant)	CENPE-related condition	GLikely benign
Select item 3046096	NM_001813.3(CENPE):c.2900G>A (p.Arg967Gln)	CENPE (R942Q +1 more)	Single nucleotide variant (missense variant)	CENPE-related condition	GLikely benign
Select item 3044136	NM_001813.3(CENPE):c.2875-9C>A	CENPE	Single nucleotide variant (intron variant)	CENPE-related condition	GLikely benign
Select item 3043965	NM_001813.3(CENPE):c.4248A>G (p.Leu1416=)	CENPE	Single nucleotide variant (synonymous variant)	CENPE-related condition	GLikely benign
Select item 3025726	NM_001813.3(CENPE):c.3687A>G (p.Thr1229=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2682603	NM_001813.3(CENPE):c.1410T>A (p.Asp470Glu)	CENPE (D470E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682602	NM_001813.3(CENPE):c.627+17A>G	CENPE	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2654988	NM_001813.3(CENPE):c.204A>G (p.Ala68=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654987	NM_001813.3(CENPE):c.1932T>C (p.Leu644=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654986	NM_001813.3(CENPE):c.6867C>A (p.Ile2289=)	CENPE	Single nucleotide variant (synonymous variant)	CENPE-related condition +1 more	GLikely benign
Select item 2629431	NM_001813.3(CENPE):c.2226A>T (p.Glu742Asp)	CENPE (E717D +1 more)	Single nucleotide variant (missense variant)	CENPE-related condition	GUncertain significance
Select item 2628578	NM_001813.3(CENPE):c.6077A>G (p.Lys2026Arg)	CENPE (K2026R)	Single nucleotide variant (missense variant +1 more)	CENPE-related condition	GUncertain significance
Select item 2622870	NM_001813.3(CENPE):c.4274G>C (p.Gly1425Ala)	CENPE (G1425A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607594	NM_001813.3(CENPE):c.3005G>A (p.Gly1002Glu)	CENPE (G1002E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607593	NM_001813.3(CENPE):c.1295A>G (p.Lys432Arg)	CENPE (K432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604378	NM_001813.3(CENPE):c.5239A>G (p.Lys1747Glu)	CENPE (K1747E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590512	NM_001813.3(CENPE):c.2743G>A (p.Glu915Lys)	CENPE (E890K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578260	NM_001813.3(CENPE):c.7603G>A (p.Gly2535Ser)	CENPE (G2414S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2568628	NM_001813.3(CENPE):c.5225G>A (p.Gly1742Glu)	CENPE (G1717E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558983	NM_001813.3(CENPE):c.2740A>C (p.Thr914Pro)	CENPE (T889P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558507	NM_001813.3(CENPE):c.2110A>G (p.Ile704Val)	CENPE (I679V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543153	NM_001813.3(CENPE):c.7096A>G (p.Asn2366Asp)	CENPE (N2366D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541642	NM_001813.3(CENPE):c.7646A>T (p.His2549Leu)	CENPE (H2549L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540540	NM_001813.3(CENPE):c.4112A>C (p.His1371Pro)	CENPE (H1346P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539206	NM_001813.3(CENPE):c.7370T>C (p.Ile2457Thr)	CENPE (I2336T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533851	NM_001813.3(CENPE):c.6858A>C (p.Lys2286Asn)	CENPE (K2165N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532136	NM_001813.3(CENPE):c.1336A>T (p.Ile446Leu)	CENPE (I446L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531624	NM_001813.3(CENPE):c.3185T>A (p.Val1062Asp)	CENPE (V1062D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518664	NM_001813.3(CENPE):c.7195C>T (p.His2399Tyr)	CENPE (H2399Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515533	NM_001813.3(CENPE):c.6071C>T (p.Thr2024Ile)	CENPE (T2024I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2505962	NM_001813.3(CENPE):c.7192A>G (p.Met2398Val)	CENPE (M2277V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504866	NM_001813.3(CENPE):c.2981A>G (p.Asn994Ser)	CENPE (N969S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504861	NM_001813.3(CENPE):c.1183G>A (p.Glu395Lys)	CENPE (E395K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504798	NM_001813.3(CENPE):c.3492G>T (p.Lys1164Asn)	CENPE (K1139N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499543	NM_001813.3(CENPE):c.2748dup (p.Leu917fs)	CENPE (L892fs +1 more)	Duplication (frameshift variant)	Microcephaly 13, primary, autosomal recessive	GUncertain significance
Select item 2483554	NM_001813.3(CENPE):c.4577A>C (p.Gln1526Pro)	CENPE (Q1526P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482739	NM_001813.3(CENPE):c.7553A>T (p.His2518Leu)	CENPE (H2518L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477502	NM_001813.3(CENPE):c.6377A>T (p.Lys2126Met)	CENPE (K2126M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473412	NM_001813.3(CENPE):c.5879A>T (p.Asp1960Val)	CENPE (D1935V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472389	NM_001813.3(CENPE):c.2908C>G (p.Leu970Val)	CENPE (L945V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471821	NM_001813.3(CENPE):c.125A>G (p.Asp42Gly)	CENPE (D42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456520	NM_001813.3(CENPE):c.325G>A (p.Ala109Thr)	CENPE (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	SLC39A8, TBCK +19 more	Duplication	not provided	GUncertain significance
Select item 2439895	NM_001813.3(CENPE):c.3494A>G (p.Asn1165Ser)	CENPE (N1140S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2424810	NC_000004.11:g.(?_101947022)_(106061534_?)del	BANK1, BDH2 +11 more	Deletion	not provided	GPathogenic
Select item 2405647	NM_001813.3(CENPE):c.6198A>G (p.Ile2066Met)	CENPE (I2066M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401660	NM_001813.3(CENPE):c.5995A>G (p.Met1999Val)	CENPE (M1999V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393196	NM_001813.3(CENPE):c.6779A>G (p.Gln2260Arg)	CENPE (Q2139R +1 more)	Single nucleotide variant (missense variant)	CENPE-related condition +1 more	GUncertain significance
Select item 2390250	NM_001813.3(CENPE):c.2887C>G (p.Gln963Glu)	CENPE (Q938E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388698	NM_001813.3(CENPE):c.2705C>T (p.Thr902Met)	CENPE (T902M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388524	NM_001813.3(CENPE):c.2560G>A (p.Ala854Thr)	CENPE (A829T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387596	NM_001813.3(CENPE):c.3449T>C (p.Met1150Thr)	CENPE (M1150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379460	NM_001813.3(CENPE):c.7381A>C (p.Lys2461Gln)	CENPE (K2340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374071	NM_001813.3(CENPE):c.104A>G (p.Asn35Ser)	CENPE (N35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357003	NM_001813.3(CENPE):c.1322A>C (p.Asn441Thr)	CENPE (N441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343995	NM_001813.3(CENPE):c.4728C>A (p.Asn1576Lys)	CENPE (N1576K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343419	NM_001813.3(CENPE):c.5427A>C (p.Lys1809Asn)	CENPE (K1784N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339153	NM_001813.3(CENPE):c.3495T>G (p.Asn1165Lys)	CENPE (N1165K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337982	NM_001813.3(CENPE):c.7436A>G (p.Glu2479Gly)	CENPE (E2358G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336522	NM_001813.3(CENPE):c.2698G>T (p.Asp900Tyr)	CENPE (D900Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327205	NM_001813.3(CENPE):c.2794G>T (p.Asp932Tyr)	CENPE (D907Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325959	NM_001813.3(CENPE):c.6565G>A (p.Glu2189Lys)	CENPE (E2068K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325368	NM_001813.3(CENPE):c.3967C>A (p.Leu1323Met)	CENPE (L1298M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324345	NM_001813.3(CENPE):c.5200C>G (p.Gln1734Glu)	CENPE (Q1734E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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