CENPE[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 413

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 1216124	NM_001813.3(CENPE):c.8080G>A (p.Asp2694Asn)	CENPE (D2573N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3265878	NM_001813.3(CENPE):c.8079G>C (p.Lys2693Asn)	CENPE (K2572N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753994	NM_001813.3(CENPE):c.8049G>A (p.Gln2683=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803642	NM_001813.3(CENPE):c.8041G>C (p.Asp2681His)	CENPE (D2560H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290610	NM_001813.3(CENPE):c.8012-171C>T	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231699	NM_001813.3(CENPE):c.8011+221C>G	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259061	NM_001813.3(CENPE):c.8011+211_8011+214del	CENPE	Deletion (intron variant)	not provided	GBenign
Select item 1012502	NM_001813.3(CENPE):c.8008C>T (p.Pro2670Ser)	CENPE (P2549S +1 more)	Single nucleotide variant (missense variant)	not provided	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 792300	NM_001813.3(CENPE):c.7959A>G (p.Pro2653=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317622	NM_001813.3(CENPE):c.7918C>T (p.Pro2640Ser)	CENPE (P2519S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434698	NM_001813.3(CENPE):c.7886G>A (p.Arg2629Gln)	CENPE (R2629Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 745843	NM_001813.3(CENPE):c.7827T>G (p.Pro2609=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736661	NM_001813.3(CENPE):c.7821G>A (p.Lys2607=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746376	NM_001813.3(CENPE):c.7773C>G (p.Thr2591=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786043	NM_001813.3(CENPE):c.7764G>A (p.Lys2588=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1298966	NM_001813.3(CENPE):c.7732C>G (p.Gln2578Glu)	CENPE (Q2457E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301480	NM_001813.3(CENPE):c.7725-147T>G	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301481	NM_001813.3(CENPE):c.7724+16A>G	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 434692	NM_001813.3(CENPE):c.7602C>T (p.Ser2534=)	CENPE	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3061477	NM_001813.3(CENPE):c.7593A>T (p.Gly2531=)	CENPE	Single nucleotide variant (synonymous variant)	CENPE-related disorder	GLikely benign
Select item 1708718	NM_001813.3(CENPE):c.7556C>A (p.Thr2519Asn)	CENPE (T2398N +1 more)	Single nucleotide variant (missense variant)	not provided	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 756919	NM_001813.3(CENPE):c.7551A>G (p.Glu2517=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797524	NM_001813.3(CENPE):c.7542G>A (p.Val2514=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1226963	NM_001813.3(CENPE):c.7541-96C>T	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267905	NM_001813.3(CENPE):c.7442+300GT[14]	CENPE	Microsatellite (intron variant)	not provided	GBenign
Select item 1261367	NM_001813.3(CENPE):c.7442+300GT[18]	CENPE	Microsatellite (intron variant)	not provided	GBenign
Select item 1249673	NM_001813.3(CENPE):c.7442+300GT[20]	CENPE	Microsatellite (intron variant)	not provided	GBenign
Select item 1246291	NM_001813.3(CENPE):c.7442+300GT[17]	CENPE	Microsatellite (intron variant)	not provided	GBenign
Select item 1211954	NM_001813.3(CENPE):c.7442+300GT[19]	CENPE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1203658	NM_001813.3(CENPE):c.7442+300GT[15]	CENPE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1189858	NM_001813.3(CENPE):c.7442+215A>G	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 711862	NM_001813.3(CENPE):c.7389G>A (p.Lys2463=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1282652	NM_001813.3(CENPE):c.7329+12A>G	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311208	NM_001813.3(CENPE):c.7294C>T (p.Leu2432Phe)	CENPE (L2311F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285171	NM_001813.3(CENPE):c.7222C>A (p.Gln2408Lys)	CENPE (Q2408K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1302222	NM_001813.3(CENPE):c.7205G>A (p.Ser2402Asn)	CENPE (S2281N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336089	NM_001813.3(CENPE):c.7202A>G (p.Glu2401Gly)	CENPE (E2280G +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 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 1032006	NM_001813.3(CENPE):c.7187G>A (p.Ser2396Asn)	CENPE (S2275N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1336419	NM_001813.3(CENPE):c.7173T>G (p.His2391Gln)	CENPE (H2270Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207990	NM_001813.3(CENPE):c.7172A>G (p.His2391Arg)	CENPE (H2270R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1211122	NM_001813.3(CENPE):c.7144-91_7144-90del	CENPE	Deletion (intron variant)	not provided	GLikely benign
Select item 1676917	NM_001813.3(CENPE):c.7144-183A>C	CENPE	Single nucleotide variant (intron variant)	not provided	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 1311501	NM_001813.3(CENPE):c.7050G>T (p.Lys2350Asn)	CENPE (K2229N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315181	NM_001813.3(CENPE):c.6985G>C (p.Glu2329Gln)	CENPE (E2208Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 376761	NM_001813.3(CENPE):c.6974C>G (p.Ser2325Cys)	CENPE (S2325C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 720574	NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val)	CENPE (I2189V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1202107	NM_001813.3(CENPE):c.6925-37C>T	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202694	NM_001813.3(CENPE):c.6925-232G>A	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230635	NM_001813.3(CENPE):c.6925-283G>A	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202719	NM_001813.3(CENPE):c.6924+199_6924+201del	CENPE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 218598	NM_001813.3(CENPE):c.6907T>A (p.Phe2303Ile)	CENPE (F2303I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2654986	NM_001813.3(CENPE):c.6867C>A (p.Ile2289=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1307542	NM_001813.3(CENPE):c.6835C>T (p.Arg2279Cys)	CENPE (R2158C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805810	NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)	CENPE (E2152K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 13, primary, autosomal recessive	GUncertain significance
Select item 717194	NM_001813.3(CENPE):c.6798A>G (p.Lys2266=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2393196	NM_001813.3(CENPE):c.6779A>G (p.Gln2260Arg)	CENPE (Q2139R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 760380	NM_001813.3(CENPE):c.6721-5C>T	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288419	NM_001813.3(CENPE):c.6720+166T>C	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2249889	NM_001813.3(CENPE):c.6664C>G (p.Pro2222Ala)	CENPE (P2101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336265	NM_001813.3(CENPE):c.6645T>G (p.Leu2215=)	CENPE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1306927	NM_001813.3(CENPE):c.6635T>C (p.Ile2212Thr)	CENPE (I2091T +1 more)	Single nucleotide variant (missense variant)	not provided	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 1190085	NM_001813.3(CENPE):c.6523-197G>A	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227663	NM_001813.3(CENPE):c.6522+177G>A	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182486	NM_001813.3(CENPE):c.6522+50C>T	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308851	NM_001813.3(CENPE):c.6488C>T (p.Ser2163Phe)	CENPE (S2042F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364251	NM_001813.3(CENPE):c.6464T>A (p.Leu2155His)	CENPE (L2034H +1 more)	Single nucleotide variant (missense variant)	not provided	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 763489	NM_001813.3(CENPE):c.6456T>C (p.Ile2152=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3265872	NM_001813.3(CENPE):c.6455T>C (p.Ile2152Thr)	CENPE (I2152T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1202270	NM_001813.3(CENPE):c.6437A>G (p.Tyr2146Cys)	CENPE (Y2025C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 738844	NM_001813.3(CENPE):c.6435C>G (p.Pro2145=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3265879	NM_001813.3(CENPE):c.6369C>G (p.Asp2123Glu)	CENPE (D2002E +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 1214598	NM_001813.3(CENPE):c.6303+295G>A	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212819	NM_001813.3(CENPE):c.6303+225T>C	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191447	NM_001813.3(CENPE):c.6303+148G>A	CENPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209847	NM_001813.3(CENPE):c.6269C>T (p.Thr2090Met)	CENPE (T1969M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 792848	NM_001813.3(CENPE):c.6240G>A (p.Arg2080=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1182851	NM_001813.3(CENPE):c.6205-75del	CENPE	Deletion (intron variant)	not provided	GLikely benign
Select item 1292040	NM_001813.3(CENPE):c.6205-217T>C	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290919	NM_001813.3(CENPE):c.6204+265T>A	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280184	NM_001813.3(CENPE):c.6204+165G>A	CENPE	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 5