CENPU[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 149

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993418, LOC129993419 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC126807277, LOC126807278 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	AADAT, ACSL1 +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC441052, LRP2BP +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	LOC129993473, LOC129993474 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC129993510, LOC129993511 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	PRIMPOL, RWDD4 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	ACSL1, ADAM29 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	CFAP97, ACSL1 +148 more	Copy number loss	See cases	GUncertain significance
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 148840	GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3	ACSL1, CASP3 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3056030	NM_152683.4(PRIMPOL):c.1450_1458del (p.Ala484_Glu486del)	CENPU, PRIMPOL	Deletion (inframe deletion +2 more)	PRIMPOL-related disorder	GBenign
Select item 2296598	NM_152683.4(PRIMPOL):c.1442C>G (p.Thr481Arg)	CENPU, PRIMPOL (T248R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385103	NM_152683.4(PRIMPOL):c.1451C>G (p.Ala484Gly)	CENPU, PRIMPOL (A265G +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218679	NM_152683.4(PRIMPOL):c.1477C>G (p.Gln493Glu)	CENPU, PRIMPOL (Q261E +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408184	NM_152683.4(PRIMPOL):c.1530T>G (p.Asp510Glu)	CENPU, PRIMPOL (D381E +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218680	NM_152683.4(PRIMPOL):c.1538G>C (p.Trp513Ser)	CENPU, PRIMPOL (W280S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218681	NM_152683.4(PRIMPOL):c.1607A>G (p.Glu536Gly)	CENPU, PRIMPOL (E407G +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534977	NM_152683.4(PRIMPOL):c.1654G>C (p.Glu552Gln)	CENPU, PRIMPOL (E333Q +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303484	NM_024629.4(CENPU):c.1229A>T (p.Gln410Leu)	CENPU (Q410L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207159	NM_024629.4(CENPU):c.1226A>G (p.His409Arg)	CENPU (H409R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219917	NM_024629.4(CENPU):c.1220T>C (p.Ile407Thr)	CENPU (I407T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403032	NM_024629.4(CENPU):c.1214G>A (p.Arg405Gln)	CENPU (R405Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489045	NM_024629.4(CENPU):c.1207C>T (p.His403Tyr)	CENPU (H403Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222518	NM_024629.4(CENPU):c.1198G>A (p.Ala400Thr)	CENPU (A400T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304465	NM_024629.4(CENPU):c.1148A>G (p.Asp383Gly)	CENPU (D383G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314136	NM_024629.4(CENPU):c.1090C>T (p.Leu364Phe)	CENPU (L364F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723159	NM_024629.4(CENPU):c.1063G>A (p.Ala355Thr)	CENPU (A355T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2456477	NM_024629.4(CENPU):c.1040G>C (p.Arg347Thr)	CENPU (R347T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142442	NM_024629.4(CENPU):c.994C>G (p.Pro332Ala)	CENPU (P332A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304952	NM_024629.4(CENPU):c.958A>G (p.Met320Val)	CENPU (M320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347187	NM_024629.4(CENPU):c.877C>T (p.Leu293Phe)	CENPU (L293F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723160	NM_024629.4(CENPU):c.829G>T (p.Ala277Ser)	CENPU (A277S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2284989	NM_024629.4(CENPU):c.629A>G (p.Lys210Arg)	CENPU (K210R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142440	NM_024629.4(CENPU):c.601G>T (p.Ala201Ser)	CENPU (A201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205763	NM_024629.4(CENPU):c.505G>A (p.Ala169Thr)	CENPU (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330502	NM_024629.4(CENPU):c.493A>G (p.Ile165Val)	CENPU (I165V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406287	NM_024629.4(CENPU):c.482G>A (p.Arg161His)	CENPU (R161H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285139	NM_024629.4(CENPU):c.356A>C (p.Glu119Ala)	CENPU (E119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312595	NM_024629.4(CENPU):c.355G>A (p.Glu119Lys)	CENPU (E119K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404057	NM_024629.4(CENPU):c.263C>T (p.Ser88Phe)	CENPU (S88F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402518	NM_024629.4(CENPU):c.240A>G (p.Ile80Met)	CENPU (I80M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306021	NM_024629.4(CENPU):c.235G>C (p.Ala79Pro)	CENPU (A79P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514467	NM_024629.4(CENPU):c.196G>A (p.Glu66Lys)	CENPU (E66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142437	NM_024629.4(CENPU):c.134A>T (p.Asp45Val)	CENPU (D45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264293	NM_024629.4(CENPU):c.118C>T (p.Pro40Ser)	CENPU (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458264	NM_024629.4(CENPU):c.55C>T (p.Arg19Cys)	CENPU (R19C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142439	NM_024629.4(CENPU):c.34C>T (p.His12Tyr)	CENPU (H12Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363267	NM_024629.4(CENPU):c.10C>T (p.Arg4Trp)	CENPU (R4W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062802	GRCh37/hg19 4q35.1(chr4:185160596-186000108)x1	ACSL1, CASP3 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062801	GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3	ACSL1, CASP3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic

<< First< Prev

Page of 2