ClinVar for Gene (Select 79682) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309918	NM_152683.4(PRIMPOL):c.1483C>T (p.Pro495Ser)	CENPU, PRIMPOL (P366S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3265955	NM_024629.4(CENPU):c.154G>T (p.Val52Phe)	CENPU (V52F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265954	NM_024629.4(CENPU):c.344C>T (p.Ala115Val)	CENPU (A115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265953	NM_024629.4(CENPU):c.121A>G (p.Ile41Val)	CENPU (I41V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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 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 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 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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +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 3056030	NM_152683.4(PRIMPOL):c.1450_1458del (p.Ala484_Glu486del)	CENPU, PRIMPOL	Deletion (inframe_deletion +2 more)	PRIMPOL-related disorder	GBenign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2304952	NM_024629.4(CENPU):c.958A>G (p.Met320Val)	CENPU (M320V)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	CFAP96, CFAP97 +36 more	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 814639	GRCh37/hg19 4q35.1(chr4:185211828-185748806)x3	ACSL1, CASP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814638	GRCh37/hg19 4q35.1(chr4:184695117-185817439)x3	ENPP6, ACSL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	MTNR1A, PDLIM3 +37 more	Copy number loss	not provided	GLikely pathogenic
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 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 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688505	GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3	ACSL1, ANKRD37 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	not provided	GPathogenic
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441943	GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3	ACSL1, ANKRD37 +16 more	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394376	GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1	LRP2BP, TRIML1 +24 more	Copy number loss	See cases	GPathogenic
Select item 394092	GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	ACSL1, ANKRD37 +23 more	Copy number gain	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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