ClinVar for Gene (Select 201973) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355630	NM_152683.4(PRIMPOL):c.190G>A (p.Val64Ile)	PRIMPOL (V64I)	Single nucleotide variant (5 prime UTR variant +2 more)	PRIMPOL-related disorder	GUncertain significance
Select item 3355041	NM_152683.4(PRIMPOL):c.1378+5del	PRIMPOL	Deletion (intron variant)	PRIMPOL-related disorder	GUncertain significance
Select item 3350436	NM_152683.4(PRIMPOL):c.305T>C (p.Val102Ala)	PRIMPOL (V102A)	Single nucleotide variant (5 prime UTR variant +3 more)	PRIMPOL-related disorder	GBenign
Select item 3339139	NM_152683.4(PRIMPOL):c.582G>T (p.Gln194His)	PRIMPOL (Q194H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3309923	NM_152683.4(PRIMPOL):c.116C>T (p.Pro39Leu)	PRIMPOL (P39L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3309922	NM_152683.4(PRIMPOL):c.378T>G (p.Asp126Glu)	PRIMPOL (D126E)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3309921	NM_152683.4(PRIMPOL):c.1280A>G (p.Lys427Arg)	PRIMPOL (K252R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309920	NM_152683.4(PRIMPOL):c.988T>G (p.Ser330Ala)	PRIMPOL (S155A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3309919	NM_152683.4(PRIMPOL):c.1145A>G (p.His382Arg)	PRIMPOL (H149R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3309917	NM_152683.4(PRIMPOL):c.208A>G (p.Lys70Glu)	PRIMPOL (K70E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3218686	NM_152683.4(PRIMPOL):c.716C>T (p.Thr239Ile)	PRIMPOL (T7I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218685	NM_152683.4(PRIMPOL):c.60G>T (p.Glu20Asp)	PRIMPOL (E20D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3218684	NM_152683.4(PRIMPOL):c.353A>G (p.Asn118Ser)	PRIMPOL (N118S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3218683	NM_152683.4(PRIMPOL):c.269A>G (p.Tyr90Cys)	PRIMPOL (I8V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3218682	NM_152683.4(PRIMPOL):c.227G>A (p.Arg76His)	PRIMPOL (R76H)	Single nucleotide variant (5 prime UTR 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 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 3218678	NM_152683.4(PRIMPOL):c.1296G>A (p.Met432Ile)	PRIMPOL (M348I +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218677	NM_152683.4(PRIMPOL):c.1273G>A (p.Ala425Thr)	PRIMPOL (A341T +6 more)	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 3060235	NM_152683.4(PRIMPOL):c.948G>A (p.Gln316=)	PRIMPOL	Single nucleotide variant (synonymous variant +2 more)	PRIMPOL-related disorder	GBenign
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 3053134	NM_152683.4(PRIMPOL):c.33A>T (p.Gln11His)	PRIMPOL (Q11H)	Single nucleotide variant (missense variant +3 more)	PRIMPOL-related disorder	GBenign
Select item 3052358	NM_152683.4(PRIMPOL):c.1251G>A (p.Arg417=)	PRIMPOL	Single nucleotide variant (synonymous variant +1 more)	PRIMPOL-related disorder	GLikely benign
Select item 3039377	NM_152683.4(PRIMPOL):c.591T>C (p.Leu197=)	PRIMPOL	Single nucleotide variant (synonymous variant +2 more)	PRIMPOL-related disorder	GLikely benign
Select item 3034847	NM_152683.4(PRIMPOL):c.278+3A>G	PRIMPOL	Single nucleotide variant (intron variant)	PRIMPOL-related disorder	GLikely benign
Select item 3034069	NM_152683.4(PRIMPOL):c.707A>G (p.Glu236Gly)	PRIMPOL (E107G +3 more)	Single nucleotide variant (missense variant +1 more)	PRIMPOL-related disorder	GUncertain significance
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 2685135	GRCh37/hg19 4q35.1(chr4:185521937-185609790)x1	CASP3, PRIMPOL	Copy number loss	not provided	GUncertain significance
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 2633068	NM_152683.4(PRIMPOL):c.4A>G (p.Asn2Asp)	PRIMPOL (N2D)	Single nucleotide variant (missense variant +3 more)	PRIMPOL-related disorder	GUncertain significance
Select item 2627010	NM_152683.4(PRIMPOL):c.1328A>G (p.Tyr443Cys)	PRIMPOL (Y210C +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2613845	NM_152683.4(PRIMPOL):c.1336T>C (p.Cys446Arg)	PRIMPOL (C227R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604253	NM_152683.4(PRIMPOL):c.1150G>A (p.Val384Ile)	PRIMPOL (V255I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540515	NM_152683.4(PRIMPOL):c.1045T>C (p.Ser349Pro)	PRIMPOL (S349P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535629	NM_152683.4(PRIMPOL):c.148C>G (p.Gln50Glu)	PRIMPOL (Q50E)	Single nucleotide variant (missense variant +3 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 2528417	NM_152683.4(PRIMPOL):c.943A>C (p.Ile315Leu)	PRIMPOL (I83L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514638	NM_152683.4(PRIMPOL):c.1196G>A (p.Arg399His)	PRIMPOL (R167H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509199	NM_152683.4(PRIMPOL):c.932A>G (p.Lys311Arg)	PRIMPOL (K136R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2460680	NM_152683.4(PRIMPOL):c.853A>G (p.Thr285Ala)	PRIMPOL (T285A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408313	NM_152683.4(PRIMPOL):c.872G>A (p.Arg291Gln)	PRIMPOL (R116Q +3 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 2403173	NM_152683.4(PRIMPOL):c.524A>G (p.His175Arg)	PRIMPOL (H175R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
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 2372800	NM_152683.4(PRIMPOL):c.1049A>G (p.Gln350Arg)	PRIMPOL (Q175R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362180	NM_152683.4(PRIMPOL):c.1193G>A (p.Arg398Gln)	PRIMPOL (R165Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339574	NM_152683.4(PRIMPOL):c.697A>G (p.Met233Val)	PRIMPOL (M233V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313297	NM_152683.4(PRIMPOL):c.502C>T (p.Arg168Trp)	PRIMPOL (R168W +1 more)	Single nucleotide variant (missense variant +3 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 2255719	NM_152683.4(PRIMPOL):c.635C>T (p.Thr212Ile)	PRIMPOL (T83I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230814	NM_152683.4(PRIMPOL):c.617A>G (p.Asp206Gly)	PRIMPOL (D77G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222128	NM_152683.4(PRIMPOL):c.292C>T (p.His98Tyr)	PRIMPOL (H98Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2206076	NM_152683.4(PRIMPOL):c.1192C>T (p.Arg398Trp)	PRIMPOL (R166W +6 more)	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 785110	NM_152683.4(PRIMPOL):c.244A>G (p.Thr82Ala)	PRIMPOL (T82A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 723431	NM_152683.4(PRIMPOL):c.219T>C (p.Asp73=)	PRIMPOL	Single nucleotide variant (5 prime UTR variant +2 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

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