PRIMPOL[gene] - ClinVar - NCBI

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	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	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +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	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +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	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +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	ACSL1, ADAM29 +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	FLJ38576, FRG1 +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 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 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 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 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 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 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 723431	NM_152683.4(PRIMPOL):c.219T>C (p.Asp73=)	PRIMPOL	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
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 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 65424	NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp)	PRIMPOL (Y89D +1 more)	Single nucleotide variant (5 prime UTR variant +2 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 3034847	NM_152683.4(PRIMPOL):c.278+3A>G	PRIMPOL	Single nucleotide variant (intron variant)	PRIMPOL-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 3060235	NM_152683.4(PRIMPOL):c.948G>A (p.Gln316=)	PRIMPOL	Single nucleotide variant (synonymous variant +2 more)	PRIMPOL-related disorder	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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