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Did you mean PCSK9 as a gene symbol? Search ClinVar for PCSK9

See PCSK9 proprotein convertase subtilisin/kexin type 9 in the Gene database

Search results

Items: 1 to 100 of 6206

  • The following term was not found in ClinVar: Leu253Glu.
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:25870216
GRCh38:
Chr1:25543725
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemiaLikely benign
(Nov 15, 2019)
criteria provided, single submitterVCV000795424
2.
GRCh37:
Chr1:25870223
GRCh38:
Chr1:25543732
LDLRAP1I12VFamilial hypercholesterolemia, Familial hypercholesterolemia 4Uncertain significance
(Feb 7, 2018)
criteria provided, single submitterVCV000581619
3.
GRCh37:
Chr1:25870264
GRCh38:
Chr1:25543773
LDLRAP1Familial hypercholesterolemia, not provided, Familial hypercholesterolemia 4
Conflicting interpretations of pathogenicity
(Oct 26, 2020)
criteria provided, conflicting interpretationsVCV000296973
4.
GRCh37:
Chr1:25870267
GRCh38:
Chr1:25543776
LDLRAP1Familial hypercholesterolemia, Familial hypercholesterolemia 4Likely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000699049
5.
GRCh37:
Chr1:25880438
GRCh38:
Chr1:25553947
LDLRAP1Familial hypercholesterolemia, Familial hypercholesterolemia 4Likely benign
(Nov 18, 2020)
criteria provided, single submitterVCV000696641
6.
GRCh37:
Chr1:25880446
GRCh38:
Chr1:25553955
LDLRAP1T41MFamilial hypercholesterolemia, not provided, Familial hypercholesterolemia 4
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000646841
7.
GRCh37:
Chr1:25880465
GRCh38:
Chr1:25553974
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemia, not provided
Likely benign
(Oct 26, 2020)
criteria provided, single submitterVCV000705792
8.
GRCh37:
Chr1:25881467
GRCh38:
Chr1:25554976
LDLRAP1Familial hypercholesterolemia, not provided, Familial hypercholesterolemia 4
Conflicting interpretations of pathogenicity
(Jul 30, 2020)
criteria provided, conflicting interpretationsVCV000567026
9.
GRCh37:
Chr1:25883696
GRCh38:
Chr1:25557205
LDLRAP1A133TFamilial hypercholesterolemia 4, Familial hypercholesterolemiaUncertain significance
(Dec 22, 2018)
criteria provided, single submitterVCV000642366
10.
GRCh37:
Chr1:25883751
GRCh38:
Chr1:25557260
LDLRAP1R151QFamilial hypercholesterolemia 1, Familial hypercholesterolemia 4Uncertain significance
(Aug 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000684845
11.
GRCh37:
Chr1:25889626-25889627
GRCh38:
Chr1:25563135-25563136
LDLRAP1S202fsFamilial hypercholesterolemia, Familial hypercholesterolemia 4Pathogenic
(Dec 10, 2018)
criteria provided, single submitterVCV000004781
12.
GRCh37:
Chr1:25889632
GRCh38:
Chr1:25563141
LDLRAP1S202Pnot specified, Familial hypercholesterolemia, Familial hypercholesterolemia 4
Benign
(Jul 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000296982
13.
GRCh37:
Chr1:25889633
GRCh38:
Chr1:25563142
LDLRAP1S202YFamilial hypercholesterolemia, not provided, Familial hypercholesterolemia 4
Conflicting interpretations of pathogenicity
(May 24, 2021)
criteria provided, conflicting interpretationsVCV000004776
14.
GRCh37:
Chr1:25890156
GRCh38:
Chr1:25563665
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemiaLikely benign
(Apr 24, 2020)
criteria provided, single submitterVCV000699056
15.
GRCh37:
Chr1:25890161
GRCh38:
Chr1:25563670
LDLRAP1T209IFamilial hypercholesterolemia, Familial hypercholesterolemia 4Uncertain significance
(Dec 30, 2019)
criteria provided, single submitterVCV000468288
16.
GRCh37:
Chr1:25890180
GRCh38:
Chr1:25563689
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemiaLikely benign
(Nov 2, 2020)
criteria provided, single submitterVCV000704352
17.
GRCh37:
Chr1:25890189
GRCh38:
Chr1:25563698
LDLRAP1not specified, Familial hypercholesterolemia 4, Familial hypercholesterolemia
Benign
(Jul 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000296984
18.
GRCh37:
Chr1:25890191
GRCh38:
Chr1:25563700
LDLRAP1A219GFamilial hypercholesterolemiaUncertain significance
(Aug 15, 2020)
no assertion criteria providedVCV000991801
19.
GRCh37:
Chr1:25890207
GRCh38:
Chr1:25563716
LDLRAP1not provided, Familial hypercholesterolemia 4, Familial hypercholesterolemia
Conflicting interpretations of pathogenicity
(Dec 6, 2020)
criteria provided, conflicting interpretationsVCV000296985
20.
GRCh37:
Chr1:25890217
GRCh38:
Chr1:25563726
LDLRAP1A228TFamilial hypercholesterolemia, not providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitterVCV000453082
21.
GRCh37:
Chr1:25890245
GRCh38:
Chr1:25563754
LDLRAP1P237LFamilial hypercholesterolemia 4, Familial hypercholesterolemiaUncertain significance
(Dec 4, 2018)
criteria provided, single submitterVCV000641308
22.
GRCh37:
Chr1:25890247
GRCh38:
Chr1:25563756
LDLRAP1R238WFamilial hypercholesterolemia, not provided, not specified,
Familial hypercholesterolemia 4
Conflicting interpretations of pathogenicity
(Jun 10, 2021)
criteria provided, conflicting interpretationsVCV000296986
23.
GRCh37:
Chr1:25893417
GRCh38:
Chr1:25566926
LDLRAP1Familial hypercholesterolemia, Familial hypercholesterolemia 4Benign/Likely benign
(Nov 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000296987
24.
GRCh37:
Chr1:25893928
GRCh38:
Chr1:25567437
LDLRAP1Familial hypercholesterolemia 1Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000296993
25.
GRCh37:
Chr1:25894248-25894249
GRCh38:
Chr1:25567757-25567758
LDLRAP1Familial hypercholesterolemia 1Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000296998
26.
GRCh37:
Chr1:25894468-25894469
GRCh38:
Chr1:25567977-25567978
LDLRAP1Familial hypercholesterolemia 1Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000297006
27.
GRCh37:
Chr1:25895196
GRCh38:
Chr1:25568705
LDLRAP1Familial hypercholesterolemia 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297019
28.
GRCh37:
Chr1:53061024-77233450
GRCh38:
Chr1:52595352-76767765
ACADM, AK4, C8A, C8B, CPT2, CRYZ, CTH, CYP2J2, DAB1, GADD45A, DHCR24, DIO1, GPX7, IL12RB2, JAK1, JUN, LEPR, TACSTD2, MAGOH, MSH4, NFIA, ROR1, PDE4B, PGM1, PRKAA2, PTGER3, RABGGTB, RPE65, SCP2, SLC1A7, TTC4, USP1, LRP8, BSND, PLPP3, FPGT, DIRAS3, SRSF11, ZRANB2, TMEM59, DNAJC6, INSL5, PATJ, HHLA3, SLC35D1, USP24, ITGB3BP, SSBP3, PARS2, ACOT11, SERBP1, SNORD45B, SNORD45A, FOXD3, ANGPTL3, ALG6, TNNI3K, MRPL37, HOOK1, HSPB11, YIPF1, L1TD1, LEPROT, CZIB, TTC22, RAVER2, ECHDC2, FGGY, LRRC40, DEPDC1, NDC1, GNG12, LRRC7, CACHD1, MIER1, DMRTB1, COA7, DLEU2L, ZYG11B, DNAI4, WLS, ANKRD13C, TM2D1, SGIP1, EFCAB7, ATG4C, DOCK7, MYSM1, OMA1, LRRC42, ASB17, TYW3, ERICH3, LRRIQ3, TCEANC2, PODN, C1orf87, UBE2U, GLIS1, IL23R, LEXM, KANK4, LINC00466, FYB2, TMEM61, CDCP2, DYNLT5, SLC44A5, PCSK9, ST6GALNAC3, NEGR1, FAM151A, LINC02796, SHISAL2A, MROH7, LDLRAD1, C1orf141, MIR101-1, MIR186, LHX8, ZYG11A, CYB5RL, SSBP3-AS1, NFIA-AS1, SNORD45C, HSD52, LINC01135, ZRANB2-AS1, GNG12-AS1, MIR1262, MIR3117, MIR3116-1, MIR3116-2, MIR3671, LOC100507564, LOC100507634, FPGT-TNNI3K, MROH7-TTC4, MIR1273G, MIR1273F, MIR4422, MIR4781, MIR4794, MIR4711, MIR5095, NEGR1-IT1, ZRANB2-AS2, FOXD3-AS1, NFIA-AS2, DAB1-AS1, LINC01358, LOC101926944, LOC101926964, ROR1-AS1, LINC01359, PDE4B-AS1, DEPDC1-AS1, LINC01788, LINC01360, ERICH3-AS1, LOC101927342, LOC101929935, MIR6068, HHLA3-AS1, LINC01771, LINC02784, LINC01755, LINC01753, LINC01767, LINC02777, LINC01748, LINC01739, LINC01707, LINC02791, LINC01758, LRRC7-AS1, LRRC53, LOC107983962, TRK-CTT7-1, MIR4422HG, LINC02238, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LINC02567, LOC111501769, LOC112590804, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, MIR12132, LOC114827846, LOC115801429, LOC115801430, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC120893141
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058079
29.
GRCh37:
Chr1:53253175-67805556
GRCh38:
Chr1:52787503-67339873
See casesLikely pathogenic
(May 7, 2013)
no assertion criteria providedVCV000153325
30.
GRCh37:
Chr1:54092945-64714537
GRCh38:
Chr1:53627272-64248854
See casesPathogenic
(Jul 5, 2011)
no assertion criteria providedVCV000150647
31.
GRCh37:
Chr1:54203885-61905320
GRCh38:
Chr1:53738212-61439648
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059968
32.
GRCh37:
Chr1:55504650
GRCh38:
Chr1:55038977
PCSK9Familial hypercholesterolemia 1Benign
(Aug 23, 2017)
criteria provided, single submitterVCV000440703
33.
GRCh37:
Chr1:55505158
GRCh38:
Chr1:55039485
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297683
34.
GRCh37:
Chr1:55505165
GRCh38:
Chr1:55039492
PCSK9Familial hypercholesterolemia 3, HypobetalipoproteinemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297684
35.
GRCh37:
Chr1:55505180
GRCh38:
Chr1:55039507
PCSK9Familial hypercholesterolemia 3, Familial hypercholesterolemia 1, Hypobetalipoproteinemia,
not provided
Uncertain significance
(Feb 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000438331
36.
GRCh37:
Chr1:55505224
GRCh38:
Chr1:55039551
PCSK9Familial hypercholesterolemia 1, Hypobetalipoproteinemia, Familial hypercholesterolemia 3
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000265911
37.
GRCh37:
Chr1:55505266
GRCh38:
Chr1:55039593
PCSK9Familial hypercholesterolemia 3, HypobetalipoproteinemiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297685
38.
GRCh37:
Chr1:55505266
GRCh38:
Chr1:55039593
PCSK9Familial hypercholesterolemia 1, Hypobetalipoproteinemia, Familial hypercholesterolemia 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000265912
39.
GRCh37:
Chr1:55505274
GRCh38:
Chr1:55039601
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297686
40.
GRCh37:
Chr1:55505290
GRCh38:
Chr1:55039617
PCSK9Familial hypobetalipoproteinemia, Familial hypercholesterolemia 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297687
41.
GRCh37:
Chr1:55505311
GRCh38:
Chr1:55039638
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297688
42.
GRCh37:
Chr1:55505326
GRCh38:
Chr1:55039653
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297689
43.
GRCh37:
Chr1:55505331
GRCh38:
Chr1:55039658
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297690
44.
GRCh37:
Chr1:55505343
GRCh38:
Chr1:55039670
PCSK9Familial hypercholesterolemia 1Benignno assertion criteria providedVCV000440704
45.
GRCh37:
Chr1:55505371
GRCh38:
Chr1:55039698
PCSK9Familial hypercholesterolemia 3, HypobetalipoproteinemiaConflicting interpretations of pathogenicity
(Apr 28, 2017)
criteria provided, conflicting interpretationsVCV000876359
46.
GRCh37:
Chr1:55505438
GRCh38:
Chr1:55039765
PCSK9Familial hypercholesterolemia 1Uncertain significance
(Mar 1, 2016)
criteria provided, single submitterVCV000265913
47.
GRCh37:
Chr1:55505443
GRCh38:
Chr1:55039770
PCSK9Familial hypercholesterolemia 3, HypobetalipoproteinemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874402
48.
GRCh37:
Chr1:55505444
GRCh38:
Chr1:55039771
PCSK9Familial hypercholesterolemia 1Uncertain significance
(Mar 1, 2016)
criteria provided, single submitterVCV000265914
49.
GRCh37:
Chr1:55505447
GRCh38:
Chr1:55039774
PCSK9Familial hypercholesterolemia 1, Hypobetalipoproteinemia, Familial hypercholesterolemia 3
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000036666
50.
GRCh37:
Chr1:55505485
GRCh38:
Chr1:55039812
PCSK9Familial hypercholesterolemia 3, HypobetalipoproteinemiaBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000297691
51.
GRCh37:
Chr1:55505502
GRCh38:
Chr1:55039829
PCSK9Familial hypercholesterolemiaLikely benign
(Mar 12, 2018)
criteria provided, single submitterVCV000627976
52.
GRCh37:
Chr1:55505503
GRCh38:
Chr1:55039830
PCSK9Familial hypercholesterolemia 1, Familial hypercholesterolemiaConflicting interpretations of pathogenicity
(Mar 23, 2018)
criteria provided, conflicting interpretationsVCV000265915
53.
GRCh37:
Chr1:55505512
GRCh38:
Chr1:55039839
PCSK9M1RFamilial hypercholesterolemiaUncertain significance
(Jun 24, 2019)
criteria provided, single submitterVCV000919992
54.
GRCh37:
Chr1:55505516
GRCh38:
Chr1:55039843
PCSK9Familial hypercholesterolemiaLikely benign
(Apr 20, 2019)
criteria provided, single submitterVCV000919978
55.
GRCh37:
Chr1:55505519
GRCh38:
Chr1:55039846
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 16, 2018)
criteria provided, single submitterVCV000630657
56.
GRCh37:
Chr1:55505520
GRCh38:
Chr1:55039847
PCSK9V4LFamilial hypercholesterolemiaUncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000920919
57.
GRCh37:
Chr1:55505520
GRCh38:
Chr1:55039847
PCSK9V4IFamilial hypercholesterolemia 3, Familial hypercholesterolemia 1, Familial hypercholesterolemia
Conflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000492230
58.
GRCh37:
Chr1:55505527
GRCh38:
Chr1:55039854
PCSK9S6FFamilial hypercholesterolemiaUncertain significance
(Nov 1, 2019)
criteria provided, single submitterVCV000926307
59.
GRCh37:
Chr1:55505532
GRCh38:
Chr1:55039859
PCSK9R8WFamilial hypercholesterolemiaUncertain significance
(Sep 24, 2018)
criteria provided, single submitterVCV000628031
60.
GRCh37:
Chr1:55505537
GRCh38:
Chr1:55039864
PCSK9Familial hypercholesterolemia, Familial hypercholesterolemia 3Likely benign
(Sep 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000696661
61.
GRCh37:
Chr1:55505544
GRCh38:
Chr1:55039871
PCSK9P12TFamilial hypercholesterolemiaUncertain significance
(Jan 8, 2019)
criteria provided, single submitterVCV000922275
62.
GRCh37:
Chr1:55505545
GRCh38:
Chr1:55039872
PCSK9P12LFamilial hypercholesterolemia 3, Familial hypercholesterolemiaUncertain significance
(Jul 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000927406
63.
GRCh37:
Chr1:55505546
GRCh38:
Chr1:55039873
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 9, 2019)
criteria provided, single submitterVCV000927682
64.
GRCh37:
Chr1:55505550
GRCh38:
Chr1:55039877
PCSK9P14SFamilial hypercholesterolemiaUncertain significance
(Nov 11, 2018)
criteria provided, single submitterVCV000922622
65.
GRCh37:
Chr1:55505552-55505554
GRCh38:
Chr1:55039879-55039881
PCSK9L23delFamilial hypercholesterolemiaLikely benign
(Mar 19, 2018)
criteria provided, single submitterVCV000924119
66.
GRCh37:
Chr1:55505552-55505560
GRCh38:
Chr1:55039879-55039887
PCSK9Familial hypercholesterolemia, Familial hypercholesterolemia 3Conflicting interpretations of pathogenicity
(Mar 6, 2020)
criteria provided, conflicting interpretationsVCV000922063
67.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia 3, not provided, Familial hypercholesterolemia
Uncertain significance
(Sep 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000662731
68.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia, not specified, not provided,
Familial hypercholesterolemia 3
Conflicting interpretations of pathogenicity
(Sep 26, 2019)
criteria provided, conflicting interpretationsVCV000597379
69.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9L15fsFamilial hypercholesterolemia 1Pathogenic
(Mar 1, 2016)
criteria provided, single submitterVCV000431555
70.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia 3, not specified, not provided,
Familial hypercholesterolemia 1, Familial hypercholesterolemia
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000265916
71.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia 3, Familial hypercholesterolemia, not specified,
not provided, Familial hypercholesterolemia 1
Benign/Likely benign
(Dec 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000235043
72.
GRCh37:
Chr1:55505553-55505554
GRCh38:
Chr1:55039880-55039881
PCSK9none providedLikely benign
(Jun 19, 2020)
criteria provided, single submitterVCV000993399
73.
GRCh37:
Chr1:55505553-55505561
GRCh38:
Chr1:55039880-55039888
PCSK9Familial hypercholesterolemiaUncertain significance
(Nov 30, 2018)
criteria provided, single submitterVCV000924740
74.
GRCh37:
Chr1:55505553-55505554
GRCh38:
Chr1:55039880-55039881
PCSK9Familial hypercholesterolemiaUncertain significance
(Sep 24, 2018)
criteria provided, single submitterVCV000628057
75.
GRCh37:
Chr1:55505553-55505558
GRCh38:
Chr1:55039880-55039885
PCSK9Familial hypercholesterolemiaLikely benign
(Jan 11, 2018)
criteria provided, single submitterVCV000627764
76.
GRCh37:
Chr1:55505553-55505555
GRCh38:
Chr1:55039880-55039882
PCSK9L23delnot provided, Familial hypercholesterolemia 1, not specified,
Familial hypercholesterolemia 3
Conflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000265917
77.
GRCh37:
Chr1:55505575
GRCh38:
Chr1:55039902
PCSK9L22PFamilial hypercholesterolemiaUncertain significance
(Nov 22, 2019)
criteria provided, single submitterVCV000927084
78.
GRCh37:
Chr1:55505576
GRCh38:
Chr1:55039903
PCSK9Familial hypercholesterolemiaLikely benign
(Aug 3, 2017)
criteria provided, single submitterVCV000630623
79.
GRCh37:
Chr1:55505580
GRCh38:
Chr1:55039907
PCSK9G24SFamilial hypercholesterolemiaUncertain significance
(May 11, 2019)
criteria provided, single submitterVCV000927151
80.
GRCh37:
Chr1:55505586
GRCh38:
Chr1:55039913
PCSK9A26TFamilial hypercholesterolemia 1Pathogenicno assertion criteria providedVCV000440705
81.
GRCh37:
Chr1:55505587
GRCh38:
Chr1:55039914
PCSK9A26VFamilial hypercholesterolemiaUncertain significance
(Oct 24, 2019)
criteria provided, single submitterVCV000923225
82.
GRCh37:
Chr1:55505590
GRCh38:
Chr1:55039917
PCSK9G27AFamilial hypercholesterolemiaUncertain significance
(Apr 29, 2019)
criteria provided, single submitterVCV000920118
83.
GRCh37:
Chr1:55505591
GRCh38:
Chr1:55039918
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV000920368
84.
GRCh37:
Chr1:55505593
GRCh38:
Chr1:55039920
PCSK9R29fsFamilial hypercholesterolemia 1, not providedPathogenic/Likely pathogenic
(Apr 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000496566
85.
GRCh37:
Chr1:55505594
GRCh38:
Chr1:55039921
PCSK9Familial hypercholesterolemiaLikely benign
(Feb 12, 2021)
criteria provided, single submitterVCV001171705
86.
GRCh37:
Chr1:55505595
GRCh38:
Chr1:55039922
PCSK9R29CFamilial hypercholesterolemiaUncertain significance
(Feb 4, 2019)
criteria provided, single submitterVCV000920809
87.
GRCh37:
Chr1:55505595
GRCh38:
Chr1:55039922
PCSK9R29GFamilial hypercholesterolemia 3, HypobetalipoproteinemiaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000874403
88.
GRCh37:
Chr1:55505599
GRCh38:
Chr1:55039926
PCSK9A30EFamilial hypercholesterolemiaUncertain significance
(Dec 5, 2018)
criteria provided, single submitterVCV000925777
89.
GRCh37:
Chr1:55505600
GRCh38:
Chr1:55039927
PCSK9Familial hypercholesterolemiaLikely benign
(Nov 11, 2018)
criteria provided, single submitterVCV000918647
90.
GRCh37:
Chr1:55505603-55505604
GRCh38:
Chr1:55039930-55039931
PCSK9Familial hypercholesterolemia, Familial hypercholesterolemia 3Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000698635
91.
GRCh37:
Chr1:55505604
GRCh38:
Chr1:55039931
PCSK9E32KFamilial hypercholesterolemia 1, Familial hypercholesterolemia, Homozygous familial hypercholesterolemia,
Hypobetalipoproteinemia, Familial hypercholesterolemia 3
Conflicting interpretations of pathogenicity
(Sep 16, 2020)
criteria provided, conflicting interpretationsVCV000297692
92.
GRCh37:
Chr1:55505606
GRCh38:
Chr1:55039933
PCSK9Familial hypercholesterolemia 3Likely benign
(May 13, 2019)
criteria provided, single submitterVCV001107385
93.
GRCh37:
Chr1:55505607
GRCh38:
Chr1:55039934
PCSK9D33NFamilial hypercholesterolemiaUncertain significance
(May 15, 2019)
criteria provided, single submitterVCV000927338
94.
GRCh37:
Chr1:55505610
GRCh38:
Chr1:55039937
PCSK9E34KHypobetalipoproteinemia, Familial hypercholesterolemia, Familial hypercholesterolemia 3
Uncertain significance
(Nov 14, 2019)
criteria provided, multiple submitters, no conflictsVCV000536202
95.
GRCh37:
Chr1:55505613
GRCh38:
Chr1:55039940
PCSK9D35YFamilial hypercholesterolemia 3, Familial hypercholesterolemiaConflicting interpretations of pathogenicity
(May 24, 2021)
criteria provided, conflicting interpretationsVCV000375848
96.
GRCh37:
Chr1:55505615
GRCh38:
Chr1:55039942
PCSK9Familial hypercholesterolemiaLikely benign
(Oct 26, 2020)
criteria provided, single submitterVCV001172035
97.
GRCh37:
Chr1:55505616
GRCh38:
Chr1:55039943
PCSK9G36SFamilial hypercholesterolemia, Familial hypercholesterolemia 3Uncertain significance
(Oct 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000921570
98.
GRCh37:
Chr1:55505625
GRCh38:
Chr1:55039952
PCSK9E39KFamilial hypercholesterolemiaUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV000921571
99.
GRCh37:
Chr1:55505628
GRCh38:
Chr1:55039955
PCSK9E40KFamilial hypercholesterolemia 3Uncertain significance
(Aug 6, 2019)
criteria provided, single submitterVCV000852560
100.
GRCh37:
Chr1:55505633
GRCh38:
Chr1:55039960
PCSK9Familial hypercholesterolemiaLikely benign
(Feb 25, 2019)
criteria provided, single submitterVCV000924640
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