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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
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
2.
GRCh37:
Chr1:53253175-67805556
GRCh38:
Chr1:52787503-67339873
See casesLikely pathogenic
(May 7, 2013)
no assertion criteria providedVCV000153325
3.
GRCh37:
Chr1:54092945-64714537
GRCh38:
Chr1:53627272-64248854
See casesPathogenic
(Jul 5, 2011)
no assertion criteria providedVCV000150647
4.
GRCh37:
Chr1:54203885-61905320
GRCh38:
Chr1:53738212-61439648
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059968
5.
GRCh37:
Chr1:55504650
GRCh38:
Chr1:55038977
PCSK9Familial hypercholesterolemia 1Benign
(Aug 23, 2017)
criteria provided, single submitterVCV000440703
6.
GRCh37:
Chr1:55505158
GRCh38:
Chr1:55039485
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297683
7.
GRCh37:
Chr1:55505165
GRCh38:
Chr1:55039492
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297684
8.
GRCh37:
Chr1:55505180
GRCh38:
Chr1:55039507
PCSK9Familial hypercholesterolemia 1, not provided, Familial hypercholesterolemia 3,
Hypobetalipoproteinemia
Uncertain significance
(Feb 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000438331
9.
GRCh37:
Chr1:55505224
GRCh38:
Chr1:55039551
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 1, Familial hypercholesterolemia 3
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000265911
10.
GRCh37:
Chr1:55505266
GRCh38:
Chr1:55039593
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297685
11.
GRCh37:
Chr1:55505266
GRCh38:
Chr1:55039593
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 1, Familial hypercholesterolemia 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000265912
12.
GRCh37:
Chr1:55505274
GRCh38:
Chr1:55039601
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297686
13.
GRCh37:
Chr1:55505290
GRCh38:
Chr1:55039617
PCSK9Familial hypobetalipoproteinemia, Familial hypercholesterolemia 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297687
14.
GRCh37:
Chr1:55505311
GRCh38:
Chr1:55039638
PCSK9Familial hypobetalipoproteinemia, Familial hypercholesterolemia 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297688
15.
GRCh37:
Chr1:55505326
GRCh38:
Chr1:55039653
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297689
16.
GRCh37:
Chr1:55505331
GRCh38:
Chr1:55039658
PCSK9Familial hypercholesterolemia 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297690
17.
GRCh37:
Chr1:55505343
GRCh38:
Chr1:55039670
PCSK9Familial hypercholesterolemia 1Benignno assertion criteria providedVCV000440704
18.
GRCh37:
Chr1:55505371
GRCh38:
Chr1:55039698
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 3Conflicting interpretations of pathogenicity
(Apr 28, 2017)
criteria provided, conflicting interpretationsVCV000876359
19.
GRCh37:
Chr1:55505438
GRCh38:
Chr1:55039765
PCSK9Familial hypercholesterolemia 1Uncertain significance
(Mar 1, 2016)
criteria provided, single submitterVCV000265913
20.
GRCh37:
Chr1:55505443
GRCh38:
Chr1:55039770
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874402
21.
GRCh37:
Chr1:55505444
GRCh38:
Chr1:55039771
PCSK9Familial hypercholesterolemia 1Uncertain significance
(Mar 1, 2016)
criteria provided, single submitterVCV000265914
22.
GRCh37:
Chr1:55505447
GRCh38:
Chr1:55039774
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 1, Familial hypercholesterolemia 3
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000036666
23.
GRCh37:
Chr1:55505485
GRCh38:
Chr1:55039812
PCSK9Hypobetalipoproteinemia, Familial hypercholesterolemia 3Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000297691
24.
GRCh37:
Chr1:55505502
GRCh38:
Chr1:55039829
PCSK9Familial hypercholesterolemiaLikely benign
(Mar 12, 2018)
criteria provided, single submitterVCV000627976
25.
GRCh37:
Chr1:55505503
GRCh38:
Chr1:55039830
PCSK9Familial hypercholesterolemia 1, Familial hypercholesterolemiaConflicting interpretations of pathogenicity
(Mar 23, 2018)
criteria provided, conflicting interpretationsVCV000265915
26.
GRCh37:
Chr1:55505512
GRCh38:
Chr1:55039839
PCSK9M1RFamilial hypercholesterolemiaUncertain significance
(Jun 24, 2019)
criteria provided, single submitterVCV000919992
27.
GRCh37:
Chr1:55505516
GRCh38:
Chr1:55039843
PCSK9Familial hypercholesterolemiaLikely benign
(Apr 20, 2019)
criteria provided, single submitterVCV000919978
28.
GRCh37:
Chr1:55505519
GRCh38:
Chr1:55039846
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 16, 2018)
criteria provided, single submitterVCV000630657
29.
GRCh37:
Chr1:55505520
GRCh38:
Chr1:55039847
PCSK9V4LFamilial hypercholesterolemiaUncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000920919
30.
GRCh37:
Chr1:55505520
GRCh38:
Chr1:55039847
PCSK9V4IFamilial hypercholesterolemia 3, Familial hypercholesterolemia, Familial hypercholesterolemia 1
Conflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000492230
31.
GRCh37:
Chr1:55505527
GRCh38:
Chr1:55039854
PCSK9S6FFamilial hypercholesterolemiaUncertain significance
(Nov 1, 2019)
criteria provided, single submitterVCV000926307
32.
GRCh37:
Chr1:55505532
GRCh38:
Chr1:55039859
PCSK9R8WFamilial hypercholesterolemiaUncertain significance
(Sep 24, 2018)
criteria provided, single submitterVCV000628031
33.
GRCh37:
Chr1:55505537
GRCh38:
Chr1:55039864
PCSK9Familial hypercholesterolemia, Familial hypercholesterolemia 3Likely benign
(Sep 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000696661
34.
GRCh37:
Chr1:55505544
GRCh38:
Chr1:55039871
PCSK9P12TFamilial hypercholesterolemiaUncertain significance
(Jan 8, 2019)
criteria provided, single submitterVCV000922275
35.
GRCh37:
Chr1:55505545
GRCh38:
Chr1:55039872
PCSK9P12LFamilial hypercholesterolemia, Familial hypercholesterolemia 3Uncertain significance
(Jul 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000927406
36.
GRCh37:
Chr1:55505546
GRCh38:
Chr1:55039873
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 9, 2019)
criteria provided, single submitterVCV000927682
37.
GRCh37:
Chr1:55505550
GRCh38:
Chr1:55039877
PCSK9P14SFamilial hypercholesterolemiaUncertain significance
(Nov 11, 2018)
criteria provided, single submitterVCV000922622
38.
GRCh37:
Chr1:55505552-55505554
GRCh38:
Chr1:55039879-55039881
PCSK9L23delFamilial hypercholesterolemiaLikely benign
(Mar 19, 2018)
criteria provided, single submitterVCV000924119
39.
GRCh37:
Chr1:55505552-55505560
GRCh38:
Chr1:55039879-55039887
PCSK9Familial hypercholesterolemia, Familial hypercholesterolemia 3Conflicting interpretations of pathogenicity
(Mar 6, 2020)
criteria provided, conflicting interpretationsVCV000922063
40.
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
41.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia 3, not provided, Familial hypercholesterolemia,
not specified
Conflicting interpretations of pathogenicity
(Sep 26, 2019)
criteria provided, conflicting interpretationsVCV000597379
42.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9L15fsFamilial hypercholesterolemia 1Pathogenic
(Mar 1, 2016)
criteria provided, single submitterVCV000431555
43.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia, not specified, Familial hypercholesterolemia 1,
Familial hypercholesterolemia 3, not provided
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000265916
44.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia, not specified, Familial hypercholesterolemia 1,
not provided, Familial hypercholesterolemia 3
Benign/Likely benign
(Dec 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000235043
45.
GRCh37:
Chr1:55505553-55505554
GRCh38:
Chr1:55039880-55039881
PCSK9none providedLikely benign
(Jun 19, 2020)
criteria provided, single submitterVCV000993399
46.
GRCh37:
Chr1:55505553-55505561
GRCh38:
Chr1:55039880-55039888
PCSK9Familial hypercholesterolemiaUncertain significance
(Nov 30, 2018)
criteria provided, single submitterVCV000924740
47.
GRCh37:
Chr1:55505553-55505554
GRCh38:
Chr1:55039880-55039881
PCSK9Familial hypercholesterolemiaUncertain significance
(Sep 24, 2018)
criteria provided, single submitterVCV000628057
48.
GRCh37:
Chr1:55505553-55505558
GRCh38:
Chr1:55039880-55039885
PCSK9Familial hypercholesterolemiaLikely benign
(Jan 11, 2018)
criteria provided, single submitterVCV000627764
49.
GRCh37:
Chr1:55505553-55505555
GRCh38:
Chr1:55039880-55039882
PCSK9L23delFamilial hypercholesterolemia 1, not specified, not provided,
Familial hypercholesterolemia 3
Conflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000265917
50.
GRCh37:
Chr1:55505575
GRCh38:
Chr1:55039902
PCSK9L22PFamilial hypercholesterolemiaUncertain significance
(Nov 22, 2019)
criteria provided, single submitterVCV000927084
51.
GRCh37:
Chr1:55505576
GRCh38:
Chr1:55039903
PCSK9Familial hypercholesterolemiaLikely benign
(Aug 3, 2017)
criteria provided, single submitterVCV000630623
52.
GRCh37:
Chr1:55505580
GRCh38:
Chr1:55039907
PCSK9G24SFamilial hypercholesterolemiaUncertain significance
(May 11, 2019)
criteria provided, single submitterVCV000927151
53.
GRCh37:
Chr1:55505586
GRCh38:
Chr1:55039913
PCSK9A26TFamilial hypercholesterolemia 1Pathogenicno assertion criteria providedVCV000440705
54.
GRCh37:
Chr1:55505587
GRCh38:
Chr1:55039914
PCSK9A26VFamilial hypercholesterolemiaUncertain significance
(Oct 24, 2019)
criteria provided, single submitterVCV000923225
55.
GRCh37:
Chr1:55505590
GRCh38:
Chr1:55039917
PCSK9G27AFamilial hypercholesterolemiaUncertain significance
(Apr 29, 2019)
criteria provided, single submitterVCV000920118
56.
GRCh37:
Chr1:55505591
GRCh38:
Chr1:55039918
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV000920368
57.
GRCh37:
Chr1:55505593
GRCh38:
Chr1:55039920
PCSK9R29fsFamilial hypercholesterolemia 1, not providedPathogenic/Likely pathogenic
(Apr 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000496566
58.
GRCh37:
Chr1:55505594
GRCh38:
Chr1:55039921
PCSK9Familial hypercholesterolemiaLikely benign
(Feb 12, 2021)
criteria provided, single submitterVCV001171705
59.
GRCh37:
Chr1:55505595
GRCh38:
Chr1:55039922
PCSK9R29CFamilial hypercholesterolemiaUncertain significance
(Feb 4, 2019)
criteria provided, single submitterVCV000920809
60.
GRCh37:
Chr1:55505595
GRCh38:
Chr1:55039922
PCSK9R29GHypobetalipoproteinemia, Familial hypercholesterolemia 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000874403
61.
GRCh37:
Chr1:55505599
GRCh38:
Chr1:55039926
PCSK9A30EFamilial hypercholesterolemiaUncertain significance
(Dec 5, 2018)
criteria provided, single submitterVCV000925777
62.
GRCh37:
Chr1:55505600
GRCh38:
Chr1:55039927
PCSK9Familial hypercholesterolemiaLikely benign
(Nov 11, 2018)
criteria provided, single submitterVCV000918647
63.
GRCh37:
Chr1:55505603-55505604
GRCh38:
Chr1:55039930-55039931
PCSK9Familial hypercholesterolemia 3, Familial hypercholesterolemiaLikely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000698635
64.
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
65.
GRCh37:
Chr1:55505606
GRCh38:
Chr1:55039933
PCSK9Familial hypercholesterolemia 3Likely benign
(May 13, 2019)
criteria provided, single submitterVCV001107385
66.
GRCh37:
Chr1:55505607
GRCh38:
Chr1:55039934
PCSK9D33NFamilial hypercholesterolemiaUncertain significance
(May 15, 2019)
criteria provided, single submitterVCV000927338
67.
GRCh37:
Chr1:55505610
GRCh38:
Chr1:55039937
PCSK9E34KFamilial hypercholesterolemia, Hypobetalipoproteinemia, Familial hypercholesterolemia 3
Uncertain significance
(Nov 14, 2019)
criteria provided, multiple submitters, no conflictsVCV000536202
68.
GRCh37:
Chr1:55505613
GRCh38:
Chr1:55039940
PCSK9D35YFamilial hypercholesterolemia 3, Familial hypercholesterolemiaConflicting interpretations of pathogenicity
(May 24, 2021)
criteria provided, conflicting interpretationsVCV000375848
69.
GRCh37:
Chr1:55505615
GRCh38:
Chr1:55039942
PCSK9Familial hypercholesterolemiaLikely benign
(Oct 26, 2020)
criteria provided, single submitterVCV001172035
70.
GRCh37:
Chr1:55505616
GRCh38:
Chr1:55039943
PCSK9G36SFamilial hypercholesterolemia, Familial hypercholesterolemia 3Uncertain significance
(Oct 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000921570
71.
GRCh37:
Chr1:55505625
GRCh38:
Chr1:55039952
PCSK9E39KFamilial hypercholesterolemiaUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV000921571
72.
GRCh37:
Chr1:55505628
GRCh38:
Chr1:55039955
PCSK9E40KFamilial hypercholesterolemia 3Uncertain significance
(Aug 6, 2019)
criteria provided, single submitterVCV000852560
73.
GRCh37:
Chr1:55505633
GRCh38:
Chr1:55039960
PCSK9Familial hypercholesterolemiaLikely benign
(Feb 25, 2019)
criteria provided, single submitterVCV000924640
74.
GRCh37:
Chr1:55505636
GRCh38:
Chr1:55039963
PCSK9Familial hypercholesterolemia, Familial hypercholesterolemia 3Likely benign
(Sep 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000536213
75.
GRCh37:
Chr1:55505642
GRCh38:
Chr1:55039969
PCSK9Familial hypercholesterolemiaLikely benign
(Aug 28, 2017)
criteria provided, single submitterVCV000630633
76.
GRCh37:
Chr1:55505646
GRCh38:
Chr1:55039973
PCSK9R46CFamilial hypercholesterolemiaUncertain significance
(Oct 18, 2018)
criteria provided, single submitterVCV000630138
77.
GRCh37:
Chr1:55505647
GRCh38:
Chr1:55039974
PCSK9R46Lnot specified, Hypocholesterolemia, Familial hypercholesterolemia 3,
Low density lipoprotein cholesterol level quantitative trait locus 1, Familial hypercholesterolemia, not provided,
Familial hypercholesterolemia 1, Hypobetalipoproteinemia
Benign/Likely benign
(Dec 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000002878
78.
GRCh37:
Chr1:55505650
GRCh38:
Chr1:55039977
PCSK9S47CFamilial hypercholesterolemia 1Pathogenicno assertion criteria providedVCV000440706
79.
GRCh37:
Chr1:55505651
GRCh38:
Chr1:55039978
PCSK9not specified, not provided, Hypobetalipoproteinemia,
Familial hypercholesterolemia 3, Familial hypercholesterolemia 1
Conflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000262902
80.
GRCh37:
Chr1:55505652
GRCh38:
Chr1:55039979
PCSK9E48*Familial hypercholesterolemiaLikely benign
(Sep 30, 2019)
criteria provided, single submitterVCV000927517
81.
GRCh37:
Chr1:55505652
GRCh38:
Chr1:55039979
PCSK9E48KFamilial hypercholesterolemia 3, Familial hypercholesterolemia 1, Familial hypercholesterolemia,
not provided
Uncertain significance
(Jan 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000440707
82.
GRCh37:
Chr1:55505657
GRCh38:
Chr1:55039984
PCSK9Familial hypercholesterolemia 3Likely benign
(Mar 22, 2019)
criteria provided, single submitterVCV001139726
83.
GRCh37:
Chr1:55505666
GRCh38:
Chr1:55039993
PCSK9Familial hypercholesterolemia 3Likely benign
(Aug 15, 2019)
criteria provided, single submitterVCV001119136
84.
GRCh37:
Chr1:55505666-55505668
GRCh38:
Chr1:55039993-55039995
PCSK9A53VFamilial hypercholesterolemiaLikely benign
(Dec 2, 2019)
criteria provided, single submitterVCV000925547
85.
GRCh37:
Chr1:55505666
GRCh38:
Chr1:55039993
PCSK9Familial hypercholesterolemiaLikely benign
(Aug 2, 2019)
criteria provided, single submitterVCV000921063
86.
GRCh37:
Chr1:55505668
GRCh38:
Chr1:55039995
PCSK9A53GFamilial hypercholesterolemia, Familial hypercholesterolemia 1, Familial hypercholesterolemia 3,
not specified, Hypobetalipoproteinemia
Uncertain significance
(Jul 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000440708
87.
GRCh37:
Chr1:55505668
GRCh38:
Chr1:55039995
PCSK9A53VFamilial hypercholesterolemia 3, Hypobetalipoproteinemia, not specified,
Familial hypercholesterolemia 1
Benign/Likely benign
(Dec 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000036669
88.
GRCh37:
Chr1:55505669
GRCh38:
Chr1:55039996
PCSK9Familial hypercholesterolemiaLikely benign
(Mar 2, 2020)
criteria provided, single submitterVCV000921572
89.
GRCh37:
Chr1:55505674
GRCh38:
Chr1:55040001
PCSK9A55VFamilial hypercholesterolemiaUncertain significance
(Jan 8, 2019)
criteria provided, single submitterVCV000925334
90.
GRCh37:
Chr1:55505675
GRCh38:
Chr1:55040002
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 15, 2019)
criteria provided, single submitterVCV000922539
91.
GRCh37:
Chr1:55505676
GRCh38:
Chr1:55040003
PCSK9P56SFamilial hypercholesterolemiaUncertain significance
(Sep 24, 2018)
criteria provided, single submitterVCV000630139
92.
GRCh37:
Chr1:55505678
GRCh38:
Chr1:55040005
PCSK9Familial hypercholesterolemiaLikely benign
(Jun 2, 2017)
criteria provided, single submitterVCV000924602
93.
GRCh37:
Chr1:55505678
GRCh38:
Chr1:55040005
PCSK9Familial hypercholesterolemia 3, HypobetalipoproteinemiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297693
94.
GRCh37:
Chr1:55505679
GRCh38:
Chr1:55040006
PCSK9E57KFamilial hypercholesterolemia, Familial hypercholesterolemia 3, Familial hypercholesterolemia 1,
not provided
Conflicting interpretations of pathogenicity
(Dec 10, 2020)
criteria provided, conflicting interpretationsVCV000548104
95.
GRCh37:
Chr1:55505683
GRCh38:
Chr1:55040010
PCSK9H58Rnot specifiedUncertain significance
(Jul 22, 2019)
criteria provided, single submitterVCV000929096
96.
GRCh37:
Chr1:55505685
GRCh38:
Chr1:55040012
PCSK9G59RFamilial hypercholesterolemia 3Uncertain significance
(Apr 29, 2016)
criteria provided, single submitterVCV000405335
97.
GRCh37:
Chr1:55505695
GRCh38:
Chr1:55040022
PCSK9A62DFamilial hypercholesterolemia 1Likely pathogenic
(Mar 1, 2016)
criteria provided, single submitterVCV000265918
98.
GRCh37:
Chr1:55505698
GRCh38:
Chr1:55040025
PCSK9T63IFamilial hypercholesterolemiaUncertain significance
(Jan 13, 2020)
criteria provided, single submitterVCV000922888
99.
GRCh37:
Chr1:55505706
GRCh38:
Chr1:55040033
PCSK9R66CFamilial hypercholesterolemiaUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV000923778
100.
GRCh37:
Chr1:55505707-55505708
GRCh38:
Chr1:55040034-55040035
PCSK9R66QFamilial hypercholesterolemia, Familial hypercholesterolemia 3Uncertain significance
(Feb 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000919153
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