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Items: 1 to 100 of 861

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:53061024-77233450
GRCh38:
Chr1:52595352-76767765
ACADM, ACOT11, AK4, ALG6, ANGPTL3, ANKRD13C, ASB17, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, COA7, CPT2, CRYZ, CTH, CYB5RL, CYP2J2, CZIB, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DHCR24, DIO1, DIRAS3, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DYNLT5, ECHDC2, EFCAB7, ERICH3, ERICH3-AS1, FAM151A, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FYB2, GADD45A, GLIS1, GNG12, GNG12-AS1, GPX7, HHLA3, HHLA3-AS1, HOOK1, HSD52, HSPB11, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LEXM, LHX8, LINC00466, LINC01135, LINC01358, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01753, LINC01755, LINC01758, LINC01767, LINC01788, LINC02238, LINC02567, LINC02777, LINC02784, LINC02791, LINC02796, LOC100507634, LOC101926944, LOC101926964, LOC101927342, LOC101929935, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590804, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC114827846, LOC115801429, LOC115801430, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC120893141, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122056873, LOC122056874, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LRP8, LRP8-DT, LRRC40, LRRC42, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1262, MIR1273F, MIR1273G, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR5095, MIR6068, MROH7, MROH7-TTC4, MRPL37, MSH4, MYSM1, NDC1, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SCP2, SERBP1, SGIP1, SHISAL2A, SLC1A7, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, SSBP3, SSBP3-AS1, ST6GALNAC3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TNNI3K, TRK-CTT7-1, TTC22, TTC4, TYW3, UBE2U, USP1, USP24, WLS, YIPF1, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZYG11A, ZYG11B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr1:53253175-67805556
GRCh38:
Chr1:52787503-67339873
ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DYNLT5, ECHDC2, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, HSPB11, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LEXM, LINC00466, LINC01135, LINC01358, LINC01359, LINC01739, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC114827846, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LRP8, LRP8-DT, LRRC42, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1273F, MIR1273G, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR5095, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, RAVER2, ROR1, ROR1-AS1, SCP2, SGIP1, SLC1A7, SLC35D1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1, ZYG11A, ZYG11B
See casesLikely pathogenic
(May 7, 2013)
no assertion criteria provided
3.
GRCh37:
Chr1:54092945-64714537
GRCh38:
Chr1:53627272-64248854
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
4.
GRCh37:
Chr1:54203885-61905320
GRCh38:
Chr1:53738212-61439648
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr1:55496039
GRCh38:
Chr1:55030366
PCSK9Familial hypercholesterolemiaassociation
(Mar 3, 2022)
no assertion criteria provided
6.
GRCh37:
Chr1:55504650
GRCh38:
Chr1:55038977
PCSK9Hypercholesterolemia, familial, 1Benign
(Aug 23, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr1:55505158
GRCh38:
Chr1:55039485
PCSK9Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:55505165
GRCh38:
Chr1:55039492
PCSK9Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:55505180
GRCh38:
Chr1:55039507
PCSK9Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia, not provided,
Hypercholesterolemia, familial, 1
Uncertain significance
(Jan 5, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:55505224
GRCh38:
Chr1:55039551
PCSK9Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia, Hypercholesterolemia, familial, 1
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:55505266
GRCh38:
Chr1:55039593
PCSK9Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr1:55505266
GRCh38:
Chr1:55039593
PCSK9Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr1:55505274
GRCh38:
Chr1:55039601
PCSK9Familial hypobetalipoproteinemia, Hypercholesterolemia, familial, 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr1:55505290
GRCh38:
Chr1:55039617
PCSK9Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:55505311
GRCh38:
Chr1:55039638
PCSK9Familial hypobetalipoproteinemia, Hypercholesterolemia, familial, 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:55505326
GRCh38:
Chr1:55039653
PCSK9Familial hypobetalipoproteinemia, Hypercholesterolemia, familial, 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:55505331
GRCh38:
Chr1:55039658
PCSK9Familial hypobetalipoproteinemia, Hypercholesterolemia, familial, 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:55505343
GRCh38:
Chr1:55039670
PCSK9Hypercholesterolemia, familial, 1Benignno assertion criteria provided
19.
GRCh37:
Chr1:55505371
GRCh38:
Chr1:55039698
PCSK9Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3Conflicting interpretations of pathogenicity
(Apr 28, 2017)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr1:55505438
GRCh38:
Chr1:55039765
PCSK9Hypercholesterolemia, familial, 1Uncertain significance
(Mar 1, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:55505443
GRCh38:
Chr1:55039770
PCSK9Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr1:55505444
GRCh38:
Chr1:55039771
PCSK9Hypercholesterolemia, familial, 1Uncertain significance
(Mar 1, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:55505447
GRCh38:
Chr1:55039774
PCSK9Hypobetalipoproteinemia, Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:55505485
GRCh38:
Chr1:55039812
PCSK9Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr1:55505502
GRCh38:
Chr1:55039829
PCSK9Familial hypercholesterolemiaLikely benign
(Mar 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr1:55505503
GRCh38:
Chr1:55039830
PCSK9Familial hypercholesterolemia, Hypercholesterolemia, familial, 1Conflicting interpretations of pathogenicity
(Mar 23, 2018)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr1:55505512
GRCh38:
Chr1:55039839
PCSK9M1RFamilial hypercholesterolemiaUncertain significance
(Jun 24, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr1:55505516
GRCh38:
Chr1:55039843
PCSK9Familial hypercholesterolemiaLikely benign
(Apr 20, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr1:55505518
GRCh38:
Chr1:55039845
PCSK9T3NHypercholesterolemia, autosomal dominant, 3Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr1:55505519
GRCh38:
Chr1:55039846
PCSK9Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3Likely benign
(Feb 18, 2021)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:55505520
GRCh38:
Chr1:55039847
PCSK9V4LFamilial hypercholesterolemiaUncertain significance
(Dec 11, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr1:55505520
GRCh38:
Chr1:55039847
PCSK9V4IHypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1
Conflicting interpretations of pathogenicity
(Oct 6, 2021)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:55505527
GRCh38:
Chr1:55039854
PCSK9S6FFamilial hypercholesterolemiaUncertain significance
(Nov 1, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr1:55505531
GRCh38:
Chr1:55039858
PCSK9Hypercholesterolemia, autosomal dominant, 3Likely benign
(Nov 18, 2020)
criteria provided, single submitter
35.
GRCh37:
Chr1:55505532
GRCh38:
Chr1:55039859
PCSK9R8WFamilial hypercholesterolemiaUncertain significance
(Jul 15, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr1:55505537
GRCh38:
Chr1:55039864
PCSK9Hypercholesterolemia, autosomal dominant, 3Likely benign
(Nov 15, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr1:55505537
GRCh38:
Chr1:55039864
PCSK9Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3Likely benign
(Dec 11, 2020)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:55505544
GRCh38:
Chr1:55039871
PCSK9P12TFamilial hypercholesterolemiaUncertain significance
(Jan 8, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr1:55505545
GRCh38:
Chr1:55039872
PCSK9P12LFamilial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:55505546
GRCh38:
Chr1:55039873
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 9, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr1:55505550
GRCh38:
Chr1:55039877
PCSK9P14SFamilial hypercholesterolemiaUncertain significance
(Nov 11, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr1:55505552-55505554
GRCh38:
Chr1:55039879-55039881
PCSK9L23delFamilial hypercholesterolemiaLikely benign
(Mar 19, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:55505552-55505560
GRCh38:
Chr1:55039879-55039887
PCSK9Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemiaConflicting interpretations of pathogenicity
(Aug 26, 2021)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9not provided, Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3
Uncertain significance
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Familial hypercholesterolemia, not specified, not provided,
Hypercholesterolemia, autosomal dominant, 3
Conflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9L15fsHypercholesterolemia, familial, 1Pathogenic
(Mar 1, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia, not provided,
not specified, Hypercholesterolemia, familial, 1
Conflicting interpretations of pathogenicity
(Dec 18, 2021)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr1:55505552-55505553
GRCh38:
Chr1:55039879-55039880
PCSK9not specified, Hypercholesterolemia, familial, 1, Familial hypercholesterolemia,
not provided, Hypercholesterolemia, autosomal dominant, 3
Benign/Likely benign
(Jan 10, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:55505553-55505561
GRCh38:
Chr1:55039880-55039888
PCSK9Familial hypercholesterolemiaUncertain significance
(Nov 30, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr1:55505553-55505554
GRCh38:
Chr1:55039880-55039881
PCSK9Familial hypercholesterolemiaUncertain significance
(Sep 24, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr1:55505553-55505558
GRCh38:
Chr1:55039880-55039885
PCSK9Familial hypercholesterolemiaLikely benign
(Jan 11, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr1:55505553-55505555
GRCh38:
Chr1:55039880-55039882
PCSK9L23delnot provided, Hypercholesterolemia, autosomal dominant, 3, Hypercholesterolemia, familial, 1,
not specified
Conflicting interpretations of pathogenicity
(Nov 30, 2021)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr1:55505560-55505561
GRCh38:
Chr1:55039887-55039888
PCSK9not providedLikely benign
(Sep 30, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr1:55505575
GRCh38:
Chr1:55039902
PCSK9L22PFamilial hypercholesterolemiaUncertain significance
(Nov 22, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr1:55505576
GRCh38:
Chr1:55039903
PCSK9Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3Likely benign
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:55505580
GRCh38:
Chr1:55039907
PCSK9G24SFamilial hypercholesterolemiaUncertain significance
(May 11, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr1:55505586
GRCh38:
Chr1:55039913
PCSK9A26THypercholesterolemia, familial, 1Pathogenicno assertion criteria provided
58.
GRCh37:
Chr1:55505587
GRCh38:
Chr1:55039914
PCSK9A26VFamilial hypercholesterolemiaUncertain significance
(Oct 24, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr1:55505590
GRCh38:
Chr1:55039917
PCSK9G27AFamilial hypercholesterolemiaUncertain significance
(Apr 29, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr1:55505591
GRCh38:
Chr1:55039918
PCSK9Familial hypercholesterolemiaLikely benign
(Jul 14, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr1:55505593
GRCh38:
Chr1:55039920
PCSK9R29fsHypercholesterolemia, familial, 1, not specifiedConflicting interpretations of pathogenicity
(Sep 29, 2021)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr1:55505594
GRCh38:
Chr1:55039921
PCSK9Familial hypercholesterolemiaLikely benign
(Feb 12, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr1:55505595
GRCh38:
Chr1:55039922
PCSK9R29CFamilial hypercholesterolemiaUncertain significance
(Feb 4, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr1:55505595
GRCh38:
Chr1:55039922
PCSK9R29GHypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr1:55505598-55505599
GRCh38:
Chr1:55039925-55039926
PCSK9Q31fsHypercholesterolemia, autosomal dominant, 3Pathogenic
(Dec 17, 2019)
no assertion criteria provided
66.
GRCh37:
Chr1:55505599
GRCh38:
Chr1:55039926
PCSK9A30EFamilial hypercholesterolemiaUncertain significance
(Dec 5, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr1:55505600
GRCh38:
Chr1:55039927
PCSK9Familial hypercholesterolemiaLikely benign
(Nov 11, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr1:55505603-55505604
GRCh38:
Chr1:55039930-55039931
PCSK9Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemiaLikely benign
(Oct 12, 2021)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:55505604
GRCh38:
Chr1:55039931
PCSK9E32KHomozygous familial hypercholesterolemia, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1,
Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3
Conflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr1:55505606
GRCh38:
Chr1:55039933
PCSK9Hypercholesterolemia, autosomal dominant, 3Likely benign
(May 13, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr1:55505607
GRCh38:
Chr1:55039934
PCSK9D33NFamilial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Sep 17, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:55505610
GRCh38:
Chr1:55039937
PCSK9E34KHypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:55505613
GRCh38:
Chr1:55039940
PCSK9D35YHypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemiaConflicting interpretations of pathogenicity
(Dec 14, 2021)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr1:55505615
GRCh38:
Chr1:55039942
PCSK9Familial hypercholesterolemiaLikely benign
(Oct 26, 2020)
criteria provided, single submitter
75.
GRCh37:
Chr1:55505616
GRCh38:
Chr1:55039943
PCSK9G36SHypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemiaUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:55505625
GRCh38:
Chr1:55039952
PCSK9E39KHypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemiaUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:55505628
GRCh38:
Chr1:55039955
PCSK9E40KHypercholesterolemia, autosomal dominant, 3Uncertain significance
(Nov 6, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:55505633
GRCh38:
Chr1:55039960
PCSK9Familial hypercholesterolemiaLikely benign
(Feb 25, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr1:55505636
GRCh38:
Chr1:55039963
PCSK9Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3Likely benign
(Mar 24, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:55505642
GRCh38:
Chr1:55039969
PCSK9Familial hypercholesterolemiaLikely benign
(Aug 28, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr1:55505646
GRCh38:
Chr1:55039973
PCSK9R46CFamilial hypercholesterolemiaUncertain significance
(Oct 18, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr1:55505647
GRCh38:
Chr1:55039974
PCSK9R46LHypobetalipoproteinemia, Hypocholesterolemia, Familial hypercholesterolemia,
not specified, not provided, Hypercholesterolemia, familial, 1,
Low density lipoprotein cholesterol level quantitative trait locus 1, Hypercholesterolemia, autosomal dominant, 3
Benign/Likely benign
(Feb 8, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:55505650
GRCh38:
Chr1:55039977
PCSK9S47CHypercholesterolemia, familial, 1Pathogenicno assertion criteria provided
84.
GRCh37:
Chr1:55505651
GRCh38:
Chr1:55039978
PCSK9not specified, not provided, Hypercholesterolemia, familial, 1,
Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia
Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr1:55505652
GRCh38:
Chr1:55039979
PCSK9E48*Familial hypercholesterolemiaLikely benign
(Sep 30, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr1:55505652
GRCh38:
Chr1:55039979
PCSK9E48KHypercholesterolemia, familial, 1, Familial hypercholesterolemia, not provided,
Hypercholesterolemia, autosomal dominant, 3
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:55505657
GRCh38:
Chr1:55039984
PCSK9Hypercholesterolemia, autosomal dominant, 3Likely benign
(Mar 22, 2019)
criteria provided, single submitter
88.
GRCh37:
Chr1:55505666
GRCh38:
Chr1:55039993
PCSK9Hypercholesterolemia, autosomal dominant, 3Likely benign
(Dec 10, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr1:55505666
GRCh38:
Chr1:55039993
PCSK9Hypercholesterolemia, autosomal dominant, 3Likely benign
(Aug 15, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr1:55505666-55505668
GRCh38:
Chr1:55039993-55039995
PCSK9A53VFamilial hypercholesterolemiaLikely benign
(Dec 2, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr1:55505666
GRCh38:
Chr1:55039993
PCSK9Familial hypercholesterolemiaLikely benign
(Aug 2, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr1:55505668
GRCh38:
Chr1:55039995
PCSK9A53GHypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3, not specified,
Hypercholesterolemia, familial, 1, Familial hypercholesterolemia
Uncertain significance
(Apr 13, 2021)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:55505668
GRCh38:
Chr1:55039995
PCSK9A53Vnot specified, not provided, Hypercholesterolemia, familial, 1,
Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia
Benign/Likely benign
(Jan 10, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:55505669
GRCh38:
Chr1:55039996
PCSK9Familial hypercholesterolemiaLikely benign
(Mar 2, 2020)
criteria provided, single submitter
95.
GRCh37:
Chr1:55505674
GRCh38:
Chr1:55040001
PCSK9A55VFamilial hypercholesterolemiaUncertain significance
(Jan 8, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr1:55505675
GRCh38:
Chr1:55040002
PCSK9Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemiaLikely benign
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:55505676
GRCh38:
Chr1:55040003
PCSK9P56SFamilial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:55505678
GRCh38:
Chr1:55040005
PCSK9Familial hypercholesterolemiaLikely benign
(Jun 2, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr1:55505678
GRCh38:
Chr1:55040005
PCSK9Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr1:55505679
GRCh38:
Chr1:55040006
PCSK9E57Knot provided, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1,
Hypercholesterolemia, autosomal dominant, 3
Conflicting interpretations of pathogenicity
(Oct 28, 2021)
criteria provided, conflicting interpretations
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