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Did you mean LDLRAP1 as a gene symbol? Search ClinVar for LDLRAP1

See LDLRAP1 low density lipoprotein receptor adaptor protein 1 in the Gene database

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Items: 1 to 100 of 231

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:25870085
GRCh38:
Chr1:25543594
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296964
2.
GRCh37:
Chr1:25870085
GRCh38:
Chr1:25543594
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296963
3.
GRCh37:
Chr1:25870090
GRCh38:
Chr1:25543599
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296965
4.
GRCh37:
Chr1:25870098
GRCh38:
Chr1:25543607
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296966
5.
GRCh37:
Chr1:25870110
GRCh38:
Chr1:25543619
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875152
6.
GRCh37:
Chr1:25870115
GRCh38:
Chr1:25543624
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000875153
7.
GRCh37:
Chr1:25870120
GRCh38:
Chr1:25543629
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296967
8.
GRCh37:
Chr1:25870122
GRCh38:
Chr1:25543631
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296968
9.
GRCh37:
Chr1:25870131
GRCh38:
Chr1:25543640
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875154
10.
GRCh37:
Chr1:25870144
GRCh38:
Chr1:25543653
LDLRAP1Familial hypercholesterolemia 4Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000296969
11.
GRCh37:
Chr1:25870153
GRCh38:
Chr1:25543662
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296970
12.
GRCh37:
Chr1:25870195
GRCh38:
Chr1:25543704
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 20, 2020)
criteria provided, single submitterVCV000698698
13.
GRCh37:
Chr1:25870210
GRCh38:
Chr1:25543719
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jun 24, 2020)
criteria provided, single submitterVCV001152782
14.
GRCh37:
Chr1:25870213
GRCh38:
Chr1:25543722
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Apr 22, 2020)
criteria provided, single submitterVCV001156766
15.
GRCh37:
Chr1:25870213
GRCh38:
Chr1:25543722
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 29, 2020)
criteria provided, single submitterVCV001154055
16.
GRCh37:
Chr1:25870216
GRCh38:
Chr1:25543725
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001130396
17.
GRCh37:
Chr1:25870216
GRCh38:
Chr1:25543725
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemiaLikely benign
(Nov 15, 2019)
criteria provided, single submitterVCV000795424
18.
GRCh37:
Chr1:25870223
GRCh38:
Chr1:25543732
LDLRAP1I12VFamilial hypercholesterolemia, Familial hypercholesterolemia 4Uncertain significance
(Feb 7, 2018)
criteria provided, single submitterVCV000581619
19.
GRCh37:
Chr1:25870234
GRCh38:
Chr1:25543743
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Oct 26, 2020)
criteria provided, conflicting interpretationsVCV000296971
20.
GRCh37:
Chr1:25870237
GRCh38:
Chr1:25543746
LDLRAP1S16Rnot specifiedUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV000918122
21.
GRCh37:
Chr1:25870240
GRCh38:
Chr1:25543749
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jun 1, 2020)
criteria provided, single submitterVCV001079902
22.
GRCh37:
Chr1:25870253-25870254
GRCh38:
Chr1:25543762-25543763
LDLRAP1G25fsFamilial hypercholesterolemia 4Pathogenic
(Mar 14, 2020)
criteria provided, single submitterVCV000947831
23.
GRCh37:
Chr1:25870253
GRCh38:
Chr1:25543762
LDLRAP1W22RFamilial hypercholesterolemia 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296972
24.
GRCh37:
Chr1:25870254
GRCh38:
Chr1:25543763
LDLRAP1G24fsnot provided, Familial hypercholesterolemia 4Pathogenic/Likely pathogenic
(Oct 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000468290
25.
GRCh37:
Chr1:25870254
GRCh38:
Chr1:25543763
LDLRAP1W22*Familial hypercholesterolemia 4Pathogenic
(Sep 9, 2020)
criteria provided, single submitterVCV000004773
26.
GRCh37:
Chr1:25870258
GRCh38:
Chr1:25543767
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jan 20, 2020)
criteria provided, single submitterVCV001159633
27.
GRCh37:
Chr1:25870261
GRCh38:
Chr1:25543770
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Apr 24, 2020)
criteria provided, single submitterVCV001082393
28.
GRCh37:
Chr1:25870264
GRCh38:
Chr1:25543773
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemia, not provided
Conflicting interpretations of pathogenicity
(Oct 26, 2020)
criteria provided, conflicting interpretationsVCV000296973
29.
GRCh37:
Chr1:25870265
GRCh38:
Chr1:25543774
LDLRAP1G26SFamilial hypercholesterolemia 4Uncertain significance
(May 7, 2019)
criteria provided, single submitterVCV000944672
30.
GRCh37:
Chr1:25870267
GRCh38:
Chr1:25543776
LDLRAP1Familial hypercholesterolemia, Familial hypercholesterolemia 4Likely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000699049
31.
GRCh37:
Chr1:25870285
GRCh38:
Chr1:25543794
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876116
32.
GRCh37:
Chr1:25880409
GRCh38:
Chr1:25553918
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Nov 20, 2019)
criteria provided, single submitterVCV001144162
33.
GRCh37:
Chr1:25880412
GRCh38:
Chr1:25553921
LDLRAP1Familial hypercholesterolemia 4Pathogenic
(Aug 27, 2020)
criteria provided, single submitterVCV000004779
34.
GRCh37:
Chr1:25880417
GRCh38:
Chr1:25553926
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 16, 2019)
criteria provided, single submitterVCV001090213
35.
GRCh37:
Chr1:25880434-25880435
GRCh38:
Chr1:25553943-25553944
LDLRAP1T38fsnot provided, Familial hypercholesterolemia 4Pathogenic/Likely pathogenic
(May 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000817252
36.
GRCh37:
Chr1:25880437
GRCh38:
Chr1:25553946
LDLRAP1T38MFamilial hypercholesterolemia 4Uncertain significance
(Jul 22, 2019)
criteria provided, single submitterVCV000965092
37.
GRCh37:
Chr1:25880438
GRCh38:
Chr1:25553947
LDLRAP1Familial hypercholesterolemia 4Likely benign
(May 14, 2020)
criteria provided, single submitterVCV001153168
38.
GRCh37:
Chr1:25880438
GRCh38:
Chr1:25553947
LDLRAP1Familial hypercholesterolemia, Familial hypercholesterolemia 4Likely benign
(Nov 18, 2020)
criteria provided, single submitterVCV000696641
39.
GRCh37:
Chr1:25880439
GRCh38:
Chr1:25553948
LDLRAP1R39WFamilial hypercholesterolemia 4Uncertain significance
(Jan 25, 2019)
criteria provided, single submitterVCV000406209
40.
GRCh37:
Chr1:25880440
GRCh38:
Chr1:25553949
LDLRAP1R39QFamilial hypercholesterolemia 4Uncertain significance
(Aug 31, 2019)
criteria provided, single submitterVCV000941822
41.
GRCh37:
Chr1:25880446
GRCh38:
Chr1:25553955
LDLRAP1T41Mnot provided, Familial hypercholesterolemia 4, Familial hypercholesterolemia
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000646841
42.
GRCh37:
Chr1:25880447
GRCh38:
Chr1:25553956
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 21, 2019)
criteria provided, single submitterVCV001124554
43.
GRCh37:
Chr1:25880465
GRCh38:
Chr1:25553974
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemia, not provided
Likely benign
(Oct 26, 2020)
criteria provided, single submitterVCV000705792
44.
GRCh37:
Chr1:25880480
GRCh38:
Chr1:25553989
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 29, 2020)
criteria provided, single submitterVCV001097001
45.
GRCh37:
Chr1:25880491
GRCh38:
Chr1:25554000
LDLRAP1T56MFamilial hypercholesterolemia 4Uncertain significance
(Oct 26, 2019)
criteria provided, single submitterVCV000968442
46.
GRCh37:
Chr1:25880492
GRCh38:
Chr1:25554001
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001086054
47.
GRCh37:
Chr1:25880510
GRCh38:
Chr1:25554019
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 2, 2019)
criteria provided, single submitterVCV001121399
48.
GRCh37:
Chr1:25880516
GRCh38:
Chr1:25554025
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 15, 2020)
criteria provided, single submitterVCV001113370
49.
GRCh37:
Chr1:25880525
GRCh38:
Chr1:25554034
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000296974
50.
GRCh37:
Chr1:25880531
GRCh38:
Chr1:25554040
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001104600
51.
GRCh37:
Chr1:25880532
GRCh38:
Chr1:25554041
LDLRAP1A70TFamilial hypercholesterolemia 4Uncertain significance
(Sep 20, 2019)
criteria provided, single submitterVCV000937981
52.
GRCh37:
Chr1:25880546
GRCh38:
Chr1:25554055
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jun 21, 2020)
criteria provided, single submitterVCV001079936
53.
GRCh37:
Chr1:25880547
GRCh38:
Chr1:25554056
LDLRAP1V75Mnot specifiedUncertain significance
(Jan 20, 2020)
criteria provided, single submitterVCV000917584
54.
GRCh37:
Chr1:25880551
GRCh38:
Chr1:25554060
LDLRAP1A76GFamilial hypercholesterolemia 4Uncertain significance
(Jul 15, 2019)
criteria provided, single submitterVCV000648414
55.
GRCh37:
Chr1:25880552
GRCh38:
Chr1:25554061
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001095918
56.
GRCh37:
Chr1:25880563
GRCh38:
Chr1:25554072
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 1, 2019)
criteria provided, single submitterVCV001085241
57.
GRCh37:
Chr1:25881346
GRCh38:
Chr1:25554855
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Apr 22, 2019)
criteria provided, single submitterVCV001087838
58.
GRCh37:
Chr1:25881354
GRCh38:
Chr1:25554863
LDLRAP1K79EFamilial hypercholesterolemia 4Uncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000568256
59.
GRCh37:
Chr1:25881385-25881386
GRCh38:
Chr1:25554894-25554895
LDLRAP1L90fsFamilial hypercholesterolemia 4Pathogenic
(Sep 12, 2019)
criteria provided, single submitterVCV000935692
60.
GRCh37:
Chr1:25881386
GRCh38:
Chr1:25554895
LDLRAP1Familial hypercholesterolemia 4, not providedLikely benign
(Dec 5, 2018)
criteria provided, single submitterVCV000796497
61.
GRCh37:
Chr1:25881395
GRCh38:
Chr1:25554904
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000876117
62.
GRCh37:
Chr1:25881403
GRCh38:
Chr1:25554912
LDLRAP1R95QFamilial hypercholesterolemia 4, not specified, not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2021)
criteria provided, conflicting interpretationsVCV000296975
63.
GRCh37:
Chr1:25881410
GRCh38:
Chr1:25554919
LDLRAP1Familial hypercholesterolemia 4Likely benign
(May 8, 2019)
criteria provided, single submitterVCV001110617
64.
GRCh37:
Chr1:25881416
GRCh38:
Chr1:25554925
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 17, 2020)
criteria provided, single submitterVCV001122346
65.
GRCh37:
Chr1:25881419
GRCh38:
Chr1:25554928
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 15, 2020)
criteria provided, single submitterVCV001137139
66.
GRCh37:
Chr1:25881425
GRCh38:
Chr1:25554934
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 17, 2020)
criteria provided, single submitterVCV001121571
67.
GRCh37:
Chr1:25881449
GRCh38:
Chr1:25554958
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Aug 20, 2020)
criteria provided, single submitterVCV000697656
68.
GRCh37:
Chr1:25881458
GRCh38:
Chr1:25554967
LDLRAP1I113Mnot specifiedUncertain significance
(Dec 21, 2020)
criteria provided, single submitterVCV000992479
69.
GRCh37:
Chr1:25881467
GRCh38:
Chr1:25554976
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemia, not provided
Conflicting interpretations of pathogenicity
(Jul 30, 2020)
criteria provided, conflicting interpretationsVCV000567026
70.
GRCh37:
Chr1:25883636
GRCh38:
Chr1:25557145
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jul 23, 2020)
criteria provided, single submitterVCV001153129
71.
GRCh37:
Chr1:25883637
GRCh38:
Chr1:25557146
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 22, 2019)
criteria provided, single submitterVCV001116410
72.
GRCh37:
Chr1:25883662
GRCh38:
Chr1:25557171
LDLRAP1not provided, Familial hypercholesterolemia 4Likely benign
(Oct 29, 2018)
criteria provided, single submitterVCV000793385
73.
GRCh37:
Chr1:25883674
GRCh38:
Chr1:25557183
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Dec 5, 2020)
criteria provided, conflicting interpretationsVCV000296976
74.
GRCh37:
Chr1:25883689
GRCh38:
Chr1:25557198
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Feb 20, 2020)
criteria provided, single submitterVCV000794049
75.
GRCh37:
Chr1:25883695
GRCh38:
Chr1:25557204
LDLRAP1not provided, not specified, Familial hypercholesterolemia 4
Conflicting interpretations of pathogenicity
(Dec 6, 2020)
criteria provided, conflicting interpretationsVCV000468287
76.
GRCh37:
Chr1:25883696
GRCh38:
Chr1:25557205
LDLRAP1A133TFamilial hypercholesterolemia, Familial hypercholesterolemia 4Uncertain significance
(Dec 22, 2018)
criteria provided, single submitterVCV000642366
77.
GRCh37:
Chr1:25883699
GRCh38:
Chr1:25557208
LDLRAP1Q134*Familial hypercholesterolemia 4Pathogenic
(Oct 3, 2020)
criteria provided, single submitterVCV001074905
78.
GRCh37:
Chr1:25883701
GRCh38:
Chr1:25557210
LDLRAP1S135fsFamilial hypercholesterolemia 4Pathogenic
(Sep 23, 2020)
criteria provided, single submitterVCV001072018
79.
GRCh37:
Chr1:25883705
GRCh38:
Chr1:25557214
LDLRAP1Q136*Familial hypercholesterolemia 4Pathogenic
(Nov 16, 2018)
criteria provided, single submitterVCV000004775
80.
GRCh37:
Chr1:25883713
GRCh38:
Chr1:25557222
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296977
81.
GRCh37:
Chr1:25883722
GRCh38:
Chr1:25557231
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Nov 26, 2020)
criteria provided, single submitterVCV001135309
82.
GRCh37:
Chr1:25883722
GRCh38:
Chr1:25557231
LDLRAP1Familial hypercholesterolemia 4, not providedConflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000296978
83.
GRCh37:
Chr1:25883725
GRCh38:
Chr1:25557234
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 25, 2020)
criteria provided, single submitterVCV001131196
84.
GRCh37:
Chr1:25883728
GRCh38:
Chr1:25557237
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 28, 2019)
criteria provided, single submitterVCV001096685
85.
GRCh37:
Chr1:25883729-25883730
GRCh38:
Chr1:25557238-25557239
LDLRAP1H144fsFamilial hypercholesterolemia 4Pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000662264
86.
GRCh37:
Chr1:25883731
GRCh38:
Chr1:25557240
LDLRAP1Familial hypercholesterolemia 4, not specifiedBenign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000536200
87.
GRCh37:
Chr1:25883750
GRCh38:
Chr1:25557259
LDLRAP1R151WFamilial hypercholesterolemia 4, not providedUncertain significance
(May 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000296979
88.
GRCh37:
Chr1:25883751
GRCh38:
Chr1:25557260
LDLRAP1R151QFamilial hypercholesterolemia 1, Familial hypercholesterolemia 4Uncertain significance
(Aug 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000684845
89.
GRCh37:
Chr1:25883764
GRCh38:
Chr1:25557273
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jun 29, 2019)
criteria provided, single submitterVCV000966557
90.
GRCh37:
Chr1:25883765
GRCh38:
Chr1:25557274
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001134119
91.
GRCh37:
Chr1:25883765
GRCh38:
Chr1:25557274
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Aug 26, 2020)
criteria provided, single submitterVCV001127491
92.
GRCh37:
Chr1:25889125
GRCh38:
Chr1:25562634
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 17, 2019)
criteria provided, single submitterVCV001081331
93.
GRCh37:
Chr1:25889152
GRCh38:
Chr1:25562661
LDLRAP1Familial hypercholesterolemia 4Likely benign
(May 10, 2020)
criteria provided, single submitterVCV001109425
94.
GRCh37:
Chr1:25889155
GRCh38:
Chr1:25562664
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 26, 2020)
criteria provided, single submitterVCV001099004
95.
GRCh37:
Chr1:25889155
GRCh38:
Chr1:25562664
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Oct 21, 2020)
criteria provided, conflicting interpretationsVCV000296980
96.
GRCh37:
Chr1:25889162
GRCh38:
Chr1:25562671
LDLRAP1Q163*Familial hypercholesterolemia 4Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000296981
97.
GRCh37:
Chr1:25889173
GRCh38:
Chr1:25562682
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001092378
98.
GRCh37:
Chr1:25889200
GRCh38:
Chr1:25562709
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Nov 15, 2019)
criteria provided, single submitterVCV001132610
99.
GRCh37:
Chr1:25889214
GRCh38:
Chr1:25562723
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Aug 20, 2020)
criteria provided, single submitterVCV001107870
100.
GRCh37:
Chr1:25889216
GRCh38:
Chr1:25562725
LDLRAP1not provided, Familial hypercholesterolemia 4Likely benign
(Nov 1, 2020)
criteria provided, single submitterVCV000792457
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