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Links from MedGen

Items: 1 to 100 of 343

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:25870190
GRCh38:
Chr1:25543699
LDLRAP1M1VHypercholesterolemia, familial, 4Likely pathogenic
(Nov 15, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr1:25890150
GRCh38:
Chr1:25563659
LDLRAP1Hypercholesterolemia, familial, 4Likely pathogenic
(Dec 25, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr1:25889565-25889568
GRCh38:
Chr1:25563074-25563077
LDLRAP1E180fsHypercholesterolemia, familial, 4Likely pathogenic
(Apr 22, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr1:25880556
GRCh38:
Chr1:25554065
LDLRAP1Hypercholesterolemia, familial, 4Likely pathogenic
(Feb 16, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr1:25870255
GRCh38:
Chr1:25543764
LDLRAP1W22*Hypercholesterolemia, familial, 4Pathogenic
(Oct 26, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr1:25883772
GRCh38:
Chr1:25557281
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Apr 15, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr1:25890266
GRCh38:
Chr1:25563775
LDLRAP1G244DHypercholesterolemia, familial, 4Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr1:25889200
GRCh38:
Chr1:25562709
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 31, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:25890143
GRCh38:
Chr1:25563652
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jan 31, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:25880396
GRCh38:
Chr1:25553905
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jul 2, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:25889152
GRCh38:
Chr1:25562661
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 8, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:25889631-25889632
GRCh38:
Chr1:25563140-25563141
LDLRAP1S202PHypercholesterolemia, familial, 4Likely benign
(Sep 1, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:25883659
GRCh38:
Chr1:25557168
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 14, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:25870201
GRCh38:
Chr1:25543710
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jul 25, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:25890237
GRCh38:
Chr1:25563746
LDLRAP1D234EHypercholesterolemia, familial, 4Uncertain significance
(Aug 24, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:25880408
GRCh38:
Chr1:25553917
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jul 6, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:25891702
GRCh38:
Chr1:25565211
LDLRAP1Hypercholesterolemia, familial, 4Uncertain significance
(May 3, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr1:25881473
GRCh38:
Chr1:25554982
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Feb 10, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:25881416-25881419
GRCh38:
Chr1:25554925-25554928
LDLRAP1D101fsHypercholesterolemia, familial, 4Pathogenic
(Aug 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:25889176
GRCh38:
Chr1:25562685
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Dec 26, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr1:25889613
GRCh38:
Chr1:25563122
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jan 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:25883675
GRCh38:
Chr1:25557184
LDLRAP1D126NHypercholesterolemia, familial, 4Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:25890161
GRCh38:
Chr1:25563670
LDLRAP1T209SHypercholesterolemia, familial, 4Uncertain significance
(Dec 25, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr1:25890137
GRCh38:
Chr1:25563646
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jul 13, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr1:25881363
GRCh38:
Chr1:25554872
LDLRAP1G82RHypercholesterolemia, familial, 4Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:25893430
GRCh38:
Chr1:25566939
LDLRAP1W292GHypercholesterolemia, familial, 4Uncertain significance
(Mar 16, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:25890225
GRCh38:
Chr1:25563734
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Mar 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:25889565
GRCh38:
Chr1:25563074
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 28, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:25889540-25889542
GRCh38:
Chr1:25563049-25563051
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Feb 13, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:25880397
GRCh38:
Chr1:25553906
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Oct 25, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr1:25889597
GRCh38:
Chr1:25563106
LDLRAP1G190AHypercholesterolemia, familial, 4Uncertain significance
(May 7, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:25891657
GRCh38:
Chr1:25565166
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jul 13, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:25883764
GRCh38:
Chr1:25557273
LDLRAP1Hypercholesterolemia, familial, 4Uncertain significance
(Apr 29, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:25889630
GRCh38:
Chr1:25563139
LDLRAP1P201RHypercholesterolemia, familial, 4, not specifiedUncertain significance
(Mar 27, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:25870254
GRCh38:
Chr1:25543763
LDLRAP1W22LHypercholesterolemia, familial, 4Uncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:25870207
GRCh38:
Chr1:25543716
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Dec 18, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr1:25881349
GRCh38:
Chr1:25554858
LDLRAP1Hypercholesterolemia, familial, 4Likely pathogenic
(Dec 18, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr1:25870239
GRCh38:
Chr1:25543748
LDLRAP1L17*Hypercholesterolemia, familial, 4Pathogenic
(Oct 5, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:25883712
GRCh38:
Chr1:25557221
LDLRAP1N138SHypercholesterolemia, familial, 4Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:25883680
GRCh38:
Chr1:25557189
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 31, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:25889654
GRCh38:
Chr1:25563163
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 3, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:25889155
GRCh38:
Chr1:25562664
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 25, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:25870261
GRCh38:
Chr1:25543770
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Apr 13, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:25880495
GRCh38:
Chr1:25554004
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 7, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:25870284
GRCh38:
Chr1:25543793
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 3, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:25881470
GRCh38:
Chr1:25554979
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 9, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:25889604
GRCh38:
Chr1:25563113
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 4, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:25893438
GRCh38:
Chr1:25566947
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jan 1, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr1:25880487
GRCh38:
Chr1:25553996
LDLRAP1M55VHypercholesterolemia, familial, 4Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:25890165
GRCh38:
Chr1:25563674
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jan 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:25889631-25889632
GRCh38:
Chr1:25563140-25563141
LDLRAP1S202PHypercholesterolemia, familial, 4Likely benign
(Nov 2, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:25870207
GRCh38:
Chr1:25543716
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Apr 25, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:25870256
GRCh38:
Chr1:25543765
LDLRAP1G23RCardiovascular phenotype, Hypercholesterolemia, familial, 4Uncertain significance
(Jan 11, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:25890211
GRCh38:
Chr1:25563720
LDLRAP1V226ICardiovascular phenotype, Hypercholesterolemia, familial, 4Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr1:25889627
GRCh38:
Chr1:25563136
LDLRAP1T200ICardiovascular phenotype, Hypercholesterolemia, familial, 4Uncertain significance
(Aug 13, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:25889614
GRCh38:
Chr1:25563123
LDLRAP1R196CCardiovascular phenotype, Hypercholesterolemia, familial, 4Uncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:25889580
GRCh38:
Chr1:25563089
LDLRAP1Hypercholesterolemia, familial, 4, Cardiovascular phenotypeLikely benign
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:25889177
GRCh38:
Chr1:25562686
LDLRAP1A168Tnot specified, Hypercholesterolemia, familial, 4, Cardiovascular phenotype
Uncertain significance
(Jan 30, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:25889142
GRCh38:
Chr1:25562651
LDLRAP1A156VCardiovascular phenotype, Hypercholesterolemia, familial, 4Uncertain significance
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:25870231
GRCh38:
Chr1:25543740
LDLRAP1Cardiovascular phenotype, Hypercholesterolemia, familial, 4Likely benign
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:25893406
GRCh38:
Chr1:25566915
LDLRAP1A284Tnot specified, Hypercholesterolemia, familial, 4Uncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:25890192
GRCh38:
Chr1:25563701
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jan 29, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr1:25883692
GRCh38:
Chr1:25557201
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 19, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:25893417
GRCh38:
Chr1:25566926
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 24, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr1:25881413
GRCh38:
Chr1:25554922
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(May 13, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr1:25889556
GRCh38:
Chr1:25563065
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(May 13, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr1:25889131
GRCh38:
Chr1:25562640
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Sep 20, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr1:25890169
GRCh38:
Chr1:25563678
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Oct 3, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr1:25890159
GRCh38:
Chr1:25563668
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 27, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:25880528
GRCh38:
Chr1:25554037
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 27, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:25881398
GRCh38:
Chr1:25554907
LDLRAP1Hypercholesterolemia, familial, 4, Cardiovascular phenotypeLikely benign
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:25891708
GRCh38:
Chr1:25565217
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Sep 5, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr1:25889214
GRCh38:
Chr1:25562723
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 27, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr1:25889571
GRCh38:
Chr1:25563080
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Oct 9, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr1:25893444
GRCh38:
Chr1:25566953
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Nov 6, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr1:25890138
GRCh38:
Chr1:25563647
LDLRAP1not specified, Hypercholesterolemia, familial, 4Conflicting interpretations of pathogenicity
(Jan 9, 2023)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr1:25883743
GRCh38:
Chr1:25557252
LDLRAP1Cardiovascular phenotype, Hypercholesterolemia, familial, 4Likely benign
(Aug 14, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:25880405
GRCh38:
Chr1:25553914
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Nov 16, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:25881380
GRCh38:
Chr1:25554889
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Nov 13, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr1:25891681
GRCh38:
Chr1:25565190
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(May 3, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr1:25881471
GRCh38:
Chr1:25554980
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Oct 21, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr1:25889634
GRCh38:
Chr1:25563143
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Oct 6, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr1:25889616
GRCh38:
Chr1:25563125
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jul 13, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr1:25870210
GRCh38:
Chr1:25543719
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Aug 14, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr1:25891678
GRCh38:
Chr1:25565187
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Sep 5, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr1:25880568
GRCh38:
Chr1:25554077
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Dec 23, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr1:25891659
GRCh38:
Chr1:25565168
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Sep 25, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:25870252
GRCh38:
Chr1:25543761
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Sep 28, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:25891690
GRCh38:
Chr1:25565199
LDLRAP1Hypercholesterolemia, familial, 4, Cardiovascular phenotypeLikely benign
(Jul 23, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:25870243
GRCh38:
Chr1:25543752
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(May 7, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr1:25891667
GRCh38:
Chr1:25565176
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jul 23, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr1:25883698
GRCh38:
Chr1:25557207
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Apr 14, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr1:25870210
GRCh38:
Chr1:25543719
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Nov 18, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr1:25891656-25891657
GRCh38:
Chr1:25565165-25565166
LDLRAP1Hypercholesterolemia, familial, 4Benign
(Jul 21, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr1:25881347
GRCh38:
Chr1:25554856
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Apr 26, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr1:25883750
GRCh38:
Chr1:25557259
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Jun 27, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:25880543
GRCh38:
Chr1:25554052
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Oct 13, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr1:25870213
GRCh38:
Chr1:25543722
LDLRAP1Hypercholesterolemia, familial, 4, Cardiovascular phenotypeLikely benign
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:25883768
GRCh38:
Chr1:25557277
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(Nov 8, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr1:25893471
GRCh38:
Chr1:25566980
LDLRAP1Hypercholesterolemia, familial, 4Likely benign
(May 8, 2021)
criteria provided, single submitter
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