| - GRCh37:
- Chr1:25870190
- GRCh38:
- Chr1:25543699
| LDLRAP1 | M1V | Hypercholesterolemia, familial, 4 | Likely pathogenic (Nov 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890150
- GRCh38:
- Chr1:25563659
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely pathogenic (Dec 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889565-25889568
- GRCh38:
- Chr1:25563074-25563077
| LDLRAP1 | E180fs | Hypercholesterolemia, familial, 4 | Likely pathogenic (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880556
- GRCh38:
- Chr1:25554065
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely pathogenic (Feb 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870255
- GRCh38:
- Chr1:25543764
| LDLRAP1 | W22* | Hypercholesterolemia, familial, 4 | Pathogenic (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883772
- GRCh38:
- Chr1:25557281
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890266
- GRCh38:
- Chr1:25563775
| LDLRAP1 | G244D | Hypercholesterolemia, familial, 4 | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889200
- GRCh38:
- Chr1:25562709
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890143
- GRCh38:
- Chr1:25563652
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880396
- GRCh38:
- Chr1:25553905
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889152
- GRCh38:
- Chr1:25562661
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889631-25889632
- GRCh38:
- Chr1:25563140-25563141
| LDLRAP1 | S202P | Hypercholesterolemia, familial, 4 | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883659
- GRCh38:
- Chr1:25557168
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870201
- GRCh38:
- Chr1:25543710
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890237
- GRCh38:
- Chr1:25563746
| LDLRAP1 | D234E | Hypercholesterolemia, familial, 4 | Uncertain significance (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880408
- GRCh38:
- Chr1:25553917
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891702
- GRCh38:
- Chr1:25565211
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Uncertain significance (May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881473
- GRCh38:
- Chr1:25554982
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881416-25881419
- GRCh38:
- Chr1:25554925-25554928
| LDLRAP1 | D101fs | Hypercholesterolemia, familial, 4 | Pathogenic (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889176
- GRCh38:
- Chr1:25562685
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889613
- GRCh38:
- Chr1:25563122
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883675
- GRCh38:
- Chr1:25557184
| LDLRAP1 | D126N | Hypercholesterolemia, familial, 4 | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890161
- GRCh38:
- Chr1:25563670
| LDLRAP1 | T209S | Hypercholesterolemia, familial, 4 | Uncertain significance (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890137
- GRCh38:
- Chr1:25563646
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881363
- GRCh38:
- Chr1:25554872
| LDLRAP1 | G82R | Hypercholesterolemia, familial, 4 | Uncertain significance (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25893430
- GRCh38:
- Chr1:25566939
| LDLRAP1 | W292G | Hypercholesterolemia, familial, 4 | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890225
- GRCh38:
- Chr1:25563734
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889565
- GRCh38:
- Chr1:25563074
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889540-25889542
- GRCh38:
- Chr1:25563049-25563051
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Feb 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880397
- GRCh38:
- Chr1:25553906
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889597
- GRCh38:
- Chr1:25563106
| LDLRAP1 | G190A | Hypercholesterolemia, familial, 4 | Uncertain significance (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891657
- GRCh38:
- Chr1:25565166
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883764
- GRCh38:
- Chr1:25557273
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Uncertain significance (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889630
- GRCh38:
- Chr1:25563139
| LDLRAP1 | P201R | Hypercholesterolemia, familial, 4, not specified | Uncertain significance (Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25870254
- GRCh38:
- Chr1:25543763
| LDLRAP1 | W22L | Hypercholesterolemia, familial, 4 | Uncertain significance (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25870207
- GRCh38:
- Chr1:25543716
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881349
- GRCh38:
- Chr1:25554858
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely pathogenic (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870239
- GRCh38:
- Chr1:25543748
| LDLRAP1 | L17* | Hypercholesterolemia, familial, 4 | Pathogenic (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883712
- GRCh38:
- Chr1:25557221
| LDLRAP1 | N138S | Hypercholesterolemia, familial, 4 | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883680
- GRCh38:
- Chr1:25557189
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889654
- GRCh38:
- Chr1:25563163
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889155
- GRCh38:
- Chr1:25562664
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870261
- GRCh38:
- Chr1:25543770
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880495
- GRCh38:
- Chr1:25554004
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870284
- GRCh38:
- Chr1:25543793
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881470
- GRCh38:
- Chr1:25554979
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889604
- GRCh38:
- Chr1:25563113
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25893438
- GRCh38:
- Chr1:25566947
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880487
- GRCh38:
- Chr1:25553996
| LDLRAP1 | M55V | Hypercholesterolemia, familial, 4 | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890165
- GRCh38:
- Chr1:25563674
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889631-25889632
- GRCh38:
- Chr1:25563140-25563141
| LDLRAP1 | S202P | Hypercholesterolemia, familial, 4 | Likely benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870207
- GRCh38:
- Chr1:25543716
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870256
- GRCh38:
- Chr1:25543765
| LDLRAP1 | G23R | Cardiovascular phenotype, Hypercholesterolemia, familial, 4 | Uncertain significance (Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25890211
- GRCh38:
- Chr1:25563720
| LDLRAP1 | V226I | Cardiovascular phenotype, Hypercholesterolemia, familial, 4 | Conflicting interpretations of pathogenicity (Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:25889627
- GRCh38:
- Chr1:25563136
| LDLRAP1 | T200I | Cardiovascular phenotype, Hypercholesterolemia, familial, 4 | Uncertain significance (Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25889614
- GRCh38:
- Chr1:25563123
| LDLRAP1 | R196C | Cardiovascular phenotype, Hypercholesterolemia, familial, 4 | Uncertain significance (May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25889580
- GRCh38:
- Chr1:25563089
| LDLRAP1 | | Hypercholesterolemia, familial, 4, Cardiovascular phenotype | Likely benign (Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25889177
- GRCh38:
- Chr1:25562686
| LDLRAP1 | A168T | not specified, Hypercholesterolemia, familial, 4, Cardiovascular phenotype
| Uncertain significance (Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25889142
- GRCh38:
- Chr1:25562651
| LDLRAP1 | A156V | Cardiovascular phenotype, Hypercholesterolemia, familial, 4 | Uncertain significance (Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25870231
- GRCh38:
- Chr1:25543740
| LDLRAP1 | | Cardiovascular phenotype, Hypercholesterolemia, familial, 4 | Likely benign (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25893406
- GRCh38:
- Chr1:25566915
| LDLRAP1 | A284T | not specified, Hypercholesterolemia, familial, 4 | Uncertain significance (Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25890192
- GRCh38:
- Chr1:25563701
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jan 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883692
- GRCh38:
- Chr1:25557201
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25893417
- GRCh38:
- Chr1:25566926
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881413
- GRCh38:
- Chr1:25554922
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889556
- GRCh38:
- Chr1:25563065
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889131
- GRCh38:
- Chr1:25562640
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890169
- GRCh38:
- Chr1:25563678
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Oct 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890159
- GRCh38:
- Chr1:25563668
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880528
- GRCh38:
- Chr1:25554037
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881398
- GRCh38:
- Chr1:25554907
| LDLRAP1 | | Hypercholesterolemia, familial, 4, Cardiovascular phenotype | Likely benign (Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25891708
- GRCh38:
- Chr1:25565217
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889214
- GRCh38:
- Chr1:25562723
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889571
- GRCh38:
- Chr1:25563080
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Oct 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25893444
- GRCh38:
- Chr1:25566953
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Nov 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25890138
- GRCh38:
- Chr1:25563647
| LDLRAP1 | | not specified, Hypercholesterolemia, familial, 4 | Conflicting interpretations of pathogenicity (Jan 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:25883743
- GRCh38:
- Chr1:25557252
| LDLRAP1 | | Cardiovascular phenotype, Hypercholesterolemia, familial, 4 | Likely benign (Aug 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25880405
- GRCh38:
- Chr1:25553914
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881380
- GRCh38:
- Chr1:25554889
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Nov 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891681
- GRCh38:
- Chr1:25565190
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881471
- GRCh38:
- Chr1:25554980
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Oct 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889634
- GRCh38:
- Chr1:25563143
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25889616
- GRCh38:
- Chr1:25563125
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870210
- GRCh38:
- Chr1:25543719
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891678
- GRCh38:
- Chr1:25565187
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880568
- GRCh38:
- Chr1:25554077
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891659
- GRCh38:
- Chr1:25565168
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870252
- GRCh38:
- Chr1:25543761
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891690
- GRCh38:
- Chr1:25565199
| LDLRAP1 | | Hypercholesterolemia, familial, 4, Cardiovascular phenotype | Likely benign (Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25870243
- GRCh38:
- Chr1:25543752
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (May 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891667
- GRCh38:
- Chr1:25565176
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jul 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883698
- GRCh38:
- Chr1:25557207
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870210
- GRCh38:
- Chr1:25543719
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Nov 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25891656-25891657
- GRCh38:
- Chr1:25565165-25565166
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Benign (Jul 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25881347
- GRCh38:
- Chr1:25554856
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25883750
- GRCh38:
- Chr1:25557259
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25880543
- GRCh38:
- Chr1:25554052
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25870213
- GRCh38:
- Chr1:25543722
| LDLRAP1 | | Hypercholesterolemia, familial, 4, Cardiovascular phenotype | Likely benign (Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:25883768
- GRCh38:
- Chr1:25557277
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:25893471
- GRCh38:
- Chr1:25566980
| LDLRAP1 | | Hypercholesterolemia, familial, 4 | Likely benign (May 8, 2021) | criteria provided, single submitter |