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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 251

  • The following term was not found in ClinVar: Phe165Ala.
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:24707696-41886350
GRCh38:
Chr1:24381206-41401517
A3GALT2, ADGRB2, ADPRS, AGO1, AGO3, AGO4, AHDC1, AK2, AKIRIN1, ARID1A, ATP5IF1, AUNIP, AZIN2, BMP8A, BMP8B, BSDC1, C1orf109, C1orf122, C1orf216, C1orf232, C1orf94, CAP1, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, CITED4, CLIC4, CLSPN, CNKSR1, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, CSMD2, CSMD2-AS1, CTPS1, DCDC2B, DHDDS, DHDDS-AS1, DLGAP3, DNAJC8, DNALI1, EIF3I, EPB41, EPHA10, EVA1B, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, FAM167B, FAM229A, FAM76A, FCN3, FGR, FHL3, FNDC5, FOXO6, FOXO6-AS1, GJA4, GJA9, GJA9-MYCBP, GJB3, GJB4, GJB5, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, HCRTR1, HDAC1, HEYL, HMGB4, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KPNA6, LAPTM5, LCK, LDLRAP1, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, LINC01778, LINC02574, LOC101928728, LOC101929536, LOC105378663, LOC107988049, LOC108254669, LOC109851610, LOC110120621, LOC110120729, LOC110120958, LOC110120969, LOC110121002, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC110594336, LOC111464991, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577582, LOC112577583, LOC112577584, LOC112577585, LOC112577586, LOC112577587, LOC112577588, LOC112577589, LOC112577590, LOC112577591, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC113939988, LOC114803468, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC120893129, LOC120893130, LOC120893131, LOC120893132, LOC646471, LSM10, MACF1, MACO1, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MATN1, MATN1-AS1, MEAF6, MECR, MED18, MFSD2A, MIR1976, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR3917, MIR4254, MIR4255, MIR4420, MIR4425, MIR552, MIR5581, MIR5585, MIR6731, MIR6732, MRPS15, MTF1, MTFR1L, MYCBP, MYCL, MYCL-AS1, NCDN, NCMAP, NCMAP-DT, NDUFS5, NFYC, NFYC-AS1, NIPAL3, NKAIN1, NR0B2, NT5C1A, NUDC, OPRD1, OSCP1, OXCT2, PABPC4, PABPC4-AS1, PAFAH2, PAQR7, PDIK1L, PEF1, PEF1-AS1, PHACTR4, PHC2, PHC2-AS1, PIGV, POU3F1, PPIE, PPP1R8, PPT1, PSMB2, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RBBP4, RCAN3, RCAN3AS, RCC1, RHBDL2, RHCE, RHD, RIMS3, RLF, RNF19B, RNU11, RPA2, RPS6KA1, RRAGC, RSPO1, RSRP1, RUNX3, RUNX3-AS1, S100PBP, SCARNA1, SCMH1, SDC3, SELENON, SERINC2, SESN2, SF3A3, SFN, SFPQ, SH3BGRL3, SH3D21, SLC30A2, SLC9A1, SLFNL1, SLFNL1-AS1, SMAP2, SMIM12, SMPDL3B, SNHG12, SNHG3, SNIP1, SNORA16A, SNORA44, SNORA55, SNORA61, SNORA63C, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRRM1, SRSF4, STK40, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, TAF12, TAF12-DT, TEKT2, TENT5B, TFAP2E, TFAP2E-AS1, THEMIS2, THRAP3, TINAGL1, TMCO2, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM54, TRAPPC3, TRIM62, TRIM63, TRIT1, TRNAU1AP, TRNP1, TSSK3, TXLNA, UBXN11, UTP11, WASF2, WDTC1, WDTC1-DT, XKR8, YARS1, YRDC, YTHDF2, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZC3H12A-DT, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6, ZNF362, ZNF593, ZNF683, ZNF684, ZPLD2P, ZSCAN20
See casesPathogenic
(Jun 1, 2012)
no assertion criteria providedVCV000149963
2.
GRCh38:
Chr1:25320307-25719620
LDLRAP1, MACO1, MAN1C1, RHCE, RHD, RSRP1, SYF2, TMEM50A9q34 microduplication syndromeLikely benign
(Mar 26, 2019)
criteria provided, single submitterVCV000627647
3.
GRCh37:
Chr1:25695702-26267281
GRCh38:
Chr1:25369211-25940790
See casesUncertain significance
(Oct 15, 2012)
no assertion criteria providedVCV000152940
4.
GRCh37:
Chr1:25702769-25913028
GRCh38:
Chr1:25376278-25586537
LDLRAP1, MACO1, RHCESee casesBenign
(Oct 1, 2010)
no assertion criteria providedVCV000153081
5.
GRCh37:
Chr1:25870085
GRCh38:
Chr1:25543594
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296964
6.
GRCh37:
Chr1:25870085
GRCh38:
Chr1:25543594
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296963
7.
GRCh37:
Chr1:25870090
GRCh38:
Chr1:25543599
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296965
8.
GRCh37:
Chr1:25870098
GRCh38:
Chr1:25543607
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296966
9.
GRCh37:
Chr1:25870110
GRCh38:
Chr1:25543619
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875152
10.
GRCh37:
Chr1:25870115
GRCh38:
Chr1:25543624
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000875153
11.
GRCh37:
Chr1:25870120
GRCh38:
Chr1:25543629
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296967
12.
GRCh37:
Chr1:25870122
GRCh38:
Chr1:25543631
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296968
13.
GRCh37:
Chr1:25870131
GRCh38:
Chr1:25543640
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875154
14.
GRCh37:
Chr1:25870144
GRCh38:
Chr1:25543653
LDLRAP1Familial hypercholesterolemia 4Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000296969
15.
GRCh37:
Chr1:25870153
GRCh38:
Chr1:25543662
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296970
16.
GRCh37:
Chr1:25870195
GRCh38:
Chr1:25543704
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 20, 2020)
criteria provided, single submitterVCV000698698
17.
GRCh37:
Chr1:25870210
GRCh38:
Chr1:25543719
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jun 24, 2020)
criteria provided, single submitterVCV001152782
18.
GRCh37:
Chr1:25870213
GRCh38:
Chr1:25543722
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Apr 22, 2020)
criteria provided, single submitterVCV001156766
19.
GRCh37:
Chr1:25870213
GRCh38:
Chr1:25543722
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 29, 2020)
criteria provided, single submitterVCV001154055
20.
GRCh37:
Chr1:25870216
GRCh38:
Chr1:25543725
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001130396
21.
GRCh37:
Chr1:25870216
GRCh38:
Chr1:25543725
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemiaLikely benign
(Nov 15, 2019)
criteria provided, single submitterVCV000795424
22.
GRCh37:
Chr1:25870223
GRCh38:
Chr1:25543732
LDLRAP1I12VFamilial hypercholesterolemia, Familial hypercholesterolemia 4Uncertain significance
(Feb 7, 2018)
criteria provided, single submitterVCV000581619
23.
GRCh37:
Chr1:25870234
GRCh38:
Chr1:25543743
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Oct 26, 2020)
criteria provided, conflicting interpretationsVCV000296971
24.
GRCh37:
Chr1:25870237
GRCh38:
Chr1:25543746
LDLRAP1S16Rnot specifiedUncertain significance
(Mar 10, 2020)
criteria provided, single submitterVCV000918122
25.
GRCh37:
Chr1:25870240
GRCh38:
Chr1:25543749
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jun 1, 2020)
criteria provided, single submitterVCV001079902
26.
GRCh37:
Chr1:25870253-25870254
GRCh38:
Chr1:25543762-25543763
LDLRAP1G25fsFamilial hypercholesterolemia 4Pathogenic
(Mar 14, 2020)
criteria provided, single submitterVCV000947831
27.
GRCh37:
Chr1:25870253
GRCh38:
Chr1:25543762
LDLRAP1W22RFamilial hypercholesterolemia 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296972
28.
GRCh37:
Chr1:25870254
GRCh38:
Chr1:25543763
LDLRAP1G24fsnot provided, Familial hypercholesterolemia 4Pathogenic/Likely pathogenic
(Oct 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000468290
29.
GRCh37:
Chr1:25870254
GRCh38:
Chr1:25543763
LDLRAP1W22*Familial hypercholesterolemia 4Pathogenic
(Sep 9, 2020)
criteria provided, single submitterVCV000004773
30.
GRCh37:
Chr1:25870255
GRCh38:
Chr1:25543764
LDLRAP1W22Cnot providedUncertain significance
(Jun 1, 2018)
criteria provided, single submitterVCV000806090
31.
GRCh37:
Chr1:25870258
GRCh38:
Chr1:25543767
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jan 20, 2020)
criteria provided, single submitterVCV001159633
32.
GRCh37:
Chr1:25870261
GRCh38:
Chr1:25543770
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Apr 24, 2020)
criteria provided, single submitterVCV001082393
33.
GRCh37:
Chr1:25870261-25870262
GRCh38:
Chr1:25543770-25543771
LDLRAP1G26fsFamilial hypercholesterolemia 4Pathogenic
(May 18, 2001)
no assertion criteria providedVCV000004777
34.
GRCh37:
Chr1:25870264
GRCh38:
Chr1:25543773
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemia, not provided
Conflicting interpretations of pathogenicity
(Oct 26, 2020)
criteria provided, conflicting interpretationsVCV000296973
35.
GRCh37:
Chr1:25870265
GRCh38:
Chr1:25543774
LDLRAP1G26SFamilial hypercholesterolemia 4Uncertain significance
(May 7, 2019)
criteria provided, single submitterVCV000944672
36.
GRCh37:
Chr1:25870267
GRCh38:
Chr1:25543776
LDLRAP1Familial hypercholesterolemia, Familial hypercholesterolemia 4Likely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000699049
37.
GRCh37:
Chr1:25870285
GRCh38:
Chr1:25543794
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876116
38.
GRCh37:
Chr1:25880409
GRCh38:
Chr1:25553918
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Nov 20, 2019)
criteria provided, single submitterVCV001144162
39.
GRCh37:
Chr1:25880412
GRCh38:
Chr1:25553921
LDLRAP1Familial hypercholesterolemia 4Pathogenic
(Aug 27, 2020)
criteria provided, single submitterVCV000004779
40.
GRCh37:
Chr1:25880417
GRCh38:
Chr1:25553926
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 16, 2019)
criteria provided, single submitterVCV001090213
41.
GRCh37:
Chr1:25880434-25880435
GRCh38:
Chr1:25553943-25553944
LDLRAP1T38fsnot provided, Familial hypercholesterolemia 4Pathogenic/Likely pathogenic
(May 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000817252
42.
GRCh37:
Chr1:25880437
GRCh38:
Chr1:25553946
LDLRAP1T38MFamilial hypercholesterolemia 4Uncertain significance
(Jul 22, 2019)
criteria provided, single submitterVCV000965092
43.
GRCh37:
Chr1:25880438
GRCh38:
Chr1:25553947
LDLRAP1Familial hypercholesterolemia 4Likely benign
(May 14, 2020)
criteria provided, single submitterVCV001153168
44.
GRCh37:
Chr1:25880438
GRCh38:
Chr1:25553947
LDLRAP1Familial hypercholesterolemia, Familial hypercholesterolemia 4Likely benign
(Nov 18, 2020)
criteria provided, single submitterVCV000696641
45.
GRCh37:
Chr1:25880439
GRCh38:
Chr1:25553948
LDLRAP1R39WFamilial hypercholesterolemia 4Uncertain significance
(Jan 25, 2019)
criteria provided, single submitterVCV000406209
46.
GRCh37:
Chr1:25880440
GRCh38:
Chr1:25553949
LDLRAP1R39QFamilial hypercholesterolemia 4Uncertain significance
(Aug 31, 2019)
criteria provided, single submitterVCV000941822
47.
GRCh37:
Chr1:25880446
GRCh38:
Chr1:25553955
LDLRAP1T41Mnot provided, Familial hypercholesterolemia 4, Familial hypercholesterolemia
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000646841
48.
GRCh37:
Chr1:25880447
GRCh38:
Chr1:25553956
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 21, 2019)
criteria provided, single submitterVCV001124554
49.
GRCh37:
Chr1:25880465
GRCh38:
Chr1:25553974
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemia, not provided
Likely benign
(Oct 26, 2020)
criteria provided, single submitterVCV000705792
50.
GRCh37:
Chr1:25880480
GRCh38:
Chr1:25553989
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 29, 2020)
criteria provided, single submitterVCV001097001
51.
GRCh37:
Chr1:25880491
GRCh38:
Chr1:25554000
LDLRAP1T56MFamilial hypercholesterolemia 4Uncertain significance
(Oct 26, 2019)
criteria provided, single submitterVCV000968442
52.
GRCh37:
Chr1:25880492
GRCh38:
Chr1:25554001
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001086054
53.
GRCh37:
Chr1:25880510
GRCh38:
Chr1:25554019
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 2, 2019)
criteria provided, single submitterVCV001121399
54.
GRCh37:
Chr1:25880516
GRCh38:
Chr1:25554025
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 15, 2020)
criteria provided, single submitterVCV001113370
55.
GRCh37:
Chr1:25880525
GRCh38:
Chr1:25554034
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000296974
56.
GRCh37:
Chr1:25880531
GRCh38:
Chr1:25554040
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Oct 20, 2020)
criteria provided, single submitterVCV001104600
57.
GRCh37:
Chr1:25880532
GRCh38:
Chr1:25554041
LDLRAP1A70TFamilial hypercholesterolemia 4Uncertain significance
(Sep 20, 2019)
criteria provided, single submitterVCV000937981
58.
GRCh37:
Chr1:25880546
GRCh38:
Chr1:25554055
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jun 21, 2020)
criteria provided, single submitterVCV001079936
59.
GRCh37:
Chr1:25880547
GRCh38:
Chr1:25554056
LDLRAP1V75Mnot specifiedUncertain significance
(Jan 20, 2020)
criteria provided, single submitterVCV000917584
60.
GRCh37:
Chr1:25880551
GRCh38:
Chr1:25554060
LDLRAP1A76GFamilial hypercholesterolemia 4Uncertain significance
(Jul 15, 2019)
criteria provided, single submitterVCV000648414
61.
GRCh37:
Chr1:25880552
GRCh38:
Chr1:25554061
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001095918
62.
GRCh37:
Chr1:25880563
GRCh38:
Chr1:25554072
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 1, 2019)
criteria provided, single submitterVCV001085241
63.
GRCh37:
Chr1:25881346
GRCh38:
Chr1:25554855
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Apr 22, 2019)
criteria provided, single submitterVCV001087838
64.
GRCh37:
Chr1:25881354
GRCh38:
Chr1:25554863
LDLRAP1K79EFamilial hypercholesterolemia 4Uncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000568256
65.
GRCh37:
Chr1:25881385-25881386
GRCh38:
Chr1:25554894-25554895
LDLRAP1L90fsFamilial hypercholesterolemia 4Pathogenic
(Sep 12, 2019)
criteria provided, single submitterVCV000935692
66.
GRCh37:
Chr1:25881386
GRCh38:
Chr1:25554895
LDLRAP1Familial hypercholesterolemia 4, not providedLikely benign
(Dec 5, 2018)
criteria provided, single submitterVCV000796497
67.
GRCh37:
Chr1:25881395
GRCh38:
Chr1:25554904
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000876117
68.
GRCh37:
Chr1:25881403
GRCh38:
Chr1:25554912
LDLRAP1R95QFamilial hypercholesterolemia 4, not specified, not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2021)
criteria provided, conflicting interpretationsVCV000296975
69.
GRCh37:
Chr1:25881410
GRCh38:
Chr1:25554919
LDLRAP1Familial hypercholesterolemia 4Likely benign
(May 8, 2019)
criteria provided, single submitterVCV001110617
70.
GRCh37:
Chr1:25881416
GRCh38:
Chr1:25554925
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 17, 2020)
criteria provided, single submitterVCV001122346
71.
GRCh37:
Chr1:25881419
GRCh38:
Chr1:25554928
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 15, 2020)
criteria provided, single submitterVCV001137139
72.
GRCh37:
Chr1:25881425
GRCh38:
Chr1:25554934
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 17, 2020)
criteria provided, single submitterVCV001121571
73.
GRCh37:
Chr1:25881449
GRCh38:
Chr1:25554958
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Aug 20, 2020)
criteria provided, single submitterVCV000697656
74.
GRCh37:
Chr1:25881458
GRCh38:
Chr1:25554967
LDLRAP1I113Mnot specifiedUncertain significance
(Dec 21, 2020)
criteria provided, single submitterVCV000992479
75.
GRCh37:
Chr1:25881467
GRCh38:
Chr1:25554976
LDLRAP1Familial hypercholesterolemia 4, Familial hypercholesterolemia, not provided
Conflicting interpretations of pathogenicity
(Jul 30, 2020)
criteria provided, conflicting interpretationsVCV000567026
76.
GRCh37:
Chr1:25883636
GRCh38:
Chr1:25557145
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Jul 23, 2020)
criteria provided, single submitterVCV001153129
77.
GRCh37:
Chr1:25883637
GRCh38:
Chr1:25557146
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 22, 2019)
criteria provided, single submitterVCV001116410
78.
GRCh37:
Chr1:25883662
GRCh38:
Chr1:25557171
LDLRAP1not provided, Familial hypercholesterolemia 4Likely benign
(Oct 29, 2018)
criteria provided, single submitterVCV000793385
79.
GRCh37:
Chr1:25883674
GRCh38:
Chr1:25557183
LDLRAP1Familial hypercholesterolemia 4Conflicting interpretations of pathogenicity
(Dec 5, 2020)
criteria provided, conflicting interpretationsVCV000296976
80.
GRCh37:
Chr1:25883689
GRCh38:
Chr1:25557198
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Feb 20, 2020)
criteria provided, single submitterVCV000794049
81.
GRCh37:
Chr1:25883695
GRCh38:
Chr1:25557204
LDLRAP1not provided, not specified, Familial hypercholesterolemia 4
Conflicting interpretations of pathogenicity
(Dec 6, 2020)
criteria provided, conflicting interpretationsVCV000468287
82.
GRCh37:
Chr1:25883696
GRCh38:
Chr1:25557205
LDLRAP1A133TFamilial hypercholesterolemia, Familial hypercholesterolemia 4Uncertain significance
(Dec 22, 2018)
criteria provided, single submitterVCV000642366
83.
GRCh37:
Chr1:25883699
GRCh38:
Chr1:25557208
LDLRAP1Q134*Familial hypercholesterolemia 4Pathogenic
(Oct 3, 2020)
criteria provided, single submitterVCV001074905
84.
GRCh37:
Chr1:25883701
GRCh38:
Chr1:25557210
LDLRAP1S135fsFamilial hypercholesterolemia 4Pathogenic
(Sep 23, 2020)
criteria provided, single submitterVCV001072018
85.
GRCh37:
Chr1:25883705
GRCh38:
Chr1:25557214
LDLRAP1Q136*Familial hypercholesterolemia 4Pathogenic
(Nov 16, 2018)
criteria provided, single submitterVCV000004775
86.
GRCh37:
Chr1:25883712
GRCh38:
Chr1:25557221
LDLRAP1N138Snot providedUncertain significance
(Apr 1, 2017)
criteria provided, single submitterVCV000806091
87.
GRCh37:
Chr1:25883713
GRCh38:
Chr1:25557222
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296977
88.
GRCh37:
Chr1:25883722
GRCh38:
Chr1:25557231
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Nov 26, 2020)
criteria provided, single submitterVCV001135309
89.
GRCh37:
Chr1:25883722
GRCh38:
Chr1:25557231
LDLRAP1Familial hypercholesterolemia 4, not providedConflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000296978
90.
GRCh37:
Chr1:25883725
GRCh38:
Chr1:25557234
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Mar 25, 2020)
criteria provided, single submitterVCV001131196
91.
GRCh37:
Chr1:25883728
GRCh38:
Chr1:25557237
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Sep 28, 2019)
criteria provided, single submitterVCV001096685
92.
GRCh37:
Chr1:25883728
GRCh38:
Chr1:25557237
LDLRAP1C143*not providedPathogenic
(Dec 17, 2018)
criteria provided, single submitterVCV000620519
93.
GRCh37:
Chr1:25883729-25883730
GRCh38:
Chr1:25557238-25557239
LDLRAP1H144fsFamilial hypercholesterolemia 4Pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000662264
94.
GRCh37:
Chr1:25883731
GRCh38:
Chr1:25557240
LDLRAP1Familial hypercholesterolemia 4, not specifiedBenign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000536200
95.
GRCh37:
Chr1:25883731-25883732
GRCh38:
Chr1:25557240-25557241
LDLRAP1A145fsFamilial hypercholesterolemia 4Pathogenic
(May 18, 2001)
no assertion criteria providedVCV000004774
96.
GRCh37:
Chr1:25883750
GRCh38:
Chr1:25557259
LDLRAP1R151WFamilial hypercholesterolemia 4, not providedUncertain significance
(May 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000296979
97.
GRCh37:
Chr1:25883751
GRCh38:
Chr1:25557260
LDLRAP1R151QFamilial hypercholesterolemia 1, Familial hypercholesterolemia 4Uncertain significance
(Aug 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000684845
98.
GRCh37:
Chr1:25883760
GRCh38:
Chr1:25557269
LDLRAP1Familial hypercholesterolemia 4Pathogenic
(Jan 1, 2005)
no assertion criteria providedVCV000004780
99.
GRCh37:
Chr1:25883764
GRCh38:
Chr1:25557273
LDLRAP1Familial hypercholesterolemia 4Uncertain significance
(Jun 29, 2019)
criteria provided, single submitterVCV000966557
100.
GRCh37:
Chr1:25883765
GRCh38:
Chr1:25557274
LDLRAP1Familial hypercholesterolemia 4Likely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001134119
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