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Items: 1 to 100 of 460

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:56518357
GRCh38:
Chr16:56484445
BBS2Bardet-Biedl syndrome 2Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000319846
2.
GRCh37:
Chr16:56518582
GRCh38:
Chr16:56484670
BBS2Bardet-Biedl syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000319847
3.
GRCh37:
Chr16:56518639
GRCh38:
Chr16:56484727
BBS2Bardet-Biedl syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887177
4.
GRCh37:
Chr16:56518660
GRCh38:
Chr16:56484748
BBS2not specified, Bardet-Biedl syndrome 2, not provided
Benign/Likely benign
(May 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000261976
5.
GRCh37:
Chr16:56518673
GRCh38:
Chr16:56484761
BBS2Bardet-Biedl syndrome 2Uncertain significance
(Sep 5, 2017)
criteria provided, single submitterVCV000553716
6.
GRCh37:
Chr16:56518679
GRCh38:
Chr16:56484767
BBS2Bardet-Biedl syndromeLikely benign
(Sep 20, 2020)
criteria provided, single submitterVCV001106542
7.
GRCh37:
Chr16:56518682
GRCh38:
Chr16:56484770
BBS2Bardet-Biedl syndromeLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV001124414
8.
GRCh37:
Chr16:56518695
GRCh38:
Chr16:56484783
BBS2R715QRetinitis pigmentosa 74, Bardet-Biedl syndrome 2Uncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195901
9.
GRCh37:
Chr16:56518696
GRCh38:
Chr16:56484784
BBS2R715*Bardet-Biedl syndrome 2Uncertain significance
(Sep 26, 2017)
criteria provided, single submitterVCV000554117
10.
GRCh37:
Chr16:56518710
GRCh38:
Chr16:56484798
BBS2L710PBardet-Biedl syndromeUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV000998613
11.
GRCh37:
Chr16:56518711
GRCh38:
Chr16:56484799
BBS2Bardet-Biedl syndromeLikely benign
(Jun 22, 2020)
criteria provided, single submitterVCV001159793
12.
GRCh37:
Chr16:56518732
GRCh38:
Chr16:56484820
BBS2R703*Inborn genetic diseases, Retinitis pigmentosa 74, Bardet-Biedl syndrome,
Bardet-Biedl syndrome 2
Pathogenic/Likely pathogenic
(Apr 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000496478
13.
GRCh37:
Chr16:56518733
GRCh38:
Chr16:56484821
BBS2Bardet-Biedl syndromeLikely benign
(May 3, 2019)
criteria provided, single submitterVCV001093149
14.
GRCh37:
Chr16:56518751
GRCh38:
Chr16:56484839
BBS2Bardet-Biedl syndrome 2, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Sep 7, 2020)
criteria provided, conflicting interpretationsVCV000319848
15.
GRCh37:
Chr16:56518755
GRCh38:
Chr16:56484843
BBS2I695TBardet-Biedl syndromeUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV000963151
16.
GRCh37:
Chr16:56518760
GRCh38:
Chr16:56484848
BBS2Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000319849
17.
GRCh37:
Chr16:56518780
GRCh38:
Chr16:56484868
BBS2Bardet-Biedl syndrome 2, Retinal dystrophyLikely pathogenic
(Jan 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000555474
18.
GRCh37:
Chr16:56518783
GRCh38:
Chr16:56484871
BBS2Bardet-Biedl syndromeLikely benign
(Dec 11, 2019)
criteria provided, single submitterVCV001097152
19.
GRCh37:
Chr16:56518784
GRCh38:
Chr16:56484872
BBS2Bardet-Biedl syndromeLikely benign
(Nov 27, 2020)
criteria provided, single submitterVCV001126541
20.
GRCh37:
Chr16:56518784-56518787
GRCh38:
Chr16:56484872-56484875
BBS2Bardet-Biedl syndromeLikely benign
(Feb 19, 2020)
criteria provided, single submitterVCV001103827
21.
GRCh37:
Chr16:56518786-56518788
GRCh38:
Chr16:56484874-56484876
BBS2Bardet-Biedl syndromeLikely benign
(Mar 30, 2019)
criteria provided, single submitterVCV001096578
22.
GRCh37:
Chr16:56518787
GRCh38:
Chr16:56484875
BBS2Bardet-Biedl syndromeLikely benign
(Jan 6, 2020)
criteria provided, single submitterVCV001100052
23.
GRCh37:
Chr16:56518788
GRCh38:
Chr16:56484876
BBS2Bardet-Biedl syndromeLikely benign
(Nov 23, 2019)
criteria provided, single submitterVCV001090547
24.
GRCh37:
Chr16:56518789
GRCh38:
Chr16:56484877
BBS2Bardet-Biedl syndromeLikely benign
(Mar 1, 2020)
criteria provided, single submitterVCV001135234
25.
GRCh37:
Chr16:56519097
GRCh38:
Chr16:56485185
BBS2not providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001263476
26.
GRCh37:
Chr16:56519423
GRCh38:
Chr16:56485511
BBS2not providedBenign
(May 10, 2021)
criteria provided, single submitterVCV001279873
27.
GRCh37:
Chr16:56519489-56519490
GRCh38:
Chr16:56485577-56485578
BBS2Bardet-Biedl syndromeLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001128119
28.
GRCh37:
Chr16:56519495
GRCh38:
Chr16:56485583
BBS2Bardet-Biedl syndromeLikely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001100696
29.
GRCh37:
Chr16:56519501
GRCh38:
Chr16:56485589
BBS2Bardet-Biedl syndromePathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001073654
30.
GRCh37:
Chr16:56519502-56519503
GRCh38:
Chr16:56485590-56485591
BBS2V687fsBardet-Biedl syndrome 2Uncertain significance
(May 12, 2017)
criteria provided, single submitterVCV000551970
31.
GRCh37:
Chr16:56519505
GRCh38:
Chr16:56485593
BBS2R686WBardet-Biedl syndromeUncertain significance
(Sep 7, 2019)
criteria provided, single submitterVCV000956721
32.
GRCh37:
Chr16:56519515
GRCh38:
Chr16:56485603
BBS2Bardet-Biedl syndromeLikely benign
(Jun 13, 2019)
criteria provided, single submitterVCV001121467
33.
GRCh37:
Chr16:56519523
GRCh38:
Chr16:56485611
BBS2Q680*Bardet-Biedl syndrome 2Likely pathogenic
(May 30, 2018)
criteria provided, single submitterVCV000558537
34.
GRCh37:
Chr16:56519533
GRCh38:
Chr16:56485621
BBS2Bardet-Biedl syndromeLikely benign
(May 20, 2020)
criteria provided, single submitterVCV001157798
35.
GRCh37:
Chr16:56519545
GRCh38:
Chr16:56485633
BBS2Bardet-Biedl syndromeLikely benign
(Sep 11, 2020)
criteria provided, single submitterVCV001104121
36.
GRCh37:
Chr16:56519548
GRCh38:
Chr16:56485636
BBS2N671KBardet-Biedl syndromeUncertain significance
(Feb 22, 2020)
criteria provided, single submitterVCV001047197
37.
GRCh37:
Chr16:56519562
GRCh38:
Chr16:56485650
BBS2E667QBardet-Biedl syndromeUncertain significance
(Nov 6, 2019)
criteria provided, single submitterVCV000951358
38.
GRCh37:
Chr16:56519572
GRCh38:
Chr16:56485660
BBS2Bardet-Biedl syndromeLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV001145016
39.
GRCh37:
Chr16:56519574-56519575
GRCh38:
Chr16:56485662-56485663
BBS2N663*Bardet-Biedl syndromePathogenic
(Jul 15, 2019)
criteria provided, single submitterVCV000943913
40.
GRCh37:
Chr16:56519579
GRCh38:
Chr16:56485667
BBS2R661HBardet-Biedl syndrome 2, Bardet-Biedl syndromeUncertain significance
(Oct 24, 2019)
criteria provided, single submitterVCV000839337
41.
GRCh37:
Chr16:56519588
GRCh38:
Chr16:56485676
BBS2Y658CBardet-Biedl syndrome 2, Retinitis pigmentosa 74Uncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001195902
42.
GRCh37:
Chr16:56519592
GRCh38:
Chr16:56485680
BBS2G657*Bardet-Biedl syndrome 2Likely pathogenic
(Oct 24, 2017)
criteria provided, single submitterVCV000554529
43.
GRCh37:
Chr16:56519608
GRCh38:
Chr16:56485696
BBS2Bardet-Biedl syndrome, not providedUncertain significance
(Nov 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000285607
44.
GRCh37:
Chr16:56519609-56519615
GRCh38:
Chr16:56485697-56485703
BBS2D649fsBardet-Biedl syndrome 2Likely pathogenic
(Oct 25, 2017)
criteria provided, single submitterVCV000554565
45.
GRCh37:
Chr16:56519611
GRCh38:
Chr16:56485699
BBS2Bardet-Biedl syndromeLikely benign
(Oct 8, 2020)
criteria provided, single submitterVCV001110982
46.
GRCh37:
Chr16:56519617
GRCh38:
Chr16:56485705
BBS2Bardet-Biedl syndromeLikely benign
(Dec 30, 2019)
criteria provided, single submitterVCV001081173
47.
GRCh37:
Chr16:56519627
GRCh38:
Chr16:56485715
BBS2M645TBardet-Biedl syndrome, Bardet-Biedl syndrome 2Uncertain significance
(Feb 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000888429
48.
GRCh37:
Chr16:56519629
GRCh38:
Chr16:56485717
BBS2Bardet-Biedl syndromeLikely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001085429
49.
GRCh37:
Chr16:56519629-56519630
GRCh38:
Chr16:56485717-56485718
BBS2Y644*not provided, Bardet-Biedl syndromePathogenic
(Sep 30, 2019)
criteria provided, single submitterVCV000969600
50.
GRCh37:
Chr16:56519633
GRCh38:
Chr16:56485721
BBS2R643HBardet-Biedl syndrome 2Uncertain significance
(May 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000553014
51.
GRCh37:
Chr16:56519634
GRCh38:
Chr16:56485722
BBS2R643CBardet-Biedl syndromeUncertain significance
(Sep 18, 2020)
criteria provided, single submitterVCV000858439
52.
GRCh37:
Chr16:56519651
GRCh38:
Chr16:56485739
BBS2Bardet-Biedl syndrome 2Likely pathogenic
(Mar 19, 2018)
criteria provided, single submitterVCV000557254
53.
GRCh37:
Chr16:56519651-56539861
GRCh38:
Chr16:56485739-56505949
BBS2Bardet-Biedl syndromePathogenicno assertion criteria providedVCV000266085
54.
GRCh37:
Chr16:56519660
GRCh38:
Chr16:56485748
BBS2Bardet-Biedl syndromeLikely benign
(Jul 29, 2020)
criteria provided, single submitterVCV001155437
55.
GRCh37:
Chr16:56529926-56538197
GRCh38:
Chr16:56496014-56504285
BBS2Bardet-Biedl syndromeLikely pathogenic
(Jul 20, 2016)
no assertion criteria providedVCV000431738
56.
GRCh37:
Chr16:56530750
GRCh38:
Chr16:56496838
BBS2not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001236537
57.
GRCh37:
Chr16:56530870
GRCh38:
Chr16:56496958
BBS2Bardet-Biedl syndrome 2Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000319850
58.
GRCh37:
Chr16:56530879-56530880
GRCh38:
Chr16:56496967-56496968
BBS2M637fsRetinal dystrophy, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
Pathogenic/Likely pathogenic
(Jan 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000552850
59.
GRCh37:
Chr16:56530880
GRCh38:
Chr16:56496968
BBS2M637LBardet-Biedl syndromeUncertain significance
(Mar 25, 2020)
criteria provided, single submitterVCV001019357
60.
GRCh37:
Chr16:56530887
GRCh38:
Chr16:56496975
BBS2M634IBardet-Biedl syndrome 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000319851
61.
GRCh37:
Chr16:56530894
GRCh38:
Chr16:56496982
BBS2R632HBardet-Biedl syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888430
62.
GRCh37:
Chr16:56530894
GRCh38:
Chr16:56496982
BBS2R632PRetinitis pigmentosa, Bardet-Biedl syndrome, not provided,
BBS2-Related Disorders, Retinal dystrophy, Retinitis pigmentosa 74,
Bardet-Biedl syndrome 2
Pathogenic
(Apr 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000004578
63.
GRCh37:
Chr16:56530895
GRCh38:
Chr16:56496983
BBS2R632CBardet-Biedl syndrome, Bardet-Biedl syndrome 2Uncertain significance
(Dec 23, 2019)
criteria provided, multiple submitters, no conflictsVCV000319852
64.
GRCh37:
Chr16:56530898
GRCh38:
Chr16:56496986
BBS2A631TBardet-Biedl syndrome 2Uncertain significance
(Mar 15, 2017)
criteria provided, single submitterVCV000550939
65.
GRCh37:
Chr16:56530899
GRCh38:
Chr16:56496987
BBS2not provided, Bardet-Biedl syndrome 2Likely benign
(Dec 5, 2018)
criteria provided, single submitterVCV000798516
66.
GRCh37:
Chr16:56530904
GRCh38:
Chr16:56496992
BBS2E629KBardet-Biedl syndrome, Bardet-Biedl syndrome 2Uncertain significance
(Dec 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000550587
67.
GRCh37:
Chr16:56530910
GRCh38:
Chr16:56496998
BBS2G627RBardet-Biedl syndromeUncertain significance
(Oct 2, 2020)
criteria provided, single submitterVCV001015292
68.
GRCh37:
Chr16:56530911
GRCh38:
Chr16:56496999
BBS2Bardet-Biedl syndromeLikely benign
(Nov 1, 2020)
criteria provided, single submitterVCV001131757
69.
GRCh37:
Chr16:56530916
GRCh38:
Chr16:56497004
BBS2Bardet-Biedl syndromeLikely benign
(Sep 12, 2019)
criteria provided, single submitterVCV001103470
70.
GRCh37:
Chr16:56530925
GRCh38:
Chr16:56497013
BBS2R622*Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, not provided
Pathogenic/Likely pathogenic
(Jul 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000284737
71.
GRCh37:
Chr16:56530937
GRCh38:
Chr16:56497025
BBS2S618ABardet-Biedl syndromeUncertain significance
(Aug 19, 2020)
criteria provided, single submitterVCV000938378
72.
GRCh37:
Chr16:56530938
GRCh38:
Chr16:56497026
BBS2Bardet-Biedl syndromeLikely benign
(Sep 24, 2020)
criteria provided, single submitterVCV001144603
73.
GRCh37:
Chr16:56530945-56530946
GRCh38:
Chr16:56497033-56497034
BBS2A615fsBardet-Biedl syndromePathogenic
(Aug 7, 2020)
criteria provided, single submitterVCV000838085
74.
GRCh37:
Chr16:56530971
GRCh38:
Chr16:56497059
BBS2Bardet-Biedl syndromeLikely benign
(Aug 24, 2020)
criteria provided, single submitterVCV001112408
75.
GRCh37:
Chr16:56530973
GRCh38:
Chr16:56497061
BBS2V606LBardet-Biedl syndromeUncertain significance
(Mar 20, 2020)
criteria provided, single submitterVCV001058420
76.
GRCh37:
Chr16:56530975
GRCh38:
Chr16:56497063
BBS2S605*Bardet-Biedl syndrome 2, Bardet-Biedl syndromePathogenic/Likely pathogenic
(Oct 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000553335
77.
GRCh37:
Chr16:56530980-56530981
GRCh38:
Chr16:56497068-56497069
BBS2Y603fsBardet-Biedl syndromePathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV000945900
78.
GRCh37:
Chr16:56530981
GRCh38:
Chr16:56497069
BBS2Y603CBardet-Biedl syndromeUncertain significance
(Sep 4, 2019)
criteria provided, single submitterVCV000965647
79.
GRCh37:
Chr16:56530983
GRCh38:
Chr16:56497071
BBS2Bardet-Biedl syndrome, not providedLikely benign
(Dec 22, 2018)
criteria provided, single submitterVCV000700784
80.
GRCh37:
Chr16:56530999
GRCh38:
Chr16:56497087
BBS2not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794121
81.
GRCh37:
Chr16:56531001
GRCh38:
Chr16:56497089
BBS2Bardet-Biedl syndromeLikely benign
(Jul 28, 2020)
criteria provided, single submitterVCV001125517
82.
GRCh37:
Chr16:56531185
GRCh38:
Chr16:56497273
BBS2not providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001240990
83.
GRCh37:
Chr16:56531643
GRCh38:
Chr16:56497731
BBS2Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Conflicting interpretations of pathogenicity
(Aug 20, 2020)
criteria provided, conflicting interpretationsVCV000319853
84.
GRCh37:
Chr16:56531648
GRCh38:
Chr16:56497736
BBS2Bardet-Biedl syndromeLikely benign
(Nov 12, 2020)
criteria provided, single submitterVCV001105411
85.
GRCh37:
Chr16:56531654
GRCh38:
Chr16:56497742
BBS2Bardet-Biedl syndrome 2Likely pathogenic
(Feb 28, 2017)
criteria provided, single submitterVCV000550906
86.
GRCh37:
Chr16:56531655
GRCh38:
Chr16:56497743
BBS2Bardet-Biedl syndromeLikely pathogenic
(Sep 9, 2020)
criteria provided, single submitterVCV000971675
87.
GRCh37:
Chr16:56531672
GRCh38:
Chr16:56497760
BBS2R594*Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Pathogenic/Likely pathogenic
(Oct 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000550489
88.
GRCh37:
Chr16:56531674
GRCh38:
Chr16:56497762
BBS2L593*Bardet-Biedl syndrome 2Likely pathogenic
(Mar 26, 2019)
no assertion criteria providedVCV000984001
89.
GRCh37:
Chr16:56531675
GRCh38:
Chr16:56497763
BBS2not provided, Bardet-Biedl syndromeLikely benign
(Dec 4, 2018)
criteria provided, single submitterVCV000751393
90.
GRCh37:
Chr16:56531682
GRCh38:
Chr16:56497770
BBS2F590fsBardet-Biedl syndrome 2, Bardet-Biedl syndromePathogenic/Likely pathogenic
(Nov 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000035755
91.
GRCh37:
Chr16:56531693
GRCh38:
Chr16:56497781
BBS2P587SBardet-Biedl syndromeUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV000837285
92.
GRCh37:
Chr16:56531724
GRCh38:
Chr16:56497812
BBS2Bardet-Biedl syndromeLikely benign
(May 7, 2020)
criteria provided, single submitterVCV001115464
93.
GRCh37:
Chr16:56531727
GRCh38:
Chr16:56497815
BBS2F575fsBardet-Biedl syndrome 2Likely pathogenic
(Jul 22, 2021)
criteria provided, single submitterVCV001210364
94.
GRCh37:
Chr16:56531747
GRCh38:
Chr16:56497835
BBS2Q569*Bardet-Biedl syndrome, Bardet-Biedl syndrome 2Pathogenic
(Apr 24, 2019)
criteria provided, multiple submitters, no conflictsVCV000551008
95.
GRCh37:
Chr16:56531755
GRCh38:
Chr16:56497843
BBS2D566GBardet-Biedl syndrome 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888431
96.
GRCh37:
Chr16:56531762
GRCh38:
Chr16:56497850
BBS2A564TBardet-Biedl syndromeUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000963375
97.
GRCh37:
Chr16:56531766
GRCh38:
Chr16:56497854
BBS2Bardet-Biedl syndromeLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001105214
98.
GRCh37:
Chr16:56531779
GRCh38:
Chr16:56497867
BBS2T558IBardet-Biedl syndromeUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001044521
99.
GRCh37:
Chr16:56531786
GRCh38:
Chr16:56497874
BBS2I556VBardet-Biedl syndrome, Bardet-Biedl syndrome 2Uncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV000852306
100.
GRCh37:
Chr16:56531790
GRCh38:
Chr16:56497878
BBS2I554MBardet-Biedl syndrome 2Uncertain significance
(Feb 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000319854
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