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Links from MedGen

Items: 1 to 100 of 143

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:73029140
GRCh38:
Chr15:72736799
BBS4Q257R, Q406R, Q429RBardet-Biedl syndrome 4Uncertain significance
(Jul 21, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr15:73016879
GRCh38:
Chr15:72724538
BBS4Q157RBardet-Biedl syndrome 4Uncertain significance
(Apr 19, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr15:72987572
GRCh38:
Chr15:72695231
BBS4Bardet-Biedl syndrome 4Uncertain significance
(May 19, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr15:73029245
GRCh38:
Chr15:72736904
BBS4S292C, S441C, S464CBardet-Biedl syndrome 4Uncertain significance
(Jul 21, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr15:73027453
GRCh38:
Chr15:72735112
BBS4Bardet-Biedl syndrome 4Likely pathogenic
(Dec 2, 2021)		criteria provided, single submitter
6.
GRCh37:
Chr15:73028262-73028265
GRCh38:
Chr15:72735921-72735924
BBS4V230fs, V379fs, V402fsBardet-Biedl syndrome 4Likely pathogenic
(Aug 22, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr15:73028239
GRCh38:
Chr15:72735898
BBS4Q371*, Q394*, Q222*Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Pathogenic/Likely pathogenic
(Dec 22, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr15:73016854
GRCh38:
Chr15:72724513
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Aug 12, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr15:73004648
GRCh38:
Chr15:72712307
BBS4A74TBardet-Biedl syndrome 4Pathogenic
(Aug 9, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr15:73028229
GRCh38:
Chr15:72735888
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:73023631
GRCh38:
Chr15:72731290
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr15:73016910
GRCh38:
Chr15:72724569
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr15:73023632
GRCh38:
Chr15:72731291
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr15:72987586-72987587
GRCh38:
Chr15:72695245-72695246
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr15:73028173
GRCh38:
Chr15:72735832
BBS4P372S, P349S, P200SBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:73028307
GRCh38:
Chr15:72735966
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Mar 5, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr15:73007644
GRCh38:
Chr15:72715303
BBS4R78HBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Apr 29, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr15:73028155
GRCh38:
Chr15:72735814
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:73028230
GRCh38:
Chr15:72735889
BBS4A219T, A391T, A368TBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr15:73029917-73029918
GRCh38:
Chr15:72737576-72737577
BBS4K347fs, K519fs, K496fsBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Feb 15, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:73023694
GRCh38:
Chr15:72731353
BBS4V82I, V254I, V231IBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Feb 4, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr15:73028252
GRCh38:
Chr15:72735911
BBS4M226T, M398T, M375TBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr15:73002117
GRCh38:
Chr15:72709776
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr15:73027490
GRCh38:
Chr15:72735149
BBS4K186R, K358R, K335RBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:73023733
GRCh38:
Chr15:72731392
BBS4P244A, P267A, P95ABardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr15:73028291
GRCh38:
Chr15:72735950
BBS4L239P, L388P, L411PBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr15:73029165-73029166
GRCh38:
Chr15:72736824-72736825
BBS4K266*, K415*, K438*Bardet-Biedl syndrome 4Pathogenic
(Jun 18, 2020)		criteria provided, single submitter
28.
GRCh37:
Chr15:73023799
GRCh38:
Chr15:72731458
BBS4Bardet-Biedl syndrome 4, Retinitis pigmentosaUncertain significance
(May 4, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr15:73023710-73023711
GRCh38:
Chr15:72731369-72731370
BBS4Retinitis pigmentosa, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Pathogenic/Likely pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:73028375
GRCh38:
Chr15:72736034
BBS4Bardet-Biedl syndrome 4Benign
(Jul 14, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr15:73024181
GRCh38:
Chr15:72731840
BBS4Bardet-Biedl syndrome 4Benign
(Jul 14, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr15:73021855
GRCh38:
Chr15:72729514
BBS4Bardet-Biedl syndrome 4Benign
(Jul 14, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr15:73029171-73029174
GRCh38:
Chr15:72736830-72736833
BBS4V268fs, V417fs, V440fsBardet-Biedl syndrome, Bardet-Biedl syndrome 4Pathogenic
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr15:73029229
GRCh38:
Chr15:72736888
BBS4Q287*, Q436*, Q459*Bardet-Biedl syndrome 4Likely pathogenic
(Jun 30, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr15:73004615
GRCh38:
Chr15:72712274
BBS4Q63*Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Pathogenic
(Jul 14, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr15:73016849
GRCh38:
Chr15:72724508
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeBenign/Likely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr15:72978610
GRCh38:
Chr15:72686269
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:73015137
GRCh38:
Chr15:72722796
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:73004566
GRCh38:
Chr15:72712225
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely benign
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:73029165
GRCh38:
Chr15:72736824
BBS4Bardet-Biedl syndrome 4, not specified, Bardet-Biedl syndrome
Likely benign
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr15:73021951
GRCh38:
Chr15:72729610
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:73023959
GRCh38:
Chr15:72731618
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr15:73023958
GRCh38:
Chr15:72731617
BBS4L138fs, L287fs, L310fsBardet-Biedl syndrome, Bardet-Biedl syndrome 4Pathogenic/Likely pathogenic
(Feb 4, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:72978593
GRCh38:
Chr15:72686252
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeLikely pathogenic
(Jun 18, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:73015166
GRCh38:
Chr15:72722825
BBS4I146TBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr15:73015157
GRCh38:
Chr15:72722816
BBS4V143DBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:73029244
GRCh38:
Chr15:72736903
BBS4S292P, S441P, S464PBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Dec 21, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr15:73028307
GRCh38:
Chr15:72735966
BBS4E244D, E393D, E416DBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:73029248
GRCh38:
Chr15:72736907
BBS4N293S, N465S, N442SBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr15:73029860
GRCh38:
Chr15:72737519
BBS4P326fs, P475fs, P498fsBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr15:73015168
GRCh38:
Chr15:72722827
BBS4Y147Nnot specified, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
Uncertain significance
(Feb 7, 2023)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:72987558
GRCh38:
Chr15:72695217
BBS4R22QBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr15:73022011
GRCh38:
Chr15:72729670
BBS4P233A, P61ABardet-Biedl syndrome, Bardet-Biedl syndrome 4, Inborn genetic diseases
Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:73027501
GRCh38:
Chr15:72735160
BBS4A362T, A190T, A339TBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr15:73028219-73028221
GRCh38:
Chr15:72735878-72735880
BBS4K217del, K389del, K366delBardet-Biedl syndrome, not provided, Bardet-Biedl syndrome 4
Uncertain significance
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:73028282
GRCh38:
Chr15:72735941
BBS4N236S, N385S, N408SBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:73023954
GRCh38:
Chr15:72731613
BBS4Y308C, Y285C, Y136CBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Apr 20, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr15:73024044
GRCh38:
Chr15:72731703
BBS4G338V, G166V, G315VBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Mar 7, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:73009165
GRCh38:
Chr15:72716824
BBS4A127TBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:73002044
GRCh38:
Chr15:72709703
BBS4P27LBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:73016981
GRCh38:
Chr15:72724640
BBS4Y191C, Y19CInborn genetic diseases, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:73007700-73007702
GRCh38:
Chr15:72715359-72715361
BBS4S97fsBardet-Biedl syndrome 4Likely pathogenic
(Oct 2, 2019)		criteria provided, single submitter
63.
GRCh37:
Chr15:73030450
GRCh38:
Chr15:72738109
BBS4Bardet-Biedl syndrome 4Likely benign
(Jan 12, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr15:73030426
GRCh38:
Chr15:72738085
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr15:73030128
GRCh38:
Chr15:72737787
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr15:73030087
GRCh38:
Chr15:72737746
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr15:73029993
GRCh38:
Chr15:72737652
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr15:73004651
GRCh38:
Chr15:72712310
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:73029924
GRCh38:
Chr15:72737583
BBS4K347R, K496R, K519Rnot provided, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
Uncertain significance
(Nov 27, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr15:73029880
GRCh38:
Chr15:72737539
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr15:72978569
GRCh38:
Chr15:72686228
BBS4M1VBardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Feb 15, 2023)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr15:73027500
GRCh38:
Chr15:72735159
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Conflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr15:73030711
GRCh38:
Chr15:72738370
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr15:73030698
GRCh38:
Chr15:72738357
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr15:73030665
GRCh38:
Chr15:72738324
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr15:73030619
GRCh38:
Chr15:72738278
BBS4Bardet-Biedl syndrome 4Likely benign
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr15:73030509
GRCh38:
Chr15:72738168
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr15:73024060
GRCh38:
Chr15:72731719
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Sep 8, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr15:73021998
GRCh38:
Chr15:72729657
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Conflicting interpretations of pathogenicity
(Jun 27, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr15:73007740
GRCh38:
Chr15:72715399
BBS4S110CInborn genetic diseases, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr15:73029179
GRCh38:
Chr15:72736838
BBS4D419G, D442G, D270GBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr15:73009197
GRCh38:
Chr15:72716856
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr15:73028308
GRCh38:
Chr15:72735967
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr15:73029879
GRCh38:
Chr15:72737538
BBS4A481V, A332V, A504VBardet-Biedl syndrome, Bardet-Biedl syndrome 4Uncertain significance
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:73023725
GRCh38:
Chr15:72731384
BBS4C241F, C264F, C92FBardet-Biedl syndrome 4Likely pathogenic
(Sep 26, 2019)		no assertion criteria provided
86.
GRCh37:
Chr15:73023974
GRCh38:
Chr15:72731633
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Likely benign
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr15:73009198
GRCh38:
Chr15:72716857
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Mar 3, 2021)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr15:73028280-73028281
GRCh38:
Chr15:72735939-72735940
BBS4Bardet-Biedl syndrome 4, Bardet-Biedl syndromeBenign/Likely benign
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr15:73004634-73004637
GRCh38:
Chr15:72712293-72712296
BBS4I70fsBardet-Biedl syndrome 4Likely pathogeniccriteria provided, single submitter
90.
GRCh37:
Chr15:73029202
GRCh38:
Chr15:72736861
BBS4T450P, T278P, T427PBardet-Biedl syndrome 4, Bardet-Biedl syndromeUncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr15:72987562-72987563
GRCh38:
Chr15:72695221-72695222
BBS4A26fsBardet-Biedl syndrome 4Uncertain significance
(Jan 1, 2019)		criteria provided, single submitter
92.
GRCh37:
Chr15:73027520
GRCh38:
Chr15:72735179
BBS4D368G, D345G, D196GBardet-Biedl syndrome 4Uncertain significance
(Nov 15, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr15:72978566
GRCh38:
Chr15:72686225
BBS4not provided, Bardet-Biedl syndrome 4Uncertain significance
(Jan 6, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr15:73023798
GRCh38:
Chr15:72731457
BBS4not provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr15:73028231
GRCh38:
Chr15:72735890
BBS4A391V, A368V, A219VBardet-Biedl syndrome, Bardet-Biedl syndrome 4, not specified
Uncertain significance
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr15:73004608
GRCh38:
Chr15:72712267
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, not specified
Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr15:73028238
GRCh38:
Chr15:72735897
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr15:73023914
GRCh38:
Chr15:72731573
BBS4R295*, R272*, R123*not provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
Pathogenic/Likely pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr15:73030813
GRCh38:
Chr15:72738472
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr15:73030811
GRCh38:
Chr15:72738470
BBS4Bardet-Biedl syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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