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Links from MedGen

Items: 1 to 100 of 110

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr20:10394149
GRCh38:
Chr20:10413501
MKKSE5ABardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 5, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr20:10394054
GRCh38:
Chr20:10413406
MKKSY37HBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Nov 10, 2020)		criteria provided, single submitter
3.
GRCh37:
Chr20:10393203-10393213
GRCh38:
Chr20:10412555-10412565
MKKSG317fsBardet-Biedl syndrome 6Likely pathogenic
(Jul 27, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr20:10386118
GRCh38:
Chr20:10405470
MKKSC497YBardet-Biedl syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
Uncertain significance
(Jun 2, 2023)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr20:10393729-10393734
GRCh38:
Chr20:10413081-10413086
MKKSF144fsMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Pathogenic/Likely pathogenic
(Apr 11, 2023)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr20:10388386
GRCh38:
Chr20:10407738
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr20:10386252
GRCh38:
Chr20:10405604
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome		Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr20:10393953
GRCh38:
Chr20:10413305
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Likely benign
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr20:10386248
GRCh38:
Chr20:10405600
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Likely benign
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr20:10393800
GRCh38:
Chr20:10413152
MKKSK121NMcKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr20:10389409
GRCh38:
Chr20:10408761
MKKSS343NMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome		Uncertain significance
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr20:10393882
GRCh38:
Chr20:10413234
MKKSF94CBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Uncertain significance
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr20:10389352
GRCh38:
Chr20:10408704
MKKSH362RInborn genetic diseases, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
Bardet-Biedl syndrome, McKusick-Kaufman syndrome		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr20:10393861
GRCh38:
Chr20:10413213
MKKSN101IMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Uncertain significance
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr20:10389362
GRCh38:
Chr20:10408714
MKKSH359YMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr20:10389452
GRCh38:
Chr20:10408804
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Pathogenic
(Jun 30, 2021)		criteria provided, single submitter
17.
GRCh37:
Chr20:10393446
GRCh38:
Chr20:10412798
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Likely benign
(Feb 16, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr20:10385913
GRCh38:
Chr20:10405265
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome		Likely benign
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr20:10393956
GRCh38:
Chr20:10413308
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Likely benign
(Nov 23, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr20:10394099-10394100
GRCh38:
Chr20:10413451-10413452
MKKSR21fsBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Pathogenic/Likely pathogenic
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr20:10394017
GRCh38:
Chr20:10413369
MKKSG49VBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr20:10388290
GRCh38:
Chr20:10407642
MKKSH416NMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr20:10393699
GRCh38:
Chr20:10413051
MKKSR155HMcKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Uncertain significance
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr20:10389370
GRCh38:
Chr20:10408722
MKKSG356VMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome		Uncertain significance
(Dec 17, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr20:10385983
GRCh38:
Chr20:10405335
MKKSL542WBardet-Biedl syndrome, McKusick-Kaufman syndrome, not provided,
Bardet-Biedl syndrome 6		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr20:10393118-10394203
GRCh38:
Chr20:10412470-10413555
MKKSBardet-Biedl syndrome 6Pathogenic
(Apr 20, 2020)		no assertion criteria provided
27.
GRCh37:
Chr20:10393911-10393912
GRCh38:
Chr20:10413263-10413264
MKKSH84fsInborn genetic diseases, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
Pathogenic/Likely pathogenic
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr20:10393748
GRCh38:
Chr20:10413100
MKKSR139*Inborn genetic diseases, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
Pathogenic
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr20:10393534
GRCh38:
Chr20:10412886
MKKSI210TMcKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Uncertain significance
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr20:10386314
GRCh38:
Chr20:10405666
MKKSI432FMcKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Uncertain significance
(Feb 10, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr20:10393415
GRCh38:
Chr20:10412767
MKKSG250Rnot provided, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome
Conflicting interpretations of pathogenicity
(Jun 2, 2023)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr20:10386290
GRCh38:
Chr20:10405642
MKKSQ440EBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome, not provided		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr20:10389339
GRCh38:
Chr20:10408691
MKKSN366KBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr20:10393783
GRCh38:
Chr20:10413135
MKKSC127fsMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome		Pathogenic/Likely pathogenic
(Sep 12, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr20:10394321
GRCh38:
Chr20:10413673
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr20:10385963
GRCh38:
Chr20:10405315
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Conflicting interpretations of pathogenicity
(Jun 20, 2022)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr20:10385938
GRCh38:
Chr20:10405290
MKKSN557SBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr20:10401376
GRCh38:
Chr20:10420728
LOC128706665, LOC128706666, MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeBenign
(Apr 27, 2017)		criteria provided, single submitter
39.
GRCh37:
Chr20:10389380
GRCh38:
Chr20:10408732
MKKSA353TBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome		Uncertain significance
(Dec 29, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr20:10386301
GRCh38:
Chr20:10405653
MKKSD436GInborn genetic diseases, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome		Uncertain significance
(Jun 18, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr20:10385792
GRCh38:
Chr20:10405144
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr20:10385783
GRCh38:
Chr20:10405135
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr20:10386301
GRCh38:
Chr20:10405653
MKKSD436VBardet-Biedl syndrome, McKusick-Kaufman syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr20:10394550
GRCh38:
Chr20:10413902
LOC128706665, LOC128706666, MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr20:10394546
GRCh38:
Chr20:10413898
LOC128706665, LOC128706666, MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr20:10393983
GRCh38:
Chr20:10413335
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Apr 27, 2017)		criteria provided, single submitter
47.
GRCh37:
Chr20:10393834
GRCh38:
Chr20:10413186
MKKSG110VBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr20:10386010
GRCh38:
Chr20:10405362
MKKSS533LBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr20:10393237
GRCh38:
Chr20:10412589
MKKSR309HInborn genetic diseases, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
Bardet-Biedl syndrome, McKusick-Kaufman syndrome		Conflicting interpretations of pathogenicity
(May 20, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr20:10389273
GRCh38:
Chr20:10408625
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr20:10393625
GRCh38:
Chr20:10412977
MKKSR180GMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Uncertain significance
(May 7, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr20:10386245
GRCh38:
Chr20:10405597
MKKSE455KBardet-Biedl syndrome, McKusick-Kaufman syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr20:10394042
GRCh38:
Chr20:10413394
MKKSG41RBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Conflicting interpretations of pathogenicity
(Mar 2, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr20:10394047
GRCh38:
Chr20:10413399
MKKSP39LBardet-Biedl syndrome 6Pathogenic
(Aug 25, 2019)		no assertion criteria provided
55.
GRCh37:
Chr20:10393341
GRCh38:
Chr20:10412693
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Likely benign
(Jun 29, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr20:10393932
GRCh38:
Chr20:10413284
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome		Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr20:10394148
GRCh38:
Chr20:10413500
MKKSnot provided, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6		Conflicting interpretations of pathogenicity
(May 4, 2023)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr20:10389310
GRCh38:
Chr20:10408662
MKKSC376FMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr20:10394044
GRCh38:
Chr20:10413396
MKKSS40*Bardet-Biedl syndrome 6, Bardet-Biedl syndromePathogenic/Likely pathogenic
(Apr 16, 2018)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr20:10393550
GRCh38:
Chr20:10412902
MKKSK205*Bardet-Biedl syndrome 6Pathogenic
(Sep 18, 2017)		no assertion criteria provided
61.
GRCh37:
Chr20:10394104
GRCh38:
Chr20:10413456
MKKSE20GMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome, not provided		Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr20:10394096
GRCh38:
Chr20:10413448
MKKSR23Gnot specified, Inborn genetic diseases, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome
Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr20:10393406
GRCh38:
Chr20:10412758
MKKSS253PMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, not provided,
Bardet-Biedl syndrome, McKusick-Kaufman syndrome		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr20:10393747
GRCh38:
Chr20:10413099
MKKSR139QMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
Benign/Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr20:10394147
GRCh38:
Chr20:10413499
MKKSA6TBardet-Biedl syndrome, McKusick-Kaufman syndrome, not provided,
McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr20:10412518
GRCh38:
Chr20:10431870
LOC128706665, LOC128706666, MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr20:10412390
GRCh38:
Chr20:10431742
LOC128706665, LOC128706666, MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr20:10412326
GRCh38:
Chr20:10431678
LOC128706665, LOC128706666, MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeLikely benign
(Jan 13, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr20:10401320
GRCh38:
Chr20:10420672
LOC128706665, LOC128706666, MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr20:10401315
GRCh38:
Chr20:10420667
LOC128706665, LOC128706666, MKKSH24RBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr20:10401254
GRCh38:
Chr20:10420606
LOC128706665, LOC128706666, MKKSI44MBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr20:10401253
GRCh38:
Chr20:10420605
LOC128706665, LOC128706666, MKKSP45TBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr20:10401239
GRCh38:
Chr20:10420591
LOC128706665, LOC128706666, MKKSS49RBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr20:10401235
GRCh38:
Chr20:10420587
LOC128706665, LOC128706666, MKKSG51*Bardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr20:10394568
GRCh38:
Chr20:10413920
LOC128706666, MKKS, LOC128706665Bardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr20:10394511
GRCh38:
Chr20:10413863
LOC128706665, LOC128706666, MKKSK9EBardet-Biedl syndrome 6, McKusick-Kaufman syndromeLikely benign
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr20:10394468
GRCh38:
Chr20:10413820
MKKS, LOC128706665, LOC128706666H23RBardet-Biedl syndrome 6, McKusick-Kaufman syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr20:10394321
GRCh38:
Chr20:10413673
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr20:10394220
GRCh38:
Chr20:10413572
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, not provided
Benign/Likely benign
(Mar 5, 2021)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr20:10394201
GRCh38:
Chr20:10413553
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr20:10394184
GRCh38:
Chr20:10413536
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr20:10394183
GRCh38:
Chr20:10413535
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr20:10394081
GRCh38:
Chr20:10413433
MKKSV28LBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr20:10393700
GRCh38:
Chr20:10413052
MKKSR155CInborn genetic diseases, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome,
McKusick-Kaufman syndrome, not provided, McKusick-Kaufman syndrome
Uncertain significance
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr20:10393289
GRCh38:
Chr20:10412641
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome 6		Conflicting interpretations of pathogenicity
(Jul 28, 2021)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr20:10388267
GRCh38:
Chr20:10407619
MKKSBardet-Biedl syndrome 6, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
McKusick-Kaufman syndrome		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr20:10386326
GRCh38:
Chr20:10405678
MKKSD428NBardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome
Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr20:10385906
GRCh38:
Chr20:10405258
MKKSD568HBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr20:10385874
GRCh38:
Chr20:10405226
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr20:10385503
GRCh38:
Chr20:10404855
MKKSBardet-Biedl syndrome 6, McKusick-Kaufman syndromeBenign
(Jan 13, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr20:10385460
GRCh38:
Chr20:10404812
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Benign
(Jan 12, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr20:10385435
GRCh38:
Chr20:10404787
MKKSMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr20:10394128
GRCh38:
Chr20:10413480
MKKSC12YMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
Bardet-Biedl syndrome, not provided		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr20:10386146
GRCh38:
Chr20:10405498
MKKSA488Tnot provided, Bardet-Biedl syndrome, McKusick-Kaufman syndrome,
not specified, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr20:10385849
GRCh38:
Chr20:10405201
MKKSnot provided, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome,
not specified		Benign/Likely benign
(Jan 20, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr20:10385857
GRCh38:
Chr20:10405209
MKKSnot provided, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
not specified		Benign/Likely benign
(Jan 20, 2021)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr20:10386055
GRCh38:
Chr20:10405407
MKKSR518HBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr20:10393351
GRCh38:
Chr20:10412703
MKKSA271VMcKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, not provided
Uncertain significance
(Mar 4, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr20:10389422
GRCh38:
Chr20:10408774
MKKSI339VBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
McKusick-Kaufman syndrome, not specified, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr20:10386013
GRCh38:
Chr20:10405365
MKKSG532VBardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6,
not specified, McKusick-Kaufman syndrome, not provided
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
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