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Items: 1 to 100 of 154

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:119461315
GRCh38:
Chr9:116699036
ASTN2, TRIM32L432FSarcotubular myopathyUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr9:119460598
GRCh38:
Chr9:116698319
ASTN2, TRIM32R193CBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Uncertain significance
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:119460760
GRCh38:
Chr9:116698481
ASTN2, TRIM32K247ESarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:119461136
GRCh38:
Chr9:116698857
ASTN2, TRIM32N372SSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:119461007
GRCh38:
Chr9:116698728
ASTN2, TRIM32P329RBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr9:119461156
GRCh38:
Chr9:116698877
ASTN2, TRIM32V379MBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr9:119460515
GRCh38:
Chr9:116698236
ASTN2, TRIM32R165QBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(Apr 10, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr9:119460863
GRCh38:
Chr9:116698584
ASTN2, TRIM32L281PBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr9:119461972
GRCh38:
Chr9:116699693
ASTN2, TRIM32S651PBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr9:119460155
GRCh38:
Chr9:116697876
ASTN2, TRIM32R45HBardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Uncertain significance
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:119461342
GRCh38:
Chr9:116699063
ASTN2, TRIM32L441VBardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Uncertain significance
(Jan 13, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:119461623
GRCh38:
Chr9:116699344
ASTN2, TRIM32L535fsSarcotubular myopathyPathogenic
(Mar 10, 2022)
no assertion criteria provided
13.
GRCh37:
Chr9:119460622
GRCh38:
Chr9:116698343
ASTN2, TRIM32R201CBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy,
Bardet-Biedl syndrome 11
Uncertain significance
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr9:119460495
GRCh38:
Chr9:116698216
ASTN2, TRIM32Bardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr9:119460237
GRCh38:
Chr9:116697958
TRIM32, ASTN2Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Likely benign
(Aug 16, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr9:119460960
GRCh38:
Chr9:116698681
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Likely benign
(Aug 8, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr9:119461749
GRCh38:
Chr9:116699470
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Likely benign
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr9:119460399
GRCh38:
Chr9:116698120
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Likely benign
(Feb 3, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr9:119461792
GRCh38:
Chr9:116699513
ASTN2, TRIM32V591MBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy,
not provided
Conflicting interpretations of pathogenicity
(Feb 9, 2022)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr9:119460154
GRCh38:
Chr9:116697875
TRIM32, ASTN2R45CBardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr9:119460514
GRCh38:
Chr9:116698235
ASTN2, TRIM32R165WSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr9:119460485
GRCh38:
Chr9:116698206
ASTN2, TRIM32R155PSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr9:119460917
GRCh38:
Chr9:116698638
ASTN2, TRIM32R299QSarcotubular myopathy, Bardet-Biedl syndrome 11, Sarcotubular myopathy,
Bardet-Biedl syndrome
Uncertain significance
(Mar 6, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr9:119460842
GRCh38:
Chr9:116698563
ASTN2, TRIM32T274SSarcotubular myopathyUncertain significance
(Jan 25, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr9:119461858
GRCh38:
Chr9:116699579
ASTN2, TRIM32R613*Bardet-Biedl syndrome, not providedUncertain significance
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr9:119461639
GRCh38:
Chr9:116699360
ASTN2, TRIM32R540WSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr9:119461808
GRCh38:
Chr9:116699529
ASTN2, TRIM32R596HSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Jul 3, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr9:119460443
GRCh38:
Chr9:116698164
ASTN2, TRIM32A141ESarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr9:119461082
GRCh38:
Chr9:116698803
ASTN2, TRIM32Q354RSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr9:119461220
GRCh38:
Chr9:116698941
ASTN2, TRIM32R400LSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Jan 13, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr9:119460335
GRCh38:
Chr9:116698056
ASTN2, TRIM32R105QSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr9:119461219
GRCh38:
Chr9:116698940
ASTN2, TRIM32R400CBardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Uncertain significance
(May 26, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr9:119460832
GRCh38:
Chr9:116698553
ASTN2, TRIM32R271GBardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Uncertain significance
(Jun 9, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr9:119460994
GRCh38:
Chr9:116698715
ASTN2, TRIM32M325VBardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11,
not provided
Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr9:119460999
GRCh38:
Chr9:116698720
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Conflicting interpretations of pathogenicity
(Sep 6, 2022)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr9:119463407
GRCh38:
Chr9:116701128
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr9:119460477-119460484
GRCh38:
Chr9:116698198-116698205
ASTN2, TRIM32L153fsSarcotubular myopathy, Bardet-Biedl syndrome 11, Autosomal recessive limb-girdle muscular dystrophy,
Bardet-Biedl syndrome
Pathogenic/Likely pathogenic
(Feb 4, 2023)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr9:119460515
GRCh38:
Chr9:116698236
ASTN2, TRIM32R165LSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr9:119460227
GRCh38:
Chr9:116697948
TRIM32, ASTN2R69HSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr9:119461565
GRCh38:
Chr9:116699286
ASTN2, TRIM32R515Qnot provided, Bardet-Biedl syndrome 11, Sarcotubular myopathy,
Bardet-Biedl syndrome
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr9:119463399
GRCh38:
Chr9:116701120
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr9:119463337
GRCh38:
Chr9:116701058
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr9:119463333
GRCh38:
Chr9:116701054
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr9:119463237
GRCh38:
Chr9:116700958
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr9:119462513
GRCh38:
Chr9:116700234
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr9:119461861
GRCh38:
Chr9:116699582
ASTN2, TRIM32E614KBardet-Biedl syndrome 11, Sarcotubular myopathy, not provided
Uncertain significance
(Mar 25, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr9:119460642
GRCh38:
Chr9:116698363
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr9:119463229
GRCh38:
Chr9:116700950
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr9:119463135
GRCh38:
Chr9:116700856
ASTN2, TRIM32not provided, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Conflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr9:119462447
GRCh38:
Chr9:116700168
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr9:119462354
GRCh38:
Chr9:116700075
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr9:119462295
GRCh38:
Chr9:116700016
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr9:119461594
GRCh38:
Chr9:116699315
ASTN2, TRIM32G525CBardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr9:119460338
GRCh38:
Chr9:116698059
ASTN2, TRIM32R106HBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(Jan 13, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr9:119463057
GRCh38:
Chr9:116700778
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr9:119462233
GRCh38:
Chr9:116699954
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr9:119462212
GRCh38:
Chr9:116699933
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr9:119462189
GRCh38:
Chr9:116699910
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 22, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr9:119461404
GRCh38:
Chr9:116699125
ASTN2, TRIM32Bardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Conflicting interpretations of pathogenicity
(Jun 11, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr9:119461327
GRCh38:
Chr9:116699048
ASTN2, TRIM32M436Vnot provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 11,
Sarcotubular myopathy
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr9:119462828
GRCh38:
Chr9:116700549
ASTN2, TRIM32not provided, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Benign
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr9:119462659
GRCh38:
Chr9:116700380
ASTN2, TRIM32Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr9:119449599
GRCh38:
Chr9:116687320
TRIM32, ASTN2Bardet-Biedl syndrome 11, Sarcotubular myopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr9:119460053
GRCh38:
Chr9:116697774
ASTN2, TRIM32L11PBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(May 22, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr9:119460298
GRCh38:
Chr9:116698019
ASTN2, TRIM32E93KBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(Apr 23, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr9:119460599
GRCh38:
Chr9:116698320
ASTN2, TRIM32R193HSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome,
not provided
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr9:119460286
GRCh38:
Chr9:116698007
ASTN2, TRIM32A89TBardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy,
not provided
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr9:119460323
GRCh38:
Chr9:116698044
ASTN2, TRIM32R101QBardet-Biedl syndrome 11, Sarcotubular myopathy, not provided,
Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Mar 21, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr9:119460346
GRCh38:
Chr9:116698067
ASTN2, TRIM32R109Wnot provided, Bardet-Biedl syndrome 11, Sarcotubular myopathy,
Bardet-Biedl syndrome
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr9:119460455
GRCh38:
Chr9:116698176
ASTN2, TRIM32R145QBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Uncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr9:119461443-119461444
GRCh38:
Chr9:116699164-116699165
ASTN2, TRIM32Sarcotubular myopathyUncertain significance
(Dec 3, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr9:119461222
GRCh38:
Chr9:116698943
TRIM32, ASTN2K401*Sarcotubular myopathyPathogenic
(May 28, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr9:119461630
GRCh38:
Chr9:116699351
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Benign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr9:119461296
GRCh38:
Chr9:116699017
ASTN2, TRIM32Bardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Benign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr9:119460398
GRCh38:
Chr9:116698119
ASTN2, TRIM32A126VBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr9:119460500
GRCh38:
Chr9:116698221
ASTN2, TRIM32M160TBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome,
Inborn genetic diseases, not provided
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr9:119460893
GRCh38:
Chr9:116698614
ASTN2, TRIM32I291SSarcotubular myopathyUncertain significance
(Jun 15, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr9:119461149-119461150
GRCh38:
Chr9:116698870-116698871
ASTN2, TRIM32Y378fsBardet-Biedl syndrome 11, Sarcotubular myopathy, not provided
Pathogenic/Likely pathogenic
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr9:119460484
GRCh38:
Chr9:116698205
ASTN2, TRIM32R155SBardet-Biedl syndrome 11, Sarcotubular myopathy, not provided
Uncertain significance
(May 24, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr9:119460509
GRCh38:
Chr9:116698230
ASTN2, TRIM32L163PBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Uncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr9:119461509
GRCh38:
Chr9:116699230
TRIM32, ASTN2F496LBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome,
not provided
Uncertain significance
(Jul 9, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr9:119461640
GRCh38:
Chr9:116699361
ASTN2, TRIM32R540QSarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Uncertain significance
(Feb 4, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr9:119460884
GRCh38:
Chr9:116698605
TRIM32, ASTN2P288HSarcotubular myopathy, Bardet-Biedl syndrome 11, not provided,
Bardet-Biedl syndrome
Uncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr9:119460709
GRCh38:
Chr9:116698430
TRIM32, ASTN2I230VSarcotubular myopathy, Bardet-Biedl syndrome 11, not provided,
Bardet-Biedl syndrome
Uncertain significance
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr9:119460910
GRCh38:
Chr9:116698631
ASTN2, TRIM32K297ESarcotubular myopathy, Bardet-Biedl syndrome 11, not provided,
Bardet-Biedl syndrome
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr9:119460681
GRCh38:
Chr9:116698402
ASTN2, TRIM32Bardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11
Conflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr9:119461644
GRCh38:
Chr9:116699365
ASTN2, TRIM32Bardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11,
not specified
Likely benign
(Sep 9, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr9:119460517
GRCh38:
Chr9:116698238
ASTN2, TRIM32R166Wnot provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 11,
Sarcotubular myopathy
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr9:119460671
GRCh38:
Chr9:116698392
ASTN2, TRIM32N217Snot provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 11,
Sarcotubular myopathy
Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr9:119460461
GRCh38:
Chr9:116698182
ASTN2, TRIM32R147QBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr9:119461067
GRCh38:
Chr9:116698788
ASTN2, TRIM32A349GBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome,
not provided
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr9:119461033
GRCh38:
Chr9:116698754
ASTN2, TRIM32A338TInborn genetic diseases, not provided, Bardet-Biedl syndrome,
Bardet-Biedl syndrome 11, Sarcotubular myopathy
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr9:119461189
GRCh38:
Chr9:116698910
ASTN2, TRIM32R390CBardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome,
Sarcotubular myopathy, Bardet-Biedl syndrome 11, not provided
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr9:119461000
GRCh38:
Chr9:116698721
ASTN2, TRIM32M327Vnot provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 11,
Sarcotubular myopathy
Uncertain significance
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr9:119460148
GRCh38:
Chr9:116697869
ASTN2, TRIM32I43Vnot provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 11,
Sarcotubular myopathy, not specified
Uncertain significance
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr9:119460832
GRCh38:
Chr9:116698553
ASTN2, TRIM32R271WInborn genetic diseases, Bardet-Biedl syndrome, not provided,
Sarcotubular myopathy, Bardet-Biedl syndrome 11
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr9:119463473
GRCh38:
Chr9:116701194
TRIM32, ASTN2Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr9:119463190
GRCh38:
Chr9:116700911
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr9:119463189
GRCh38:
Chr9:116700910
TRIM32, ASTN2Sarcotubular myopathy, Bardet-Biedl syndrome 11Benign
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr9:119463060
GRCh38:
Chr9:116700781
ASTN2, TRIM32Sarcotubular myopathy, Bardet-Biedl syndrome 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
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