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Items: 1 to 100 of 269

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:137222901
GRCh38:
Chr5:137887212
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Jan 26, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr5:137222955
GRCh38:
Chr5:137887266
MYOT, PKD2L2-DTF276L, F345L, F460LMyofibrillar myopathy 3, Inborn genetic diseases, not provided
Uncertain significance
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr5:137223031
GRCh38:
Chr5:137887342
MYOT, PKD2L2-DTR301H, R370H, R485HMyofibrillar myopathy 3Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr5:137222943
GRCh38:
Chr5:137887254
MYOT, PKD2L2-DTV341I, V272I, V456IMyofibrillar myopathy 3Uncertain significance
(Jul 2, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr5:137219239
GRCh38:
Chr5:137883550
MYOT, PKD2L2-DTR328K, R144K, R213KMyofibrillar myopathy 3Uncertain significance
(Jun 25, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr5:137221753
GRCh38:
Chr5:137886064
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jan 2, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr5:137221830
GRCh38:
Chr5:137886141
MYOT, PKD2L2-DTS189L, S258L, S373LMyofibrillar myopathy 3Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr5:137219122
GRCh38:
Chr5:137883433
MYOT, PKD2L2-DTT105R, T174R, T289Rnot provided, Myofibrillar myopathy 3Uncertain significance
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr5:137206458
GRCh38:
Chr5:137870769
MYOT, PKD2L2-DTI40VMyofibrillar myopathy 3Uncertain significance
(Dec 20, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr5:137222656
GRCh38:
Chr5:137886967
MYOT, PKD2L2-DTT317S, T248S, T432Snot provided, not specified, Myofibrillar myopathy 3
Uncertain significance
(Jun 26, 2023)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:137211525
GRCh38:
Chr5:137875836
MYOT, PKD2L2-DTQ7*, Q122*Myofibrillar myopathy 3Uncertain significance
(Apr 8, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr5:137221825
GRCh38:
Chr5:137886136
MYOT, PKD2L2-DTQ187H, Q256H, Q371HMyofibrillar myopathy 3Uncertain significance
(May 20, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr5:137216562
GRCh38:
Chr5:137880873
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jun 30, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr5:137216538
GRCh38:
Chr5:137880849
MYOT, PKD2L2-DTP108S, P223S, P39SMyofibrillar myopathy 3Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:137217687
GRCh38:
Chr5:137881998
MYOT, PKD2L2-DTV237M, V122M, V53MMyofibrillar myopathy 3Uncertain significance
(Apr 17, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:137223014-137223016
GRCh38:
Chr5:137887325-137887327
MYOT, PKD2L2-DTE480del, E365del, E296delMyofibrillar myopathy 3Uncertain significance
(Apr 16, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:137222993-137222994
GRCh38:
Chr5:137887304-137887305
MYOT, PKD2L2-DTV289fs, V473fs, V358fsMyofibrillar myopathy 3Uncertain significance
(Jun 30, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr5:137219140
GRCh38:
Chr5:137883451
MYOT, PKD2L2-DTL180W, L295W, L111WMyofibrillar myopathy 3Uncertain significance
(Mar 26, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:137221887
GRCh38:
Chr5:137886198
PKD2L2-DT, MYOTN208S, N277S, N392SMyofibrillar myopathy 3Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr5:137206393
GRCh38:
Chr5:137870704
MYOT, PKD2L2-DTG18VMyofibrillar myopathy 3Uncertain significance
(Feb 25, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr5:137206658
GRCh38:
Chr5:137870969
MYOT, PKD2L2-DTD106EMyofibrillar myopathy 3Uncertain significance
(Jun 17, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr5:137219262
GRCh38:
Chr5:137883573
MYOT, PKD2L2-DTV152L, V221L, V336LMyofibrillar myopathy 3Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr5:137219228
GRCh38:
Chr5:137883539
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 22, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr5:137206389
GRCh38:
Chr5:137870700
MYOT, PKD2L2-DTC17SMyofibrillar myopathy 3Uncertain significance
(Feb 18, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr5:137206496
GRCh38:
Chr5:137870807
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Mar 4, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:137221920
GRCh38:
Chr5:137886231
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Apr 25, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr5:137211630
GRCh38:
Chr5:137875941
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Feb 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:137221879
GRCh38:
Chr5:137886190
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Feb 10, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr5:137217668
GRCh38:
Chr5:137881979
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 5, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr5:137217658-137217663
GRCh38:
Chr5:137881969-137881974
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:137219191
GRCh38:
Chr5:137883502
MYOT, PKD2L2-DTV197A, V312A, V128AMyofibrillar myopathy 3Uncertain significance
(Jun 17, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:137206356
GRCh38:
Chr5:137870667
MYOT, PKD2L2-DTR6CMyofibrillar myopathy 3Uncertain significance
(May 15, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr5:137217651
GRCh38:
Chr5:137881962
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Aug 21, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr5:137211685
GRCh38:
Chr5:137875996
MYOT, PKD2L2-DTG60V, G175VMyofibrillar myopathy 3Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:137222685
GRCh38:
Chr5:137886996
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:137213209
GRCh38:
Chr5:137877520
MYOT, PKD2L2-DTR178C, R63CInborn genetic diseases, Myofibrillar myopathy 3Uncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr5:137217810
GRCh38:
Chr5:137882121
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Aug 31, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:137213291
GRCh38:
Chr5:137877602
MYOT, PKD2L2-DTS205T, S21T, S90TMyofibrillar myopathy 3Uncertain significance
(Jul 1, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:137222593
GRCh38:
Chr5:137886904
MYOT, PKD2L2-DTK296Q, K411Q, K227QMyofibrillar myopathy 3Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr5:137217659
GRCh38:
Chr5:137881970
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr5:137206474
GRCh38:
Chr5:137870785
MYOT, PKD2L2-DTR45HMyofibrillar myopathy 3Uncertain significance
(May 9, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr5:137217692
GRCh38:
Chr5:137882003
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 18, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr5:137222684
GRCh38:
Chr5:137886995
PKD2L2-DT, MYOTT441M, T257M, T326MMyofibrillar myopathy 3Uncertain significance
(Feb 25, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:137222680
GRCh38:
Chr5:137886991
MYOT, PKD2L2-DTV256I, V325I, V440IMyofibrillar myopathy 3Uncertain significance
(Jun 4, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:137206579
GRCh38:
Chr5:137870890
MYOT, PKD2L2-DTN80SMyofibrillar myopathy 3Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr5:137219285
GRCh38:
Chr5:137883596
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:137217669
GRCh38:
Chr5:137881980
MYOT, PKD2L2-DTS116P, S231P, S47PMyofibrillar myopathy 3Uncertain significance
(Jun 14, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:137222904
GRCh38:
Chr5:137887215
MYOT, PKD2L2-DTR328G, R443G, R259GMyofibrillar myopathy 3Uncertain significance
(Apr 12, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:137206477
GRCh38:
Chr5:137870788
MYOT, PKD2L2-DTQ46RMyofibrillar myopathy 3Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:137211499
GRCh38:
Chr5:137875810
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Oct 5, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr5:137222905
GRCh38:
Chr5:137887216
MYOT, PKD2L2-DTR443H, R259H, R328HMyofibrillar myopathy 3Uncertain significance
(Aug 21, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:137221880
GRCh38:
Chr5:137886191
MYOT, PKD2L2-DTQ275*, Q390*, Q206*Myofibrillar myopathy 3Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr5:137213210
GRCh38:
Chr5:137877521
MYOT, PKD2L2-DTR63L, R178LMyofibrillar myopathy 3Uncertain significance
(Aug 6, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:137217793
GRCh38:
Chr5:137882104
MYOT, PKD2L2-DTK157T, K272T, K88TMyofibrillar myopathy 3Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:137217703
GRCh38:
Chr5:137882014
PKD2L2-DT, MYOTA127V, A242V, A58VMyofibrillar myopathy 3Uncertain significance
(Sep 18, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr5:137223031
GRCh38:
Chr5:137887342
MYOT, PKD2L2-DTR301L, R370L, R485LMyofibrillar myopathy 3Uncertain significance
(Sep 7, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr5:137213295
GRCh38:
Chr5:137877606
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Aug 16, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:137222546
GRCh38:
Chr5:137886857
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Aug 23, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr5:137211683
GRCh38:
Chr5:137875994
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jan 11, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr5:137206388
GRCh38:
Chr5:137870699
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 6, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:137217811
GRCh38:
Chr5:137882122
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Nov 1, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr5:137211680
GRCh38:
Chr5:137875991
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Aug 9, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr5:137206658
GRCh38:
Chr5:137870969
PKD2L2-DT, MYOTMyofibrillar myopathy 3Likely benign
(Mar 14, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr5:137221718
GRCh38:
Chr5:137886029
MYOT, PKD2L2-DTMyofibrillar myopathy 3Benign
(Oct 18, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:137222698
GRCh38:
Chr5:137887009
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Mar 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:137211620
GRCh38:
Chr5:137875931
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Apr 28, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:137217771
GRCh38:
Chr5:137882082
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Oct 7, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr5:137217646
GRCh38:
Chr5:137881957
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Aug 16, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:137211503
GRCh38:
Chr5:137875814
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jun 17, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr5:137206589
GRCh38:
Chr5:137870900
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jun 2, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr5:137222704
GRCh38:
Chr5:137887015
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Feb 21, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr5:137217722
GRCh38:
Chr5:137882033
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 6, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:137221801
GRCh38:
Chr5:137886112
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 11, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:137219159
GRCh38:
Chr5:137883470
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Jul 5, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr5:137213197
GRCh38:
Chr5:137877508
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Sep 23, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:137216563
GRCh38:
Chr5:137880874
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Sep 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:137222697
GRCh38:
Chr5:137887008
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Oct 17, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr5:137216522
GRCh38:
Chr5:137880833
MYOT, PKD2L2-DTMyofibrillar myopathy 3Likely benign
(Nov 25, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr5:137222563
GRCh38:
Chr5:137886874
MYOT, PKD2L2-DTD286Y, D401Y, D217YMyofibrillar myopathy 3Uncertain significance
(Aug 8, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr5:137216555
GRCh38:
Chr5:137880866
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Aug 12, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr5:137222553
GRCh38:
Chr5:137886864
MYOT, PKD2L2-DTMyofibrillar myopathy 3Uncertain significance
(Aug 18, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr5:137222615
GRCh38:
Chr5:137886926
MYOT, PKD2L2-DTA234V, A418V, A303VMyofibrillar myopathy 3Uncertain significance
(Oct 20, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr5:137221844
GRCh38:
Chr5:137886155
MYOT, PKD2L2-DTP263A, P378A, P194AMyofibrillar myopathy 3Uncertain significance
(Nov 18, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr5:137217740
GRCh38:
Chr5:137882051
MYOT, PKD2L2-DTQ139H, Q254H, Q70HMyofibrillar myopathy 3Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:137223058
GRCh38:
Chr5:137887369
MYOT, PKD2L2-DTE379A, E310A, E494AMyofibrillar myopathy 3Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr5:137216485-137221922
MYOTMyofibrillar myopathy 3Uncertain significance
(Sep 22, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr5:137222904
GRCh38:
Chr5:137887215
MYOT, PKD2L2-DTR443C, R259C, R328CMyofibrillar myopathy 3Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr5:137222968
GRCh38:
Chr5:137887279
MYOT, PKD2L2-DTL349S, L280S, L464SMyofibrillar myopathy 3Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr5:137219238
GRCh38:
Chr5:137883549
MYOT, PKD2L2-DTR213G, R144G, R328GMyofibrillar myopathy 3Uncertain significance
(Aug 3, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr5:137211690
GRCh38:
Chr5:137876001
MYOT, PKD2L2-DTQ177E, Q62Enot provided, Myofibrillar myopathy 3Uncertain significance
(Aug 25, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr5:137206474
GRCh38:
Chr5:137870785
MYOT, PKD2L2-DTR45LMyofibrillar myopathy 3Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr5:137206390
GRCh38:
Chr5:137870701
MYOT, PKD2L2-DTC17YMyofibrillar myopathy 3Uncertain significance
(Nov 7, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:137219212
GRCh38:
Chr5:137883523
MYOT, PKD2L2-DTG204A, G319A, G135AMyofibrillar myopathy 3Uncertain significance
(Nov 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:137213229
GRCh38:
Chr5:137877540
MYOT, PKD2L2-DTK69N, K184NMyofibrillar myopathy 3Uncertain significance
(Aug 3, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr5:137222986
GRCh38:
Chr5:137887297
MYOT, PKD2L2-DTG355A, G470A, G286AInborn genetic diseases, Myofibrillar myopathy 3Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr5:137213270
GRCh38:
Chr5:137877581
MYOT, PKD2L2-DTV83A, V14A, V198AMyofibrillar myopathy 3Uncertain significance
(Jul 8, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr5:137211585
GRCh38:
Chr5:137875896
MYOT, PKD2L2-DTI142V, I27Vnot provided, Myofibrillar myopathy 3Uncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr5:137223055
GRCh38:
Chr5:137887366
MYOT, PKD2L2-DTY309C, Y378C, Y493CMyofibrillar myopathy 3Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr5:137219215
GRCh38:
Chr5:137883526
MYOT, PKD2L2-DTA136V, A205V, A320VMyofibrillar myopathy 3Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr5:137206638
GRCh38:
Chr5:137870949
MYOT, PKD2L2-DTI100VMyofibrillar myopathy 3, not providedUncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
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