| - GRCh37:
- Chr7:128498448
- GRCh38:
- Chr7:128858394
| FLNC, FLNC-AS1 | Y2650*, Y2683* | Distal myopathy with posterior leg and anterior hand involvement | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:128497391
- GRCh38:
- Chr7:128857337
| FLNC, FLNC-AS1 | | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
| Uncertain significance
(Mar 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482375
- GRCh38:
- Chr7:128842321
| FLNC | H738N | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
| Uncertain significance
(Aug 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128498271
- GRCh38:
- Chr7:128858217
| FLNC-AS1, FLNC | G2631R, G2664R | Distal myopathy with posterior leg and anterior hand involvement | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:128477450
- GRCh38:
- Chr7:128837396
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement | Uncertain significance
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128498203
- GRCh38:
- Chr7:128858149
| FLNC, FLNC-AS1 | G2609fs, G2642fs | Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
| Likely pathogenic
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128470736-128470737
- GRCh38:
- Chr7:128830682-128830683
| FLNC | D16fs | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
| Likely pathogenic
(Jan 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128481342
- GRCh38:
- Chr7:128841288
| FLNC | C644fs | Distal myopathy with posterior leg and anterior hand involvement | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr7:128485148
- GRCh38:
- Chr7:128845094
| FLNC | G1210D | Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5,
Hypertrophic cardiomyopathy 26 | Uncertain significance
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128493013
- GRCh38:
- Chr7:128852959
| FLNC, FLNC-AS1 | V2013I, V2046I | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26,
Dilated Cardiomyopathy, Dominant | Uncertain significance
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128497409
- GRCh38:
- Chr7:128857355
| FLNC, FLNC-AS1 | | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26,
Dilated Cardiomyopathy, Dominant | Likely benign
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128475360-128478877
| FLNC | | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Distal myopathy with posterior leg and anterior hand involvement | Pathogenic
(Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128470692-128498577
| FLNC | | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Distal myopathy with posterior leg and anterior hand involvement | Pathogenic
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128480199-128481774
| FLNC | | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26,
Dilated Cardiomyopathy, Dominant | Likely pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128480619-128486474
| FLNC | | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Distal myopathy with posterior leg and anterior hand involvement | Pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128470692-128482448
| FLNC | | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Distal myopathy with posterior leg and anterior hand involvement | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128478134
- GRCh38:
- Chr7:128838080
| FLNC | | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26,
Dilated Cardiomyopathy, Dominant | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128475507
- GRCh38:
- Chr7:128835453
| FLNC | | Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement,
Hypertrophic cardiomyopathy 26 | Likely benign
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494886
- GRCh38:
- Chr7:128854832
| FLNC, FLNC-AS1 | E2319V, E2352V | Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement,
Hypertrophic cardiomyopathy 26 | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128477448
- GRCh38:
- Chr7:128837394
| FLNC | | Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement,
Hypertrophic cardiomyopathy 26 | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486978
- GRCh38:
- Chr7:128846924
| FLNC | | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5,
Dilated Cardiomyopathy, Dominant | Likely benign
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488900
- GRCh38:
- Chr7:128848846
| FLNC | | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26,
Dilated Cardiomyopathy, Dominant | Likely benign
(Jul 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488849
- GRCh38:
- Chr7:128848795
| FLNC | D1580E | Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement,
Myofibrillar myopathy 5 | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128497299
- GRCh38:
- Chr7:128857245
| FLNC, FLNC-AS1 | | Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement,
Myofibrillar myopathy 5 | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128483464
- GRCh38:
- Chr7:128843410
| FLNC | V882M | Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement,
Myofibrillar myopathy 5 | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128481212
- GRCh38:
- Chr7:128841158
| FLNC | | Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement,
Myofibrillar myopathy 5 | Likely benign
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488609
- GRCh38:
- Chr7:128848555
| FLNC | | Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant, Distal myopathy with posterior leg and anterior hand involvement,
Myofibrillar myopathy 5 | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494567
- GRCh38:
- Chr7:128854513
| FLNC, FLNC-AS1 | | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26,
Dilated Cardiomyopathy, Dominant | Benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128496801
- GRCh38:
- Chr7:128856747
| FLNC, FLNC-AS1 | K2463E, K2430E | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5, Cardiovascular phenotype | Uncertain significance
(Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128498282
- GRCh38:
- Chr7:128858228
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488861
- GRCh38:
- Chr7:128848807
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5, Cardiovascular phenotype | Likely benign
(Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128480636
- GRCh38:
- Chr7:128840582
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482390
- GRCh38:
- Chr7:128842336
| FLNC | S743P | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5, Cardiovascular phenotype | Uncertain significance
(Nov 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128478499
- GRCh38:
- Chr7:128838445
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128495334
- GRCh38:
- Chr7:128855280
| FLNC, FLNC-AS1 | D2406V, D2373V | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128484063
- GRCh38:
- Chr7:128844009
| FLNC | A979T | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128484046-128484047
- GRCh38:
- Chr7:128843992-128843993
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128489241
- GRCh38:
- Chr7:128849187
| FLNC | I1645T | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494702
- GRCh38:
- Chr7:128854648
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128485071
- GRCh38:
- Chr7:128845017
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant,
Hypertrophic cardiomyopathy 26, FLNC-related condition | Conflicting interpretations of pathogenicity
(Jan 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128478701
- GRCh38:
- Chr7:128838647
| FLNC | G419S | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486788
- GRCh38:
- Chr7:128846734
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128490497
- GRCh38:
- Chr7:128850443
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482438
- GRCh38:
- Chr7:128842384
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128489501
- GRCh38:
- Chr7:128849447
| FLNC | L1690V | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128470901
- GRCh38:
- Chr7:128830847
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494032
- GRCh38:
- Chr7:128853978
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128480615
- GRCh38:
- Chr7:128840561
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128491310
- GRCh38:
- Chr7:128851256
| FLNC-AS1, FLNC | D1822V, D1855V | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128491696
- GRCh38:
- Chr7:128851642
| FLNC-AS1, FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128490976
- GRCh38:
- Chr7:128850922
| FLNC, FLNC-AS1 | Y1840N, Y1807N | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128496953
- GRCh38:
- Chr7:128856899
| FLNC-AS1, FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494468
- GRCh38:
- Chr7:128854414
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128498210
- GRCh38:
- Chr7:128858156
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128490910
- GRCh38:
- Chr7:128850856
| FLNC, FLNC-AS1 | K1785Q, K1818Q | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494149
- GRCh38:
- Chr7:128854095
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26,
Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype | Likely benign
(Sep 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128488120
- GRCh38:
- Chr7:128848066
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488067
- GRCh38:
- Chr7:128848013
| FLNC | T1509A | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128484765
- GRCh38:
- Chr7:128844711
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482927
- GRCh38:
- Chr7:128842873
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482830
- GRCh38:
- Chr7:128842776
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488092
- GRCh38:
- Chr7:128848038
| FLNC | V1517A | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128496560
- GRCh38:
- Chr7:128856506
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486357
- GRCh38:
- Chr7:128846303
| FLNC | V1323L | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128477726
- GRCh38:
- Chr7:128837672
| FLNC | A296T | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128489446
- GRCh38:
- Chr7:128849392
| FLNC | K1671N | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128477207
- GRCh38:
- Chr7:128837153
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482266
- GRCh38:
- Chr7:128842212
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128478137
- GRCh38:
- Chr7:128838083
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128485249
- GRCh38:
- Chr7:128845195
| FLNC | V1244L | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482288
- GRCh38:
- Chr7:128842234
| FLNC, LOC129999273 | A709S | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5,
Dilated Cardiomyopathy, Dominant | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128471056
- GRCh38:
- Chr7:128831002
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128489006
- GRCh38:
- Chr7:128848952
| FLNC | T1633A | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128491412
- GRCh38:
- Chr7:128851358
| FLNC, FLNC-AS1 | E1856G, E1889G | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128492651
- GRCh38:
- Chr7:128852597
| FLNC, FLNC-AS1 | D1917G, D1950G | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486931
- GRCh38:
- Chr7:128846877
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128481345
- GRCh38:
- Chr7:128841291
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128491663
- GRCh38:
- Chr7:128851609
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128484066
- GRCh38:
- Chr7:128844012
| FLNC | V980L | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128480073
- GRCh38:
- Chr7:128840019
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128496989
- GRCh38:
- Chr7:128856935
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482918
- GRCh38:
- Chr7:128842864
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494809
- GRCh38:
- Chr7:128854755
| FLNC-AS1, FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486445-128486446
- GRCh38:
- Chr7:128846391-128846392
| FLNC | R1352H | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(May 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482971
- GRCh38:
- Chr7:128842917
| FLNC | A838G | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486979
- GRCh38:
- Chr7:128846925
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486068
- GRCh38:
- Chr7:128846014
| FLNC | E1272G | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486833
- GRCh38:
- Chr7:128846779
| FLNC | E1388K | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494277-128494278
- GRCh38:
- Chr7:128854223-128854224
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128483360-128483361
- GRCh38:
- Chr7:128843306-128843307
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128492713
- GRCh38:
- Chr7:128852659
| FLNC, FLNC-AS1 | E1938K, E1971K | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128478811
- GRCh38:
- Chr7:128838757
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128483871
- GRCh38:
- Chr7:128843817
| FLNC | T945A | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128478866
- GRCh38:
- Chr7:128838812
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128491430
- GRCh38:
- Chr7:128851376
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128493825
- GRCh38:
- Chr7:128853771
| FLNC, FLNC-AS1 | R2107W, R2140W | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486132
- GRCh38:
- Chr7:128846078
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486335
- GRCh38:
- Chr7:128846281
| FLNC | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128493760
- GRCh38:
- Chr7:128853706
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494726
- GRCh38:
- Chr7:128854672
| FLNC, FLNC-AS1 | | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant,
Myofibrillar myopathy 5 | Uncertain significance
(Sep 3, 2022) | criteria provided, single submitter |