| - GRCh37:
- Chr2:220285217
- GRCh38:
- Chr2:219420495
| DES | E245K, E246K | Dilated cardiomyopathy 1I | Likely pathogenic
(Jul 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220288527
- GRCh38:
- Chr2:219423805
| DES | A281P, A335P, A402P, A418P, A424P, A425P | Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy | not provided | no assertion provided |
| - GRCh38:
- Chr2:219420207-219462705
| DES, LOC110121267, LOC126806518, SPEG | | Dilated cardiomyopathy 1I | Uncertain significance
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220285558
- GRCh38:
- Chr2:219420836
| DES | | Dilated cardiomyopathy 1I | Uncertain significance
(Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220286116
- GRCh38:
- Chr2:219421394
| DES | A359S, A353S, A360S, A270S | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided | Uncertain significance
(Jun 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283429
- GRCh38:
- Chr2:219418707
| DES | S82F | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type | Uncertain significance
(Sep 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285629
- GRCh38:
- Chr2:219420907
| DES | H325R, H326R, H236R | Desmin-related myofibrillar myopathy | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220286142-220286143
- GRCh38:
- Chr2:219421420-219421421
| DES | R346C, R279C, R368C, R362C, R369C | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy | Uncertain significance
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284853
- GRCh38:
- Chr2:219420131
| DES | E205D | Desmin-related myofibrillar myopathy, not provided, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283678
- GRCh38:
- Chr2:219418956
| DES | Q165R | not provided, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type | Uncertain significance
(Oct 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220288512
- GRCh38:
- Chr2:219423790
| DES | I276L, I330L, I397L, I413L, I419L, I420L | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285366
- GRCh38:
- Chr2:219420644
| DES | W294*, W295*, W205* | Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
not provided, Desmin-related myofibrillar myopathy | Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286148-220286150
- GRCh38:
- Chr2:219421426-219421428
| DES | E283del, E350del, E366del, E372del, E373del | Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy
| Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286117
- GRCh38:
- Chr2:219421395
| DES | A270V, A353V, A359V, A360V | Desmin-related myofibrillar myopathy, not provided, Cardiovascular phenotype,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Uncertain significance
(Apr 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283267
- GRCh38:
- Chr2:219418545
| DES | S28F | Cardiovascular phenotype | Uncertain significance
(Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220283701
- GRCh38:
- Chr2:219418979
| DES | R173S | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283366
- GRCh38:
- Chr2:219418644
| DES | G61D | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283588
- GRCh38:
- Chr2:219418866
| DES | A135G | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220291187
- GRCh38:
- Chr2:219426465
| DES | | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type
| Benign/Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220290824
- GRCh38:
- Chr2:219426102
| DES | | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220290763
- GRCh38:
- Chr2:219426041
| DES | | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Conflicting interpretations of pathogenicity
(Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220291020
- GRCh38:
- Chr2:219426298
| DES | | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220291407
- GRCh38:
- Chr2:219426685
| DES | | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Uncertain significance
(Aug 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220291007
- GRCh38:
- Chr2:219426285
| DES | | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220290992
- GRCh38:
- Chr2:219426270
| DES | | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220285079
- GRCh38:
- Chr2:219420357
| DES | | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Conflicting interpretations of pathogenicity
(Mar 8, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220290826
- GRCh38:
- Chr2:219426104
| DES | | Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type
| Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220283431
- GRCh38:
- Chr2:219418709
| DES | Y83H | Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type
| Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220283131
- GRCh38:
- Chr2:219418409
| DES-LCR, DES | | Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220285298
- GRCh38:
- Chr2:219420576
| DES | A273T | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy | Uncertain significance
(Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283506
- GRCh38:
- Chr2:219418784
| DES | E108* | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided | Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220288526
- GRCh38:
- Chr2:219423804
| DES | | Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
Desmin-related myofibrillar myopathy | Likely benign
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283249
- GRCh38:
- Chr2:219418527
| DES | P22R | Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
Desmin-related myofibrillar myopathy | Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284995
- GRCh38:
- Chr2:219420273
| DES | A221V | Cardiovascular phenotype, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy | Uncertain significance
(May 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283410
- GRCh38:
- Chr2:219418688
| DES | T76fs | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy | Pathogenic
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220288543
- GRCh38:
- Chr2:219423821
| DES | | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, not provided
| Conflicting interpretations of pathogenicity
(Apr 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220290421
- GRCh38:
- Chr2:219425699
| DES | T442N | Desmin-related myofibrillar myopathy, Cardiomyopathy, not provided,
Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286282
- GRCh38:
- Chr2:219421560
| DES | R415Q | Desmin-related myofibrillar myopathy, Cardiomyopathy, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I | Uncertain significance
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286101
- GRCh38:
- Chr2:219421379
| DES | R355* | Cardiovascular phenotype, Dilated cardiomyopathy 1I, not provided
| Conflicting interpretations of pathogenicity
(Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220286087
- GRCh38:
- Chr2:219421365
| DES | R350Q | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, not provided
| Uncertain significance
(Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283277
- GRCh38:
- Chr2:219418555
| DES | S31R | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283351
- GRCh38:
- Chr2:219418629
| DES | V56E | not specified, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283413
- GRCh38:
- Chr2:219418691
| DES | T77A | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, not provided
| Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220286186
- GRCh38:
- Chr2:219421464
| DES | R383H | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, not provided
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286143
- GRCh38:
- Chr2:219421421
| DES | R369C | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, not provided
| Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283725
- GRCh38:
- Chr2:219419003
| DES | D181N | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I | Uncertain significance
(Aug 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220285061
- GRCh38:
- Chr2:219420339
| DES | H243R | Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy | Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283650
- GRCh38:
- Chr2:219418928
| DES | E156K | not provided, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, not specified
| Uncertain significance
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283293
- GRCh38:
- Chr2:219418571
| DES | R37G | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided | Uncertain significance
(May 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283575
- GRCh38:
- Chr2:219418853
| DES | Q131K | Desmin-related myofibrillar myopathy, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, not provided
| Uncertain significance
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286102
- GRCh38:
- Chr2:219421380
| DES | R355Q | Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
not provided, Desmin-related myofibrillar myopathy | Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285661
- GRCh38:
- Chr2:219420939
| DES | A337T | Cardiovascular phenotype, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy, not provided, Desmin-related myofibrillar myopathy
| Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286255
- GRCh38:
- Chr2:219421533
| DES | R406Q | Cardiovascular phenotype, not provided, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy
| Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220291374
- GRCh38:
- Chr2:219426652
| DES | | Myofibrillar Myopathy, Dominant, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not provided | Benign/Likely benign
(May 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220291271
- GRCh38:
- Chr2:219426549
| DES | | Myofibrillar Myopathy, Dominant, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220291201
- GRCh38:
- Chr2:219426479
| DES | | Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220291180
- GRCh38:
- Chr2:219426458
| DES | | Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
not provided, Neurogenic scapuloperoneal syndrome, Kaeser type | Benign/Likely benign
(May 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220291140
- GRCh38:
- Chr2:219426418
| DES | | Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220290910
- GRCh38:
- Chr2:219426188
| DES | | Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220283179
- GRCh38:
- Chr2:219418457
| DES | | Myofibrillar Myopathy, Dominant, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not specified | Uncertain significance
(Feb 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283111
- GRCh38:
- Chr2:219418389
| DES, DES-LCR | | Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220283178
- GRCh38:
- Chr2:219418456
| DES | | not provided, Dilated cardiomyopathy 1I, not specified
| Conflicting interpretations of pathogenicity
(Jul 25, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220288540
- GRCh38:
- Chr2:219423818
| DES | R429Q | not provided, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not specified, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type | Uncertain significance
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285576
- GRCh38:
- Chr2:219420854
| DES | | not provided, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, Desmin-related myofibrillar myopathy
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220283293
- GRCh38:
- Chr2:219418571
| DES | R37W | not specified, Cardiovascular phenotype, not provided,
Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy | Uncertain significance
(Jan 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284779
- GRCh38:
- Chr2:219420057
| DES | | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
not specified, not provided | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286076
- GRCh38:
- Chr2:219421354
| DES | M346I | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy | Uncertain significance
(Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284976
- GRCh38:
- Chr2:219420254
| DES | V215M | Cardiovascular phenotype, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Primary familial hypertrophic cardiomyopathy, not provided | Uncertain significance
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284872
- GRCh38:
- Chr2:219420150
| DES | R212* | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not provided | Pathogenic/Likely pathogenic
(May 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283417
- GRCh38:
- Chr2:219418695
| DES | R78L | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283350
- GRCh38:
- Chr2:219418628
| DES | V56L | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, not specified,
not provided | Uncertain significance
(Apr 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286281
- GRCh38:
- Chr2:219421559
| DES | R415W | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, not provided
| Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286161
- GRCh38:
- Chr2:219421439
| DES | R375W | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, not provided,
Dilated cardiomyopathy 1A | Uncertain significance
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220286065
- GRCh38:
- Chr2:219421343
| DES | D343N | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285060
- GRCh38:
- Chr2:219420338
| DES | H243Y | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, not provided
| Uncertain significance
(Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285013
- GRCh38:
- Chr2:219420291
| DES | R227H | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, not provided
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283141
- GRCh38:
- Chr2:219418419
| DES-LCR, DES | | Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy, not specified,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type | Benign/Likely benign
(Apr 27, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284957
- GRCh38:
- Chr2:219420235
| DES | | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, not specified | Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283400
- GRCh38:
- Chr2:219418678
| DES | S72R | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, not specified,
Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
not provided, Cardiomyopathy, Neurogenic scapuloperoneal syndrome, Kaeser type
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220284998
- GRCh38:
- Chr2:219420276
| DES | R222H | Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not provided, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
not specified | Conflicting interpretations of pathogenicity
(Nov 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220284873
- GRCh38:
- Chr2:219420151
| DES | R212Q | Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, Cardiovascular phenotype, not provided,
Cardiomyopathy, not specified, See cases
| Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220285374
- GRCh38:
- Chr2:219420652
| DES | S298L | Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy, not provided,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220285068
- GRCh38:
- Chr2:219420346
| DES | E245D | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, not provided
| Pathogenic/Likely pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283506
- GRCh38:
- Chr2:219418784
| DES | E108K | Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
not provided, Desmin-related myofibrillar myopathy | Uncertain significance
(Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220290429
- GRCh38:
- Chr2:219425707
| DES | T445A | Desmin-related myofibrillar myopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, not provided
| Uncertain significance
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285586
- GRCh38:
- Chr2:219420864
| DES | D312N | Cardiovascular phenotype, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, not specified,
not provided, Cardiomyopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I, Primary dilated cardiomyopathy ...see more | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220285381-220285382
- GRCh38:
- Chr2:219420659-219420660
| DES | | Myofibrillar Myopathy, Dominant, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype,
Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not specified, not provided,
Cardiomyopathy, Dilated cardiomyopathy 1IScapuloperoneal weakness,
...see more | Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285309
- GRCh38:
- Chr2:219420587
| DES | | Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not specified, not provided, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285273
- GRCh38:
- Chr2:219420551
| DES | | Myofibrillar Myopathy, Dominant, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not specified, not provided, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220285042
- GRCh38:
- Chr2:219420320
| DES | A237T | Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not specified, not provided
| Uncertain significance
(Jul 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220284975
- GRCh38:
- Chr2:219420253
| DES | | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, not specified,
not provided, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220284876
- GRCh38:
- Chr2:219420154
| DES | A213V | Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, not specified,
Desmin-related myofibrillar myopathy, not provided, Cardiomyopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, Congenital diaphragmatic hernia
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220283773
- GRCh38:
- Chr2:219419051
| DES | | Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy, not specified,
not provided, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283592
- GRCh38:
- Chr2:219418870
| DES | | Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not specified, not provided, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283591
- GRCh38:
- Chr2:219418869
| DES | L136H | Myopathy, Neonatal respiratory distress, Restrictive ventilatory defect,
Congenital peripheral neuropathy, Proximal muscle weakness, Abnormal pulmonary interstitial morphology,
Generalized hypotonia, Neonatal hypotonia, Skeletal myopathy,
Pulmonary alveolar proteinosis, Proximal muscle weakness in upper limbsInfantile axial hypotonia,
Respiratory insufficiency due to muscle weakness, Respiratory distress, Cardiovascular phenotype,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, not specified, not provided,
Cardiomyopathy, ...see more | Uncertain significance
(Jun 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283556
- GRCh38:
- Chr2:219418834
| DES | | Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not specified, not provided, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220283377
- GRCh38:
- Chr2:219418655
| DES | G65S | Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not specified, not provided,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220283202
- GRCh38:
- Chr2:219418480
| DES | | Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not specified, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type | Conflicting interpretations of pathogenicity
(Jul 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220283354
- GRCh38:
- Chr2:219418632
| DES | S57L | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, not specified,
not provided, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
| Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:220290674
- GRCh38:
- Chr2:219425952
| DES | V459I | Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, Desmin-related myofibrillar myopathy,
not specified, not provided, Cardiomyopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, Primary dilated cardiomyopathy
| Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |