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Items: 1 to 100 of 109

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr2:220288527
GRCh38:
Chr2:219423805
DESA281P, A335P, A402P, A418P, A424P, A425PDilated cardiomyopathy 1I, Desmin-related myofibrillar myopathynot providedno assertion provided
2.
GRCh38:
Chr2:219420207-219462705
DES, LOC110121267, LOC126806518, SPEGDilated cardiomyopathy 1IUncertain significance
(Aug 12, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr2:220285558
GRCh38:
Chr2:219420836
DESDilated cardiomyopathy 1IUncertain significance
(Jul 28, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr2:220286116
GRCh38:
Chr2:219421394
DESA359S, A353S, A360S, A270SDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided		Uncertain significance
(Feb 6, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:220283429
GRCh38:
Chr2:219418707
DESS82FDesmin-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
6.
GRCh37:
Chr2:220285629
GRCh38:
Chr2:219420907
DESH325R, H326R, H236RDesmin-related myofibrillar myopathyUncertain significance
(Aug 31, 2021)		criteria provided, single submitter
7.
GRCh37:
Chr2:220286142-220286143
GRCh38:
Chr2:219421420-219421421
DESR346C, R279C, R368C, R362C, R369CDesmin-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
8.
GRCh37:
Chr2:220284853
GRCh38:
Chr2:219420131
DESE205DDesmin-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
9.
GRCh37:
Chr2:220283678
GRCh38:
Chr2:219418956
DESQ165Rnot provided, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type		Uncertain significance
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:220288512
GRCh38:
Chr2:219423790
DESI276L, I330L, I397L, I413L, I419L, I420LDesmin-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
11.
GRCh37:
Chr2:220285366
GRCh38:
Chr2:219420644
DESW294*, 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
12.
GRCh37:
Chr2:220286148-220286150
GRCh38:
Chr2:219421426-219421428
DESE283del, E350del, E366del, E372del, E373delDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type
Uncertain significance
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:220286117
GRCh38:
Chr2:219421395
DESA270V, A353V, A359V, A360VDesmin-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
14.
GRCh37:
Chr2:220283267
GRCh38:
Chr2:219418545
DESS28FCardiovascular phenotypeUncertain significance
(Sep 29, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr2:220283701
GRCh38:
Chr2:219418979
DESR173SCardiovascular 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
16.
GRCh37:
Chr2:220283366
GRCh38:
Chr2:219418644
DESG61DDesmin-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
17.
GRCh37:
Chr2:220283588
GRCh38:
Chr2:219418866
DESA135GDesmin-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
18.
GRCh37:
Chr2:220291187
GRCh38:
Chr2:219426465
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Benign/Likely benign
(Apr 27, 2017)		criteria provided, single submitter
19.
GRCh37:
Chr2:220290824
GRCh38:
Chr2:219426102
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr2:220290763
GRCh38:
Chr2:219426041
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Conflicting interpretations of pathogenicity
(Apr 27, 2017)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr2:220291020
GRCh38:
Chr2:219426298
DESDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr2:220291407
GRCh38:
Chr2:219426685
DESDesmin-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
23.
GRCh37:
Chr2:220291007
GRCh38:
Chr2:219426285
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr2:220290992
GRCh38:
Chr2:219426270
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr2:220285079
GRCh38:
Chr2:219420357
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Conflicting interpretations of pathogenicity
(Mar 8, 2021)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr2:220290826
GRCh38:
Chr2:219426104
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr2:220283431
GRCh38:
Chr2:219418709
DESY83HDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr2:220283131
GRCh38:
Chr2:219418409
DES, DES-LCRDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr2:220285298
GRCh38:
Chr2:219420576
DESA273TDesmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type		Uncertain significance
(Apr 14, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:220283506
GRCh38:
Chr2:219418784
DESE108*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
31.
GRCh37:
Chr2:220288526
GRCh38:
Chr2:219423804
DESDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy		Likely benign
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr2:220283249
GRCh38:
Chr2:219418527
DESP22RDilated 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
33.
GRCh37:
Chr2:220284995
GRCh38:
Chr2:219420273
DESA221VCardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy		Uncertain significance
(May 5, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:220283410
GRCh38:
Chr2:219418688
DEST76fsDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy		Pathogenic
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:220288543
GRCh38:
Chr2:219423821
DESCardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I, not provided, Desmin-related myofibrillar myopathy
Conflicting interpretations of pathogenicity
(Feb 2, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr2:220290421
GRCh38:
Chr2:219425699
DEST442NDesmin-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
37.
GRCh37:
Chr2:220286282
GRCh38:
Chr2:219421560
DESR415QDesmin-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
38.
GRCh37:
Chr2:220286101
GRCh38:
Chr2:219421379
DESR355*Cardiovascular phenotype, Dilated cardiomyopathy 1I, not provided
Conflicting interpretations of pathogenicity
(Dec 30, 2022)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr2:220286087
GRCh38:
Chr2:219421365
DESR350QCardiovascular 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
40.
GRCh37:
Chr2:220283277
GRCh38:
Chr2:219418555
DESS31RDesmin-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
41.
GRCh37:
Chr2:220283351
GRCh38:
Chr2:219418629
DESV56Enot 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
42.
GRCh37:
Chr2:220283413
GRCh38:
Chr2:219418691
DEST77ACardiovascular 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
43.
GRCh37:
Chr2:220286186
GRCh38:
Chr2:219421464
DESR383HCardiovascular 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
44.
GRCh37:
Chr2:220286143
GRCh38:
Chr2:219421421
DESR369CCardiovascular 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
45.
GRCh37:
Chr2:220283725
GRCh38:
Chr2:219419003
DESD181NDilated cardiomyopathy 1I, Desmin-related myofibrillar myopathyUncertain significance
(Aug 1, 2017)		criteria provided, single submitter
46.
GRCh37:
Chr2:220285061
GRCh38:
Chr2:219420339
DESH243RNeurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
not provided, Cardiovascular phenotype		Uncertain significance
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:220283650
GRCh38:
Chr2:219418928
DESE156KDesmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I, not provided, not specified
Uncertain significance
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:220283293
GRCh38:
Chr2:219418571
DESR37GDesmin-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
49.
GRCh37:
Chr2:220283575
GRCh38:
Chr2:219418853
DESQ131KDesmin-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
50.
GRCh37:
Chr2:220286102
GRCh38:
Chr2:219421380
DESR355QDilated 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
51.
GRCh37:
Chr2:220285661
GRCh38:
Chr2:219420939
DESA337TCardiovascular 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
52.
GRCh37:
Chr2:220286255
GRCh38:
Chr2:219421533
DESR406QCardiovascular 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
53.
GRCh37:
Chr2:220291374
GRCh38:
Chr2:219426652
DESDesmin-related myofibrillar myopathy, not provided, Myofibrillar Myopathy, Dominant,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I		Benign/Likely benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:220291271
GRCh38:
Chr2:219426549
DESDesmin-related myofibrillar myopathy, Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr2:220291201
GRCh38:
Chr2:219426479
DESDesmin-related myofibrillar myopathy, Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr2:220291180
GRCh38:
Chr2:219426458
DESDesmin-related myofibrillar myopathy, not provided, Neurogenic scapuloperoneal syndrome, Kaeser type,
Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I		Benign/Likely benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:220291140
GRCh38:
Chr2:219426418
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Myofibrillar Myopathy, Dominant,
Dilated cardiomyopathy 1I		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr2:220290910
GRCh38:
Chr2:219426188
DESDesmin-related myofibrillar myopathy, Myofibrillar Myopathy, Dominant, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr2:220283179
GRCh38:
Chr2:219418457
DESDesmin-related myofibrillar myopathy, Myofibrillar Myopathy, Dominant, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I, not specified		Uncertain significance
(Feb 1, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:220283111
GRCh38:
Chr2:219418389
DES, DES-LCRDesmin-related myofibrillar myopathy, Myofibrillar Myopathy, Dominant, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr2:220283178
GRCh38:
Chr2:219418456
DESnot provided, Dilated cardiomyopathy 1I, not specified
Conflicting interpretations of pathogenicity
(Jul 25, 2019)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr2:220288540
GRCh38:
Chr2:219423818
DESR429Qnot 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
63.
GRCh37:
Chr2:220285576
GRCh38:
Chr2:219420854
DESCardiovascular phenotype, Myofibrillar Myopathy, Dominant, not provided,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr2:220283293
GRCh38:
Chr2:219418571
DESR37Wnot 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
65.
GRCh37:
Chr2:220284779
GRCh38:
Chr2:219420057
DESDesmin-related myofibrillar myopathy, not specified, not provided,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type		Benign
(Jul 30, 2021)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:220286076
GRCh38:
Chr2:219421354
DESM346ICardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy		Uncertain significance
(Jul 21, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:220284976
GRCh38:
Chr2:219420254
DESV215MCardiovascular 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
68.
GRCh37:
Chr2:220284872
GRCh38:
Chr2:219420150
DESR212*Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy, not provided		Pathogenic/Likely pathogenic
(May 11, 2023)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:220283417
GRCh38:
Chr2:219418695
DESR78LDesmin-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
70.
GRCh37:
Chr2:220283350
GRCh38:
Chr2:219418628
DESV56LCardiovascular phenotype, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, not specified,
not provided		Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:220286281
GRCh38:
Chr2:219421559
DESR415WCardiovascular phenotype, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, not provided
Uncertain significance
(Feb 28, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:220286161
GRCh38:
Chr2:219421439
DESR375WDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy, not provided, Dilated cardiomyopathy 1A
Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:220286065
GRCh38:
Chr2:219421343
DESD343NDesmin-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
74.
GRCh37:
Chr2:220285060
GRCh38:
Chr2:219420338
DESH243YCardiovascular 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
75.
GRCh37:
Chr2:220285013
GRCh38:
Chr2:219420291
DESR227HCardiovascular 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
76.
GRCh37:
Chr2:220283141
GRCh38:
Chr2:219418419
DES-LCR, DESMyofibrillar 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
77.
GRCh37:
Chr2:220284957
GRCh38:
Chr2:219420235
DESDesmin-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
78.
GRCh37:
Chr2:220283400
GRCh38:
Chr2:219418678
DESS72RCardiovascular phenotype, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, not specified,
Neurogenic scapuloperoneal syndrome, Kaeser type, not provided, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr2:220284998
GRCh38:
Chr2:219420276
DESR222HDesmin-related myofibrillar myopathy, Myofibrillar Myopathy, Dominant, Cardiovascular phenotype,
not specified, not provided, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type		Conflicting interpretations of pathogenicity
(Nov 7, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr2:220284873
GRCh38:
Chr2:219420151
DESR212QDesmin-related myofibrillar myopathy, Cardiovascular phenotype, Myofibrillar Myopathy, Dominant,
not specified, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, See cases
Conflicting interpretations of pathogenicity
(Oct 29, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:220285374
GRCh38:
Chr2:219420652
DESS298LDesmin-related myofibrillar myopathy, not provided, Dilated cardiomyopathy 1I,
Neurogenic scapuloperoneal syndrome, Kaeser type, Primary dilated cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr2:220285068
GRCh38:
Chr2:219420346
DESE245DDesmin-related myofibrillar myopathy, not provided, Dilated cardiomyopathy 1I
Pathogenic/Likely pathogenic
(Mar 14, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr2:220283506
GRCh38:
Chr2:219418784
DESE108KDesmin-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
84.
GRCh37:
Chr2:220290429
GRCh38:
Chr2:219425707
DEST445ADesmin-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
85.
GRCh37:
Chr2:220285586
GRCh38:
Chr2:219420864
DESD312NCardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
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
86.
GRCh37:
Chr2:220285381-220285382
GRCh38:
Chr2:219420659-219420660
DESCardiovascular phenotype, Dilated Cardiomyopathy, Dominant, Myofibrillar Myopathy, Dominant,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not specified, not provided,
Cardiomyopathy, Dilated cardiomyopathy 1IScapuloperoneal weakness,
...see more		Benign/Likely benign
(Feb 13, 2023)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr2:220285309
GRCh38:
Chr2:219420587
DESCardiovascular phenotype, Myofibrillar Myopathy, Dominant, 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
88.
GRCh37:
Chr2:220285273
GRCh38:
Chr2:219420551
DESCardiovascular phenotype, Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, 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
89.
GRCh37:
Chr2:220285042
GRCh38:
Chr2:219420320
DESA237TDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, not provided, not specified
Uncertain significance
(Jul 24, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:220284975
GRCh38:
Chr2:219420253
DESCardiovascular 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
91.
GRCh37:
Chr2:220284876
GRCh38:
Chr2:219420154
DESA213VCardiovascular phenotype, Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy,
not specified, 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
92.
GRCh37:
Chr2:220283773
GRCh38:
Chr2:219419051
DESMyofibrillar 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
93.
GRCh37:
Chr2:220283592
GRCh38:
Chr2:219418870
DESCardiovascular phenotype, Myofibrillar Myopathy, Dominant, 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
94.
GRCh37:
Chr2:220283591
GRCh38:
Chr2:219418869
DESL136HProximal muscle weakness in upper limbs, Infantile axial hypotonia, Neonatal respiratory distress,
Restrictive ventilatory defect, Generalized hypotonia, Neonatal hypotonia,
Respiratory insufficiency due to muscle weakness, Skeletal myopathy, Abnormal pulmonary interstitial morphology,
Congenital peripheral neuropathy, MyopathyPulmonary alveolar proteinosis,
Proximal muscle weakness, Respiratory distress, Cardiovascular phenotype,
Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy,
Desmin-related myofibrillar myopathy, not specified, not provided,
Cardiomyopathy, ...see more		Uncertain significance
(Mar 8, 2023)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:220283556
GRCh38:
Chr2:219418834
DESCardiovascular phenotype, Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy,
not provided, not specified, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:220283377
GRCh38:
Chr2:219418655
DESG65SDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, 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
97.
GRCh37:
Chr2:220283202
GRCh38:
Chr2:219418480
DESCardiovascular phenotype, Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy,
not provided, not specified, Cardiomyopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I		Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr2:220283354
GRCh38:
Chr2:219418632
DESS57LCardiovascular 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
99.
GRCh37:
Chr2:220290674
GRCh38:
Chr2:219425952
DESV459ICardiovascular phenotype, Myofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy,
not specified, not provided, Cardiomyopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, Primary dilated cardiomyopathy
Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:220283298
GRCh38:
Chr2:219418576
DESCardiovascular phenotype, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I,
Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, not specified,
Cardiomyopathy		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
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