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Items: 1 to 100 of 110

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:220285217
GRCh38:
Chr2:219420495
DESE245K, E246KDilated cardiomyopathy 1ILikely pathogenic
(Jul 4, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr2:220288527
GRCh38:
Chr2:219423805
DESA281P, A335P, A402P, A418P, A424P, A425PDilated cardiomyopathy 1I, Desmin-related myofibrillar myopathynot providedno assertion provided
3.
GRCh38:
Chr2:219420207-219462705
DES, LOC110121267, LOC126806518, SPEGDilated cardiomyopathy 1IUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:220285558
GRCh38:
Chr2:219420836
DESDilated cardiomyopathy 1IUncertain significance
(Jul 28, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:220286116
GRCh38:
Chr2:219421394
DESA359S, A353S, A360S, A270SDesmin-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
6.
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
7.
GRCh37:
Chr2:220285629
GRCh38:
Chr2:219420907
DESH325R, H326R, H236RDesmin-related myofibrillar myopathyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
8.
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
9.
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
10.
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
11.
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
12.
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
13.
GRCh37:
Chr2:220286148-220286150
GRCh38:
Chr2:219421426-219421428
DESE283del, E350del, E366del, E372del, E373delNeurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy
Uncertain significance
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
14.
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
15.
GRCh37:
Chr2:220283267
GRCh38:
Chr2:219418545
DESS28FCardiovascular phenotypeUncertain significance
(Sep 29, 2021)
criteria provided, single submitter
16.
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
17.
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
18.
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
19.
GRCh37:
Chr2:220291187
GRCh38:
Chr2:219426465
DESDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type
Benign/Likely benign
(Apr 27, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr2:220290824
GRCh38:
Chr2:219426102
DESDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
21.
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
22.
GRCh37:
Chr2:220291020
GRCh38:
Chr2:219426298
DESDesmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
23.
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
24.
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
25.
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
26.
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
27.
GRCh37:
Chr2:220290826
GRCh38:
Chr2:219426104
DESDilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type
Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr2:220283431
GRCh38:
Chr2:219418709
DESY83HDilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type
Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr2:220283131
GRCh38:
Chr2:219418409
DES-LCR, DESDilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr2:220285298
GRCh38:
Chr2:219420576
DESA273TDesmin-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
31.
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
32.
GRCh37:
Chr2:220288526
GRCh38:
Chr2:219423804
DESDilated 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
33.
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
34.
GRCh37:
Chr2:220284995
GRCh38:
Chr2:219420273
DESA221VCardiovascular 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
35.
GRCh37:
Chr2:220283410
GRCh38:
Chr2:219418688
DEST76fsDesmin-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
36.
GRCh37:
Chr2:220288543
GRCh38:
Chr2:219423821
DESCardiovascular 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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
GRCh37:
Chr2:220283725
GRCh38:
Chr2:219419003
DESD181NDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1IUncertain significance
(Aug 1, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr2:220285061
GRCh38:
Chr2:219420339
DESH243RDilated 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
48.
GRCh37:
Chr2:220283650
GRCh38:
Chr2:219418928
DESE156Knot 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
49.
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
50.
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
51.
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
52.
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
53.
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
54.
GRCh37:
Chr2:220291374
GRCh38:
Chr2:219426652
DESMyofibrillar 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
55.
GRCh37:
Chr2:220291271
GRCh38:
Chr2:219426549
DESMyofibrillar 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
56.
GRCh37:
Chr2:220291201
GRCh38:
Chr2:219426479
DESMyofibrillar Myopathy, Dominant, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type,
Dilated cardiomyopathy 1I
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr2:220291180
GRCh38:
Chr2:219426458
DESMyofibrillar 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
58.
GRCh37:
Chr2:220291140
GRCh38:
Chr2:219426418
DESMyofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome, Kaeser type,
Desmin-related myofibrillar myopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr2:220290910
GRCh38:
Chr2:219426188
DESMyofibrillar 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
60.
GRCh37:
Chr2:220283179
GRCh38:
Chr2:219418457
DESMyofibrillar 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
61.
GRCh37:
Chr2:220283111
GRCh38:
Chr2:219418389
DES, DES-LCRMyofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy,
Neurogenic scapuloperoneal syndrome, Kaeser type
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr2:220283178
GRCh38:
Chr2:219418456
DESnot provided, Dilated cardiomyopathy 1I, not specified
Conflicting interpretations of pathogenicity
(Jul 25, 2019)
criteria provided, conflicting interpretations
63.
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
64.
GRCh37:
Chr2:220285576
GRCh38:
Chr2:219420854
DESnot 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
65.
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
66.
GRCh37:
Chr2:220284779
GRCh38:
Chr2:219420057
DESDesmin-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
67.
GRCh37:
Chr2:220286076
GRCh38:
Chr2:219421354
DESM346ICardiovascular 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
68.
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
69.
GRCh37:
Chr2:220284872
GRCh38:
Chr2:219420150
DESR212*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
70.
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
71.
GRCh37:
Chr2:220283350
GRCh38:
Chr2:219418628
DESV56LCardiovascular 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
72.
GRCh37:
Chr2:220286281
GRCh38:
Chr2:219421559
DESR415WCardiovascular 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
73.
GRCh37:
Chr2:220286161
GRCh38:
Chr2:219421439
DESR375WCardiovascular 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
74.
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
75.
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
76.
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
77.
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
78.
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
79.
GRCh37:
Chr2:220283400
GRCh38:
Chr2:219418678
DESS72RCardiovascular 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
80.
GRCh37:
Chr2:220284998
GRCh38:
Chr2:219420276
DESR222HMyofibrillar 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
81.
GRCh37:
Chr2:220284873
GRCh38:
Chr2:219420151
DESR212QMyofibrillar 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
82.
GRCh37:
Chr2:220285374
GRCh38:
Chr2:219420652
DESS298LPrimary 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
83.
GRCh37:
Chr2:220285068
GRCh38:
Chr2:219420346
DESE245DDesmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, not provided
Pathogenic/Likely pathogenic
(Mar 14, 2022)
criteria provided, multiple submitters, no conflicts
84.
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
85.
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
86.
GRCh37:
Chr2:220285586
GRCh38:
Chr2:219420864
DESD312NCardiovascular 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
87.
GRCh37:
Chr2:220285381-220285382
GRCh38:
Chr2:219420659-219420660
DESMyofibrillar 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
88.
GRCh37:
Chr2:220285309
GRCh38:
Chr2:219420587
DESMyofibrillar 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
89.
GRCh37:
Chr2:220285273
GRCh38:
Chr2:219420551
DESMyofibrillar 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
90.
GRCh37:
Chr2:220285042
GRCh38:
Chr2:219420320
DESA237TNeurogenic 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
91.
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
92.
GRCh37:
Chr2:220284876
GRCh38:
Chr2:219420154
DESA213VMyofibrillar 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
93.
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
94.
GRCh37:
Chr2:220283592
GRCh38:
Chr2:219418870
DESMyofibrillar 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
95.
GRCh37:
Chr2:220283591
GRCh38:
Chr2:219418869
DESL136HMyopathy, 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
96.
GRCh37:
Chr2:220283556
GRCh38:
Chr2:219418834
DESMyofibrillar 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
97.
GRCh37:
Chr2:220283377
GRCh38:
Chr2:219418655
DESG65SNeurogenic 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
98.
GRCh37:
Chr2:220283202
GRCh38:
Chr2:219418480
DESMyofibrillar 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
99.
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
100.
GRCh37:
Chr2:220290674
GRCh38:
Chr2:219425952
DESV459IMyofibrillar 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
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