U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 115

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:155771592
GRCh38:
Chr5:156344582
SGCDR33*, R32*Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Pathogenic
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr5:156186289
GRCh38:
Chr5:156759278
SGCDT253K, T254KAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr5:156184632
GRCh38:
Chr5:156757621
SGCDK205E, K206EDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr5:156074482
GRCh38:
Chr5:156647472
SGCDG170S, G171Snot provided, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr5:156022011
GRCh38:
Chr5:156595001
SGCDS151F, S150Fnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Sep 3, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr5:156191336
GRCh38:
Chr5:156764325
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr5:156189215
GRCh38:
Chr5:156762204
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Oct 18, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr5:156189198
GRCh38:
Chr5:156762187
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr5:156187448
GRCh38:
Chr5:156760437
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Oct 18, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr5:156193967
GRCh38:
Chr5:156766956
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 18, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:156192587
GRCh38:
Chr5:156765576
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr5:156192528
GRCh38:
Chr5:156765517
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 18, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:156192285
GRCh38:
Chr5:156765274
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr5:156194757
GRCh38:
Chr5:156767746
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr5:156192220
GRCh38:
Chr5:156765209
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Sep 20, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr5:156188540
GRCh38:
Chr5:156761529
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr5:156188391
GRCh38:
Chr5:156761380
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 23, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr5:156188308
GRCh38:
Chr5:156761297
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr5:156188307
GRCh38:
Chr5:156761296
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr5:156186841
GRCh38:
Chr5:156759830
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Nov 16, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr5:156193065
GRCh38:
Chr5:156766054
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Oct 12, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr5:156192919
GRCh38:
Chr5:156765908
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Jul 9, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr5:156189981
GRCh38:
Chr5:156762970
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:155935710
GRCh38:
Chr5:156508700
SGCDP97S, P98SAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Inborn genetic diseases
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr5:155771520
GRCh38:
Chr5:156344510
SGCDH8Y, H9YDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Primary familial dilated cardiomyopathy
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:155771586
GRCh38:
Chr5:156344576
SGCDR30W, R31WAutosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
not provided
Uncertain significance
(Aug 18, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr5:156184609
GRCh38:
Chr5:156757598
SGCDR198Q, R197QAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr5:156186300
GRCh38:
Chr5:156759289
SGCDQ258*, Q257*Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(May 17, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr5:156184716
GRCh38:
Chr5:156757705
SGCDV234LDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FLikely pathogenic
(May 4, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr5:155754146-155754147
GRCh38:
Chr5:156327136-156327137
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Apr 24, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr5:156021903-156021923
GRCh38:
Chr5:156594893-156594913
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Apr 10, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr5:156186301-156186303
GRCh38:
Chr5:156759290-156759292
SGCDK259del, K258delAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr5:155756590
GRCh38:
Chr5:156329580
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Apr 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr5:155754243
GRCh38:
Chr5:156327233
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Mar 16, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr5:156184631
GRCh38:
Chr5:156757620
SGCDG206fs, G207fsDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FLikely pathogenic
(Mar 9, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr5:156184679
GRCh38:
Chr5:156757668
SGCDC221*, C220*Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Jun 10, 2020)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr5:155754244
GRCh38:
Chr5:156327234
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Feb 27, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr5:155756591
GRCh38:
Chr5:156329581
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Apr 11, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr5:155753656-155753667
GRCh38:
Chr5:156326647-156326657
SGCDnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Benign/Likely benign
(May 26, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:155754242-155754243
GRCh38:
Chr5:156327232-156327233
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Oct 14, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr5:155754244
GRCh38:
Chr5:156327234
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Nov 2, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr5:155771564
GRCh38:
Chr5:156344554
SGCDY23*, Y22*Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FLikely pathogenic
(Sep 1, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr5:155754243
GRCh38:
Chr5:156327233
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FUncertain significance
(Jun 28, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr5:156021894-156021895
GRCh38:
Chr5:156594884-156594885
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Jun 26, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr5:155771688
GRCh38:
Chr5:156344678
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Likely pathogenic
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:156021907-156021908
GRCh38:
Chr5:156594897-156594898
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2FLikely benign
(Jan 6, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr5:155756587
GRCh38:
Chr5:156329577
SGCDM1VAutosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr5:155771498
GRCh38:
Chr5:156344488
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr5:156021993
GRCh38:
Chr5:156594983
SGCDS145C, S144CAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Nov 5, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr5:156074537
GRCh38:
Chr5:156647527
SGCDK189R, K188RDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr5:156074530
GRCh38:
Chr5:156647520
SGCDP187S, P186SDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Sep 10, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr5:156022017
GRCh38:
Chr5:156595007
SGCDD153G, D152GDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
Uncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr5:156194781
GRCh38:
Chr5:156767770
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr5:156194511
GRCh38:
Chr5:156767500
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr5:156193997
GRCh38:
Chr5:156766986
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan, not provided
Benign/Likely benign
(Aug 25, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:156193960
GRCh38:
Chr5:156766949
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr5:156193908
GRCh38:
Chr5:156766897
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Jul 7, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr5:156193699
GRCh38:
Chr5:156766688
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Dec 23, 2021)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr5:156193632
GRCh38:
Chr5:156766621
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr5:156193234
GRCh38:
Chr5:156766223
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Jul 20, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr5:156193045-156193046
GRCh38:
Chr5:156766034-156766035
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Nov 8, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:156192624
GRCh38:
Chr5:156765613
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:156192466
GRCh38:
Chr5:156765455
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr5:156192308
GRCh38:
Chr5:156765297
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr5:156192150
GRCh38:
Chr5:156765139
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 18, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr5:156191992
GRCh38:
Chr5:156764981
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Oct 20, 2021)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr5:156191868
GRCh38:
Chr5:156764857
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Jul 28, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:156191738
GRCh38:
Chr5:156764727
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Oct 22, 2021)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr5:156191394
GRCh38:
Chr5:156764383
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Oct 14, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr5:156191009
GRCh38:
Chr5:156763998
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Jul 22, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr5:156190246
GRCh38:
Chr5:156763235
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Aug 10, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr5:156190180
GRCh38:
Chr5:156763169
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Aug 3, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr5:156189214
GRCh38:
Chr5:156762203
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr5:156189005
GRCh38:
Chr5:156761994
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Feb 2, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:156188257
GRCh38:
Chr5:156761246
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Oct 13, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr5:156188120
GRCh38:
Chr5:156761109
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Nov 16, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:156187307
GRCh38:
Chr5:156760296
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Oct 7, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr5:156187154
GRCh38:
Chr5:156760143
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Sep 14, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr5:156186559
GRCh38:
Chr5:156759548
SGCDLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Sep 14, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr5:156186244
GRCh38:
Chr5:156759233
SGCDA239V, A238VLimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr5:156022034
GRCh38:
Chr5:156595024
SGCDV159I, V158ILimb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Dilated Cardiomyopathy, Dominant
Uncertain significance
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr5:155754151
GRCh38:
Chr5:156327141
SGCDQualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Sep 14, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr5:156021908-156021909
GRCh38:
Chr5:156594898-156594899
SGCDnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Jan 5, 2017)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:155756600
GRCh38:
Chr5:156329590
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F,
not specified
Benign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr5:156184713
GRCh38:
Chr5:156757702
SGCDE233K, E232Knot specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr5:156186283
GRCh38:
Chr5:156759272
SGCDT252M, T251Mnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr5:155771686
GRCh38:
Chr5:156344676
SGCDI64T, I63TInborn genetic diseases, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Aug 8, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr5:155771655
GRCh38:
Chr5:156344645
SGCDI54V, I53Vnot provided, not specified, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr5:155771527
GRCh38:
Chr5:156344517
SGCDR11Q, R10Qnot provided, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr5:155771587
GRCh38:
Chr5:156344577
SGCDR31Q, R30QAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not specified,
Qualitative or quantitative defects of delta-sarcoglycan, not provided, Cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr5:155935686
GRCh38:
Chr5:156508676
SGCDY90N, Y89NDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr5:155756543
GRCh38:
Chr5:156329533
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
Uncertain significance
(Feb 14, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr5:155771672
GRCh38:
Chr5:156344662
SGCDnot specified, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Likely benign
(May 7, 2018)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr5:156021909-156021916
GRCh38:
Chr5:156594899-156594906
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not specified
Conflicting interpretations of pathogenicity
(Feb 6, 2018)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr5:155754253
GRCh38:
Chr5:156327243
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not specified,
Qualitative or quantitative defects of delta-sarcoglycan
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr5:155771487
GRCh38:
Chr5:156344477
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Conflicting interpretations of pathogenicity
(Aug 15, 2021)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr5:155753908
GRCh38:
Chr5:156326898
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1LUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr5:155754227
GRCh38:
Chr5:156327217
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1LUncertain significance
(Aug 18, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr5:156021953
GRCh38:
Chr5:156594943
SGCDV132I, V131Inot specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Aug 10, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr5:156184787
GRCh38:
Chr5:156757776
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not specified,
Dilated cardiomyopathy 1A, Primary dilated cardiomyopathy
Uncertain significance
(Aug 23, 2021)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination