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 173

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:155935622
GRCh38:
Chr5:156508612
SGCDInborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr5:155771592
GRCh38:
Chr5:156344582
SGCDR33*, R32*not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Pathogenic
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr5:156074505
GRCh38:
Chr5:156647495
SGCDI177M, I178MInborn genetic diseases, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr5:156186289
GRCh38:
Chr5:156759278
SGCDT253K, T254KAutosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr5:155771526
GRCh38:
Chr5:156344516
SGCDR11W, R10Wnot specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Inborn genetic diseases
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr5:156186277
GRCh38:
Chr5:156759266
SGCDS249F, S250FDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr5:156016283
GRCh38:
Chr5:156589273
SGCDN112H, N113HAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr5:155771600
GRCh38:
Chr5:156344590
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Inborn genetic diseases
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr5:156016309
GRCh38:
Chr5:156589299
SGCDInborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr5:156186326
GRCh38:
Chr5:156759315
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Inborn genetic diseases
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:156022006
GRCh38:
Chr5:156594996
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr5:156186311
GRCh38:
Chr5:156759300
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:155935692
GRCh38:
Chr5:156508682
SGCDK91Q, K92QDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Cardiomyopathy
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr5:156184602
GRCh38:
Chr5:156757591
SGCDP195T, P196Tnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr5:156184632
GRCh38:
Chr5:156757621
SGCDK205E, K206EAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr5:156074482
GRCh38:
Chr5:156647472
SGCDG170S, G171SAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, not provided, Inborn genetic diseases
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr5:156016244
GRCh38:
Chr5:156589234
SGCDN100H, N99HAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
18.
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, Dilated cardiomyopathy 1L
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr5:156191336
GRCh38:
Chr5:156764325
SGCDDilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr5:156189215
GRCh38:
Chr5:156762204
SGCDDilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr5:156189198
GRCh38:
Chr5:156762187
SGCDDilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr5:156187448
GRCh38:
Chr5:156760437
SGCDDilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr5:156193967
GRCh38:
Chr5:156766956
SGCDDilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:156192587
GRCh38:
Chr5:156765576
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr5:156192528
GRCh38:
Chr5:156765517
SGCDDilated cardiomyopathy 1L, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr5:156192285
GRCh38:
Chr5:156765274
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr5:156194757
GRCh38:
Chr5:156767746
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr5:156192220
GRCh38:
Chr5:156765209
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr5:156188540
GRCh38:
Chr5:156761529
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr5:156188391
GRCh38:
Chr5:156761380
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr5:156188308
GRCh38:
Chr5:156761297
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr5:156188307
GRCh38:
Chr5:156761296
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr5:156186841
GRCh38:
Chr5:156759830
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:156193065
GRCh38:
Chr5:156766054
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr5:156192919
GRCh38:
Chr5:156765908
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr5:156189981
GRCh38:
Chr5:156762970
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr5:155935710
GRCh38:
Chr5:156508700
SGCDP97S, P98SAutosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Dilated cardiomyopathy 1L, Inborn genetic diseases
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr5:155771648
GRCh38:
Chr5:156344638
SGCDInborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr5:156184646
GRCh38:
Chr5:156757635
SGCDnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:156074509
GRCh38:
Chr5:156647499
SGCDT179S, T180SPrimary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
not provided
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr5:155771520
GRCh38:
Chr5:156344510
SGCDH8Y, H9Ynot provided, Inborn genetic diseases, Primary familial dilated cardiomyopathy,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr5:156184658
GRCh38:
Chr5:156757647
SGCDnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr5:156186327
GRCh38:
Chr5:156759316
SGCDA267T, A266TAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr5:155771586
GRCh38:
Chr5:156344576
SGCDR30W, R31WAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr5:156186360
GRCh38:
Chr5:156759349
SGCDA278S, A277SInborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:156016298
GRCh38:
Chr5:156589288
SGCDQ118K, Q117Knot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr5:156016304
GRCh38:
Chr5:156589294
SGCDK120E, K119Enot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
48.
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,
Dilated cardiomyopathy 1L
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr5:156016286
GRCh38:
Chr5:156589276
SGCDI114V, I113Vnot specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
50.
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
51.
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
52.
GRCh37:
Chr5:155754146-155754147
GRCh38:
Chr5:156327136-156327137
SGCDAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1LUncertain significance
(Apr 24, 2018)
criteria provided, single submitter
53.
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
54.
GRCh37:
Chr5:156186301-156186303
GRCh38:
Chr5:156759290-156759292
SGCDK259del, K258delDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
55.
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
56.
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
57.
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
58.
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
59.
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
60.
GRCh37:
Chr5:155756591
GRCh38:
Chr5:156329581
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr5:155753656-155753667
GRCh38:
Chr5:156326647-156326657
SGCDnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:155754242-155754243
GRCh38:
Chr5:156327232-156327233
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:155754244
GRCh38:
Chr5:156327234
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
64.
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
65.
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
66.
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
67.
GRCh37:
Chr5:155771688
GRCh38:
Chr5:156344678
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Likely pathogenic
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
68.
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
69.
GRCh37:
Chr5:155756587
GRCh38:
Chr5:156329577
SGCDM1VDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr5:155771593
GRCh38:
Chr5:156344583
SGCDR33Q, R32Qnot provided, Inborn genetic diseases, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr5:155771498
GRCh38:
Chr5:156344488
SGCDnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr5:156186314
GRCh38:
Chr5:156759303
SGCDnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr5:156016201
GRCh38:
Chr5:156589191
SGCDnot specified, not provided, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr5:156186345
GRCh38:
Chr5:156759334
SGCDInborn genetic diseases, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:156021993
GRCh38:
Chr5:156594983
SGCDS145C, S144CAutosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr5:156016300
GRCh38:
Chr5:156589290
SGCDQ118H, Q117Hnot provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Inborn genetic diseases
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:156074537
GRCh38:
Chr5:156647527
SGCDK189R, K188RInborn genetic diseases, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr5:156074530
GRCh38:
Chr5:156647520
SGCDP187S, P186SDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr5:156022017
GRCh38:
Chr5:156595007
SGCDD153G, D152Gnot provided, Dilated cardiomyopathy 1L, Inborn genetic diseases,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr5:156184610
GRCh38:
Chr5:156757599
SGCDnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr5:155935727
GRCh38:
Chr5:156508717
SGCDnot specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr5:155935594
GRCh38:
Chr5:156508584
SGCDnot specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr5:156194781
GRCh38:
Chr5:156767770
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:156194511
GRCh38:
Chr5:156767500
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr5:156193997
GRCh38:
Chr5:156766986
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr5:156193960
GRCh38:
Chr5:156766949
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr5:156193908
GRCh38:
Chr5:156766897
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr5:156193701
GRCh38:
Chr5:156766690
SGCDQualitative or quantitative defects of delta-sarcoglycan, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Benign/Likely benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr5:156193699
GRCh38:
Chr5:156766688
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr5:156193632
GRCh38:
Chr5:156766621
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr5:156193234
GRCh38:
Chr5:156766223
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr5:156193118
GRCh38:
Chr5:156766107
SGCDnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan
Benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr5:156193045-156193046
GRCh38:
Chr5:156766034-156766035
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated Cardiomyopathy, Dominant, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr5:156192624
GRCh38:
Chr5:156765613
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr5:156192466
GRCh38:
Chr5:156765455
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr5:156192308
GRCh38:
Chr5:156765297
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr5:156192264
GRCh38:
Chr5:156765253
SGCDQualitative or quantitative defects of delta-sarcoglycan, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Benign
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr5:156192150
GRCh38:
Chr5:156765139
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr5:156191992
GRCh38:
Chr5:156764981
SGCDDilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr5:156191868
GRCh38:
Chr5:156764857
SGCDQualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination