| - GRCh37:
- Chr5:155935622
- GRCh38:
- Chr5:156508612
| SGCD | | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771592
- GRCh38:
- Chr5:156344582
| SGCD | R33*, 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 |
| - GRCh37:
- Chr5:156074505
- GRCh38:
- Chr5:156647495
| SGCD | I177M, I178M | 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 |
| - GRCh37:
- Chr5:156186289
- GRCh38:
- Chr5:156759278
| SGCD | T253K, T254K | Autosomal 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 |
| - GRCh37:
- Chr5:155771526
- GRCh38:
- Chr5:156344516
| SGCD | R11W, R10W | not 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 |
| - GRCh37:
- Chr5:156186277
- GRCh38:
- Chr5:156759266
| SGCD | S249F, S250F | 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 |
| - GRCh37:
- Chr5:156016283
- GRCh38:
- Chr5:156589273
| SGCD | N112H, N113H | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771600
- GRCh38:
- Chr5:156344590
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Inborn genetic diseases
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156016309
- GRCh38:
- Chr5:156589299
| SGCD | | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186326
- GRCh38:
- Chr5:156759315
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Inborn genetic diseases
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156022006
- GRCh38:
- Chr5:156594996
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186311
- GRCh38:
- Chr5:156759300
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155935692
- GRCh38:
- Chr5:156508682
| SGCD | K91Q, K92Q | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Cardiomyopathy
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156184602
- GRCh38:
- Chr5:156757591
| SGCD | P195T, P196T | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156184632
- GRCh38:
- Chr5:156757621
| SGCD | K205E, K206E | 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 |
| - GRCh37:
- Chr5:156074482
- GRCh38:
- Chr5:156647472
| SGCD | G170S, G171S | Autosomal 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 |
| - GRCh37:
- Chr5:156016244
- GRCh38:
- Chr5:156589234
| SGCD | N100H, N99H | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156022011
- GRCh38:
- Chr5:156595001
| SGCD | S151F, S150F | not 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 |
| - GRCh37:
- Chr5:156191336
- GRCh38:
- Chr5:156764325
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156189215
- GRCh38:
- Chr5:156762204
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156189198
- GRCh38:
- Chr5:156762187
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156187448
- GRCh38:
- Chr5:156760437
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156193967
- GRCh38:
- Chr5:156766956
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156192587
- GRCh38:
- Chr5:156765576
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156192528
- GRCh38:
- Chr5:156765517
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156192285
- GRCh38:
- Chr5:156765274
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156194757
- GRCh38:
- Chr5:156767746
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156192220
- GRCh38:
- Chr5:156765209
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156188540
- GRCh38:
- Chr5:156761529
| SGCD | | 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, Dilated cardiomyopathy 1L | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156188391
- GRCh38:
- Chr5:156761380
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156188308
- GRCh38:
- Chr5:156761297
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156188307
- GRCh38:
- Chr5:156761296
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156186841
- GRCh38:
- Chr5:156759830
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156193065
- GRCh38:
- Chr5:156766054
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156192919
- GRCh38:
- Chr5:156765908
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156189981
- GRCh38:
- Chr5:156762970
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:155935710
- GRCh38:
- Chr5:156508700
| SGCD | P97S, P98S | Autosomal 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 |
| - GRCh37:
- Chr5:155771648
- GRCh38:
- Chr5:156344638
| SGCD | | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156184646
- GRCh38:
- Chr5:156757635
| SGCD | | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Benign/Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156074509
- GRCh38:
- Chr5:156647499
| SGCD | T179S, T180S | Primary 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 |
| - GRCh37:
- Chr5:155771520
- GRCh38:
- Chr5:156344510
| SGCD | H8Y, H9Y | not 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 |
| - GRCh37:
- Chr5:156184658
- GRCh38:
- Chr5:156757647
| SGCD | | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186327
- GRCh38:
- Chr5:156759316
| SGCD | A267T, A266T | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771586
- GRCh38:
- Chr5:156344576
| SGCD | R30W, R31W | Autosomal 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 |
| - GRCh37:
- Chr5:156186360
- GRCh38:
- Chr5:156759349
| SGCD | A278S, A277S | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156016298
- GRCh38:
- Chr5:156589288
| SGCD | Q118K, Q117K | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156016304
- GRCh38:
- Chr5:156589294
| SGCD | K120E, K119E | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156184609
- GRCh38:
- Chr5:156757598
| SGCD | R198Q, R197Q | 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 |
| - GRCh37:
- Chr5:156016286
- GRCh38:
- Chr5:156589276
| SGCD | I114V, I113V | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186300
- GRCh38:
- Chr5:156759289
| SGCD | Q258*, Q257* | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(May 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156184716
- GRCh38:
- Chr5:156757705
| SGCD | V234L | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic
(May 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754146-155754147
- GRCh38:
- Chr5:156327136-156327137
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L | Uncertain significance
(Apr 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156021903-156021923
- GRCh38:
- Chr5:156594893-156594913
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Apr 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156186301-156186303
- GRCh38:
- Chr5:156759290-156759292
| SGCD | K259del, K258del | 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 |
| - GRCh37:
- Chr5:155756590
- GRCh38:
- Chr5:156329580
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754243
- GRCh38:
- Chr5:156327233
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156184631
- GRCh38:
- Chr5:156757620
| SGCD | G206fs, G207fs | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic
(Mar 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156184679
- GRCh38:
- Chr5:156757668
| SGCD | C221*, 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 |
| - GRCh37:
- Chr5:155754244
- GRCh38:
- Chr5:156327234
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Feb 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756591
- GRCh38:
- Chr5:156329581
| SGCD | | 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 |
| - GRCh37:
- Chr5:155753656-155753667
- GRCh38:
- Chr5:156326647-156326657
| SGCD | | not 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 |
| - GRCh37:
- Chr5:155754242-155754243
- GRCh38:
- Chr5:156327232-156327233
| SGCD | | 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 |
| - GRCh37:
- Chr5:155754244
- GRCh38:
- Chr5:156327234
| SGCD | | 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 |
| - GRCh37:
- Chr5:155771564
- GRCh38:
- Chr5:156344554
| SGCD | Y23*, Y22* | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754243
- GRCh38:
- Chr5:156327233
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Jun 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156021894-156021895
- GRCh38:
- Chr5:156594884-156594885
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign
(Jun 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771688
- GRCh38:
- Chr5:156344678
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156021907-156021908
- GRCh38:
- Chr5:156594897-156594898
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign
(Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756587
- GRCh38:
- Chr5:156329577
| SGCD | M1V | 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 |
| - GRCh37:
- Chr5:155771593
- GRCh38:
- Chr5:156344583
| SGCD | R33Q, R32Q | not 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 |
| - GRCh37:
- Chr5:155771498
- GRCh38:
- Chr5:156344488
| SGCD | | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:156186314
- GRCh38:
- Chr5:156759303
| SGCD | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156016201
- GRCh38:
- Chr5:156589191
| SGCD | | not specified, not provided, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F | Benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186345
- GRCh38:
- Chr5:156759334
| SGCD | | Inborn 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 |
| - GRCh37:
- Chr5:156021993
- GRCh38:
- Chr5:156594983
| SGCD | S145C, S144C | Autosomal 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 |
| - GRCh37:
- Chr5:156016300
- GRCh38:
- Chr5:156589290
| SGCD | Q118H, Q117H | not 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 |
| - GRCh37:
- Chr5:156074537
- GRCh38:
- Chr5:156647527
| SGCD | K189R, K188R | Inborn 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 |
| - GRCh37:
- Chr5:156074530
- GRCh38:
- Chr5:156647520
| SGCD | P187S, P186S | 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 |
| - GRCh37:
- Chr5:156022017
- GRCh38:
- Chr5:156595007
| SGCD | D153G, D152G | not 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 |
| - GRCh37:
- Chr5:156184610
- GRCh38:
- Chr5:156757599
| SGCD | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155935727
- GRCh38:
- Chr5:156508717
| SGCD | | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155935594
- GRCh38:
- Chr5:156508584
| SGCD | | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156194781
- GRCh38:
- Chr5:156767770
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156194511
- GRCh38:
- Chr5:156767500
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193997
- GRCh38:
- Chr5:156766986
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156193960
- GRCh38:
- Chr5:156766949
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193908
- GRCh38:
- Chr5:156766897
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156193701
- GRCh38:
- Chr5:156766690
| SGCD | | 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 |
| - GRCh37:
- Chr5:156193699
- GRCh38:
- Chr5:156766688
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193632
- GRCh38:
- Chr5:156766621
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193234
- GRCh38:
- Chr5:156766223
| SGCD | | Dilated 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 |
| - GRCh37:
- Chr5:156193118
- GRCh38:
- Chr5:156766107
| SGCD | | not 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 |
| - GRCh37:
- Chr5:156193045-156193046
- GRCh38:
- Chr5:156766034-156766035
| SGCD | | 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, Dilated Cardiomyopathy, Dominant, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192624
- GRCh38:
- Chr5:156765613
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192466
- GRCh38:
- Chr5:156765455
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192308
- GRCh38:
- Chr5:156765297
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192264
- GRCh38:
- Chr5:156765253
| SGCD | | 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
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192150
- GRCh38:
- Chr5:156765139
| SGCD | | Qualitative 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 |
| - GRCh37:
- Chr5:156191992
- GRCh38:
- Chr5:156764981
| SGCD | | 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, Dilated cardiomyopathy 1L, Limb-Girdle Muscular Dystrophy, Recessive
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156191868
- GRCh38:
- Chr5:156764857
| SGCD | | Qualitative 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 |