| - GRCh37:
- Chr14:105196253
- GRCh38:
- Chr14:104729916
| ADSS1 | A9fs | Myopathy, distal, 5 | Likely pathogenic
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105213330
- GRCh38:
- Chr14:104746993
| ADSS1 | Q250L, Q455L, Q498L | Myopathy, distal, 5 | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105201365
- GRCh38:
- Chr14:104735028
| ADSS1 | N110K, N67K | Myopathy, distal, 5 | Uncertain significance
(Mar 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105205715
- GRCh38:
- Chr14:104739378
| ADSS1 | V137L, V180L | Myopathy, distal, 5 | Uncertain significance
(Jun 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105207009
- GRCh38:
- Chr14:104740672
| ADSS1 | C183F, C226F | Myopathy, distal, 5 | Uncertain significance
(Sep 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105212624
- GRCh38:
- Chr14:104746287
| ADSS1 | G203E, G408E, G451E | Myopathy, distal, 5 | Uncertain significance
(Oct 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105208214
- GRCh38:
- Chr14:104741877
| ADSS1 | C275G, C318G, C70G | Myopathy, distal, 5 | Uncertain significance
(Aug 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105196363
- GRCh38:
- Chr14:104730026
| ADSS1 | Q45P | Myopathy, distal, 5 | Uncertain significance
(Mar 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105212666
- GRCh38:
- Chr14:104746329
| ADSS1 | L217Q, L422Q, L465Q | Myopathy, distal, 5 | Uncertain significance
(Feb 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105196320
- GRCh38:
- Chr14:104729983
| ADSS1 | A31S | not provided, Myopathy, distal, 5 | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105212692
- GRCh38:
- Chr14:104746355
| ADSS1 | R226C, R431C, R474C | Myopathy, distal, 5, not provided | Uncertain significance
(Nov 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105208302
- GRCh38:
- Chr14:104741965
| ADSS1 | R304H, R347H, R99H | Myopathy, distal, 5, not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105208271
- GRCh38:
- Chr14:104741934
| ADSS1 | V294M, V337M, V89M | Myopathy, distal, 5, not provided | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105207496
- GRCh38:
- Chr14:104741159
| ADSS1 | Y237H, Y280H, Y32H | Myopathy, distal, 5, not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105207470
- GRCh38:
- Chr14:104741133
| ADSS1 | I228T, I23T, I271T | Myopathy, distal, 5, not provided | Uncertain significance
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105205678
- GRCh38:
- Chr14:104739341
| ADSS1 | W124C, W167C | Myopathy, distal, 5, not provided | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:105196369
- GRCh38:
- Chr14:104730032
| ADSS1 | L47Q | Myopathy, distal, 5, not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105213343
- GRCh38:
- Chr14:104747006
| ADSS1 | | Myopathy, distal, 5 | Benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105207134
- GRCh38:
- Chr14:104740797
| ADSS1 | | Myopathy, distal, 5 | Benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105207040
- GRCh38:
- Chr14:104740703
| ADSS1 | | Myopathy, distal, 5, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105196365
- GRCh38:
- Chr14:104730028
| ADSS1 | | Myopathy, distal, 5, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105196235
- GRCh38:
- Chr14:104729898
| ADSS1 | | Myopathy, distal, 5, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105201355
- GRCh38:
- Chr14:104735018
| ADSS1 | | not provided, Myopathy, distal, 5 | Likely pathogenic
(Dec 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105208183
- GRCh38:
- Chr14:104741846
| ADSS1 | | not provided, Myopathy, distal, 5 | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:105207537
- GRCh38:
- Chr14:104741200
| ADSS1 | I45M, I250M, I293M | Myopathy, distal, 5 | Uncertain significance
(Nov 17, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105207556
- GRCh38:
- Chr14:104741219
| ADSS1 | A300T, A257T, A52T | not provided | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105211166
- GRCh38:
- Chr14:104744829
| ADSS1 | L407P, L159P, L364P | Myopathy, distal, 5 | Pathogenic
(Nov 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr14:105207522
- GRCh38:
- Chr14:104741185
| ADSS1 | K291fs, K248fs, K43fs | Myopathy, distal, 5, not provided, Fetal akinesia deformation sequence 1,
Arthrogryposis multiplex congenita | Pathogenic/Likely pathogenic
(Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105190637-105190638
- GRCh38:
- Chr14:104724300-104724301
| ADSS1 | G13fs | Myopathy, distal, 5 | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:105208310
- GRCh38:
- Chr14:104741973
| ADSS1 | I307fs, I102fs, I350fs | Myopathy, distal, 5, not provided | Pathogenic
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:105207568
- GRCh38:
- Chr14:104741231
| ADSS1 | D304N, D261N, D56N | Myopathy, distal, 5, not provided | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |