Links from MedGen
Items: 9
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:170347296
- GRCh38:
- Chr4:169426145
| NEK1 | | Asphyxiating thoracic dystrophy 1 | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:170322976
- GRCh38:
- Chr4:169401825
| NEK1 | L1137P, L1040P, L1109P, L1093P, L1065P, L1092P, L976P | Asphyxiating thoracic dystrophy 1 | Uncertain significance
(Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984931
- GRCh38:
- Chr11:103114202
| DYNC2H1 | L156I | Jeune thoracic dystrophy | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:1569962-1569967
- GRCh38:
- Chr16:1519961-1519966
| IFT140 | | Saldino-Mainzer syndrome | Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:44032388
- GRCh38:
- Chr2:43805249
| DYNC2LI1 | | Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactyly | Pathogenic
(Jun 16, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr2:44036850
- GRCh38:
- Chr2:43809711
| ABCG5, DYNC2LI1 | E334*, E335* | Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactyly | Pathogenic
(Jun 16, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr2:44021647
- GRCh38:
- Chr2:43794508
| DYNC2LI1 | W124* | not provided | Pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44021624
- GRCh38:
- Chr2:43794485
| DYNC2LI1 | L117V | not provided | Pathogenic
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:44032386
- GRCh38:
- Chr2:43805247
| DYNC2LI1 | | not provided | Pathogenic
(Dec 8, 2021) | criteria provided, single submitter |