Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:147431116
- GRCh38:
- Chr4:146509964
| SLC10A7 | L90R | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | Uncertain significance
(Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:147431094
- GRCh38:
- Chr4:146509942
| SLC10A7 | I97M | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | Uncertain significance
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:147425114
- GRCh38:
- Chr4:146503962
| SLC10A7 | | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | Benign
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:147425009
- GRCh38:
- Chr4:146503857
| SLC10A7 | G130R, W84* | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | Pathogenic
(Mar 19, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr4:147431164
- GRCh38:
- Chr4:146510012
| SLC10A7 | L74P | not provided | Pathogenic
(Apr 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:147227080
- GRCh38:
- Chr4:146305928
| SLC10A7 | Q172*, Q185* | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | Pathogenic
(Mar 19, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr4:147425062
- GRCh38:
- Chr4:146503910
| SLC10A7 | G112D | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | Pathogenic
(Mar 19, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr4:147214148
- GRCh38:
- Chr4:146292996
| SLC10A7 | | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | Pathogenic
(Mar 19, 2019) | no assertion criteria provided |