Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:10538727
- GRCh38:
- Chr17:10635410
| MYH3 | E1377Q | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Arthrogryposis, distal, type 1A, Distal arthrogryposis type 2B1,
not provided | Uncertain significance
(Jun 6, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:35682107
- GRCh38:
- Chr9:35682110
| TPM2 | Q276E | Arthrogryposis, distal, type 1A, Nemaline myopathy 4, Distal arthrogryposis type 2B1
| Uncertain significance
(Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:10535923
- GRCh38:
- Chr17:10632606
| MYH3 | R1609K | Distal arthrogryposis type 2B1 | Uncertain significance
(May 3, 2020) | criteria provided, single submitter |