| - GRCh37:
- Chr7:107880480-107880483
- GRCh38:
- Chr7:108240036-108240039
| NRCAM | K9fs | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | Likely pathogenic
(Apr 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107866783
- GRCh38:
- Chr7:108226339
| NRCAM | G101D, G191D, G197D | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder | Pathogenic
(Apr 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:107820780
- GRCh38:
- Chr7:108180336
| NRCAM | G594D, G798D, G807D, G878D, G894D, G896D, G897D, G903D, G907D, G912D, G913D | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder | Pathogenic
(Apr 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:107836262
- GRCh38:
- Chr7:108195818
| NRCAM | N160S, N354S, N373S, N444S, N450S, N462S, N463S, N468S, N469S | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder | Pathogenic
(Apr 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:107872866
- GRCh38:
- Chr7:108232422
| NRCAM | E105*, E111*, E15* | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder | Pathogenic
(Apr 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:107820733
- GRCh38:
- Chr7:108180289
| NRCAM | R610*, R814*, R823*, R894*, R910*, R912*, R913*, R919*, R923*, R928*, R929* | Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, NRCAM-related disorder | Pathogenic
(Apr 25, 2022) | no assertion criteria provided |