Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000009.12:g.(?_95101697)_(95508371_?)del | PTCH1 | Pathogenic | 9 | 97863979 | 98270653 | na | na | criteria provided, single submitter | - |