Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000478.6(ALPL):c.923C>G (p.Ser308Ter) | ALPL | Pathogenic | 1 | 21900218 | 21900218 | C | G | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_21575723)_(21575934_?)del | ALPL | Likely pathogenic | 1 | 21902216 | 21902427 | na | na | criteria provided, single submitter | - |