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.1142A>G (p.His381Arg) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902370 | 21902370 | A | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000478.6(ALPL):c.1182dup (p.Ile395fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902409 | 21902410 | C | CT | criteria provided, multiple submitters, no conflicts | - |