single nucleotide variant | NM_000478.6(ALPL):c.297+2T>A | ALPL | Likely pathogenic | 1 | 21887707 | 21887707 | T | A | criteria provided, single submitter | ClinGen:CA16040715 |
Deletion | NM_000478.6(ALPL):c.522del (p.Ser175fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21890579 | 21890579 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666519 |
Duplication | NM_000478.6(ALPL):c.662dup (p.Gly222fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21894604 | 21894605 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040717 |
Deletion | NM_000478.6(ALPL):c.841del (p.His281fs) | ALPL | Likely pathogenic | 1 | 21896842 | 21896842 | AC | A | criteria provided, single submitter | ClinGen:CA16040718 |
Deletion | NM_000478.6(ALPL):c.903del (p.Asn302fs) | ALPL | Likely pathogenic | 1 | 21900197 | 21900197 | AG | A | criteria provided, single submitter | ClinGen:CA666672 |
single nucleotide variant | NM_000478.6(ALPL):c.997+2T>G | ALPL | Pathogenic | 1 | 21900294 | 21900294 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040720 |
single nucleotide variant | NM_000478.6(ALPL):c.998-2A>G | ALPL | Likely pathogenic | 1 | 21902224 | 21902224 | A | G | criteria provided, single submitter | ClinGen:CA16040721 |
single nucleotide variant | NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902372 | 21902372 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666741 |
single nucleotide variant | NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) | ALPL | Pathogenic/Likely pathogenic | 1 | 21903929 | 21903929 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666834 |
single nucleotide variant | NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) | ALPL | Likely pathogenic | 1 | 21903992 | 21903992 | G | T | criteria provided, single submitter | ClinGen:CA16040723 |