Deletion | NM_000478.6(ALPL):c.18del (p.Val7fs) | ALPL | Pathogenic | 1 | 21880592 | 21880592 | TA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) | ALPL | Likely pathogenic | 1 | 21887144 | 21887144 | G | A | criteria provided, single submitter | - |
Duplication | NM_001177520.3(ALPL):c.66+353dup | ALPL | Pathogenic/Likely pathogenic | 1 | 21887588 | 21887589 | A | AG | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000478.6(ALPL):c.225_228dup (p.Leu77fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21887631 | 21887632 | G | GGTCA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000478.6(ALPL):c.862+1G>A | ALPL | Likely pathogenic | 1 | 21896868 | 21896868 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter) | ALPL | Likely pathogenic | 1 | 21902267 | 21902267 | C | T | criteria provided, single submitter | - |
Deletion | NM_000478.6(ALPL):c.427del (p.Gln143fs) | ALPL | Likely pathogenic | 1 | 21889730 | 21889730 | AC | A | criteria provided, single submitter | - |
Deletion | NM_000478.6(ALPL):c.392del (p.Ser131fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889697 | 21889697 | AG | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs) | ALPL | Likely pathogenic | 1 | 21903038 | 21903041 | CACAG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter) | ALPL | Likely pathogenic | 1 | 21903890 | 21903890 | C | T | criteria provided, single submitter | - |