Duplication | NM_000478.6(ALPL):c.1182dup (p.Ile395fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902409 | 21902410 | C | CT | criteria provided, multiple submitters, no conflicts | - |
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 | - |
single nucleotide variant | NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902399 | 21902399 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) | ALPL | Pathogenic/Likely pathogenic | 1 | 21904037 | 21904037 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000478.6(ALPL):c.1017dup (p.His340fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902242 | 21902243 | C | CG | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21904117 | 21904132 | TCTACCCCCTGAGCGTC | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000478.6(ALPL):c.392del (p.Ser131fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889697 | 21889697 | AG | A | 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 | - |
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.1171dup (p.Arg391fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902393 | 21902394 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA666743 |