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 |
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 |
single nucleotide variant | NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) | ALPL | Pathogenic/Likely pathogenic | 1 | 21887187 | 21887187 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040714 |
Deletion | NM_000478.6(ALPL):c.129del (p.Gln44fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21887185 | 21887185 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA666403 |
Deletion | NM_000478.6(ALPL):c.114del (p.Lys38fs) | ALPL | Likely pathogenic | 1 | 21887169 | 21887169 | GA | G | criteria provided, single submitter | ClinGen:CA16040713 |
single nucleotide variant | NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) | ALPL | Pathogenic/Likely pathogenic | 1 | 21887145 | 21887145 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040712 |
single nucleotide variant | NM_000478.6(ALPL):c.61+2T>G | ALPL | Likely pathogenic | 1 | 21880637 | 21880637 | T | G | criteria provided, single submitter | ClinGen:CA666363 |
Deletion | NM_000478.6(ALPL):c.46_49del (p.Asn16fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21880617 | 21880620 | TACTA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040711 |
single nucleotide variant | NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) | ALPL | Pathogenic/Likely pathogenic | 1 | 21900186 | 21900186 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274381 |
single nucleotide variant | NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) | ALPL | Pathogenic/Likely pathogenic | 1 | 21900166 | 21900166 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273965,UniProtKB:P05186#VAR_013989 |