single nucleotide variant | NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) | ALPL | Pathogenic | 1 | 21894616 | 21894616 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666577 |
single nucleotide variant | NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) | ALPL | Pathogenic/Likely pathogenic | 1 | 21894615 | 21894615 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274235,UniProtKB:P05186#VAR_013986 |
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 |
single nucleotide variant | NM_000478.6(ALPL):c.648+1G>A | ALPL | Pathogenic | 1 | 21890710 | 21890710 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA212949,OMIM:171760.0016 |
single nucleotide variant | NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) | ALPL | Pathogenic/Likely pathogenic | 1 | 21890632 | 21890632 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256927,UniProtKB:P05186#VAR_006158,OMIM:171760.0008 |
single nucleotide variant | NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) | ALPL | Pathogenic/Likely pathogenic | 1 | 21890603 | 21890603 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273974,UniProtKB:P05186#VAR_013982 |
single nucleotide variant | NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) | ALPL | Pathogenic/Likely pathogenic | 1 | 21890596 | 21890596 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256919,UniProtKB:P05186#VAR_006156,OMIM:171760.0001 |
single nucleotide variant | NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) | ALPL | Pathogenic/Likely pathogenic | 1 | 21890587 | 21890587 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256935,UniProtKB:P05186#VAR_011083,OMIM:171760.0022 |
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 |
Deletion | NM_000478.6(ALPL):c.427del (p.Gln143fs) | ALPL | Likely pathogenic | 1 | 21889730 | 21889730 | AC | A | criteria provided, single submitter | - |