single nucleotide variant | NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) | ALPL | Pathogenic/Likely pathogenic | 1 | 21903075 | 21903075 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA199266,UniProtKB:P05186#VAR_025937,OMIM:171760.0017 |
single nucleotide variant | NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889651 | 21889651 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA123348,UniProtKB:P05186#VAR_013977,OMIM:171760.0015 |
single nucleotide variant | NM_000478.6(ALPL):c.407G>A (p.Arg136His) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889712 | 21889712 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256932,UniProtKB:P05186#VAR_006152,OMIM:171760.0013 |
single nucleotide variant | NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) | ALPL | Pathogenic/Likely pathogenic | 1 | 21900274 | 21900274 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA256930,UniProtKB:P05186#VAR_006165,OMIM:171760.0011 |
single nucleotide variant | NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902229 | 21902229 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256929,UniProtKB:P05186#VAR_006166,OMIM:171760.0010 |
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.892G>A (p.Glu298Lys) | ALPL | Pathogenic/Likely pathogenic | 1 | 21900187 | 21900187 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256926,UniProtKB:P05186#VAR_025928,OMIM:171760.0020 |
single nucleotide variant | NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) | ALPL | Pathogenic/Likely pathogenic | 1 | 21887619 | 21887619 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA256920,UniProtKB:P05186#VAR_006149,OMIM:171760.0002 |
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.923C>G (p.Ser308Ter) | ALPL | Pathogenic | 1 | 21900218 | 21900218 | C | G | criteria provided, single submitter | - |