single nucleotide variant | NM_000277.3(PAH):c.1065+3A>G | PAH | Likely pathogenic | 12 | 103238111 | 103238111 | T | C | reviewed by expert panel | ClinGen:CA212751,OMIM:612349.0060 |
single nucleotide variant | NM_000277.3(PAH):c.140C>T (p.Ala47Val) | PAH | Likely pathogenic | 12 | 103306597 | 103306597 | G | A | reviewed by expert panel | OMIM:612349.0056,ClinGen:CA114370,UniProtKB:P00439#VAR_000876 |
single nucleotide variant | NM_000277.3(PAH):c.293T>C (p.Leu98Ser) | PAH | Likely pathogenic | 12 | 103288572 | 103288572 | A | G | reviewed by expert panel | ClinGen:CA114368,UniProtKB:P00439#VAR_000891,OMIM:612349.0053 |
single nucleotide variant | NM_000277.3(PAH):c.731C>T (p.Pro244Leu) | PAH | Likely pathogenic | 12 | 103246704 | 103246704 | G | A | reviewed by expert panel | UniProtKB:P00439#VAR_000948,OMIM:612349.0047,ClinGen:CA229721 |
Deletion | NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) | PAH | Likely pathogenic | 12 | 103237517 | 103237531 | CAGCTCCAGGGGGAGA | C | reviewed by expert panel | ClinGen:CA229339,OMIM:612349.0046 |
single nucleotide variant | NM_000277.3(PAH):c.965C>G (p.Ala322Gly) | PAH | Likely pathogenic | 12 | 103240677 | 103240677 | G | C | reviewed by expert panel | ClinGen:CA114363,UniProtKB:P00439#VAR_000998,OMIM:612349.0042 |
single nucleotide variant | NM_000277.3(PAH):c.662A>G (p.Glu221Gly) | PAH | Likely pathogenic | 12 | 103248958 | 103248958 | T | C | reviewed by expert panel | ClinGen:CA229677,UniProtKB:P00439#VAR_000933,OMIM:612349.0035 |
single nucleotide variant | NM_000277.3(PAH):c.818C>T (p.Ser273Phe) | PAH | Likely pathogenic | 12 | 103246617 | 103246617 | G | A | reviewed by expert panel | UniProtKB:P00439#VAR_000973,OMIM:612349.0023,ClinGen:CA229785 |
Deletion | NM_000277.3(PAH):c.1092_1094del (p.Leu365del) | PAH | Likely pathogenic | 12 | 103237529 | 103237531 | GAGA | G | reviewed by expert panel | ClinGen:CA229337,OMIM:612349.0021 |
single nucleotide variant | NM_000277.3(PAH):c.842C>T (p.Pro281Leu) | PAH | Likely pathogenic | 12 | 103246593 | 103246593 | G | A | reviewed by expert panel | ClinGen:CA220589,UniProtKB:P00439#VAR_000981,OMIM:612349.0012 |