single nucleotide variant | NM_000277.3(PAH):c.1249T>C (p.Tyr417His) | PAH | Pathogenic | 12 | 103234244 | 103234244 | A | G | criteria provided, single submitter | ClinGen:CA229417,UniProtKB:P00439#VAR_068008 |
single nucleotide variant | NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) | PAH | Likely pathogenic | 12 | 103234246 | 103234246 | G | T | reviewed by expert panel | - |
single nucleotide variant | NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) | PAH | Pathogenic | 12 | 103234250 | 103234250 | C | T | reviewed by expert panel | OMIM:612349.0043,ClinGen:CA114364,UniProtKB:P00439#VAR_001039 |
single nucleotide variant | NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) | PAH | Pathogenic | 12 | 103234252 | 103234252 | T | C | reviewed by expert panel | ClinGen:CA114362,UniProtKB:P00439#VAR_001038,OMIM:612349.0017 |
single nucleotide variant | NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) | PAH | Pathogenic | 12 | 103234255 | 103234255 | C | G | reviewed by expert panel | ClinGen:CA229414,UniProtKB:P00439#VAR_001036,OMIM:612349.0016 |
single nucleotide variant | NM_000277.3(PAH):c.1237C>A (p.Arg413Ser) | PAH | Pathogenic | 12 | 103234256 | 103234256 | G | T | criteria provided, single submitter | ClinGen:CA229411,UniProtKB:P00439#VAR_001037 |
single nucleotide variant | NM_000277.3(PAH):c.1232C>A (p.Ser411Ter) | PAH | Likely pathogenic | 12 | 103234261 | 103234261 | G | T | reviewed by expert panel | ClinGen:CA229409 |
single nucleotide variant | NM_000277.3(PAH):c.1229T>G (p.Phe410Cys) | PAH | Likely pathogenic | 12 | 103234264 | 103234264 | A | C | reviewed by expert panel | ClinGen:CA229406 |
single nucleotide variant | NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) | PAH | Pathogenic | 12 | 103234270 | 103234270 | C | T | reviewed by expert panel | UniProtKB:P00439#VAR_001034,OMIM:612349.0038,ClinGen:CA229404 |
single nucleotide variant | NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) | PAH | Pathogenic | 12 | 103234271 | 103234271 | G | A | reviewed by expert panel | UniProtKB:P00439#VAR_001035,OMIM:612349.0002,ClinGen:CA251523 |