Deletion | NM_000277.2(PAH):c.169_171delGAG | PAH | Likely pathogenic | 12 | 103288694 | 103288696 | TCTC | T | reviewed by expert panel | ClinGen:CA229461 |
single nucleotide variant | NM_000277.3(PAH):c.181A>G (p.Asn61Asp) | PAH | Pathogenic | 12 | 103288684 | 103288684 | T | C | criteria provided, single submitter | ClinGen:CA229470,UniProtKB:P00439#VAR_067995 |
single nucleotide variant | NM_000277.3(PAH):c.183C>A (p.Asn61Lys) | PAH | Pathogenic/Likely pathogenic | 12 | 103288682 | 103288682 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA267644 |
single nucleotide variant | NM_000277.3(PAH):c.183C>G (p.Asn61Lys) | PAH | Likely pathogenic | 12 | 103288682 | 103288682 | G | C | reviewed by expert panel | ClinGen:CA229471 |
Deletion | NM_000277.3(PAH):c.190del (p.His64fs) | PAH | Pathogenic | 12 | 103288675 | 103288675 | TG | T | reviewed by expert panel | ClinGen:CA229477 |
single nucleotide variant | NM_000277.3(PAH):c.193A>G (p.Ile65Val) | PAH | Pathogenic | 12 | 103288672 | 103288672 | T | C | reviewed by expert panel | ClinGen:CA229478,UniProtKB:P00439#VAR_067998 |
single nucleotide variant | NM_000277.3(PAH):c.194T>A (p.Ile65Asn) | PAH | Likely pathogenic | 12 | 103288671 | 103288671 | A | T | reviewed by expert panel | ClinGen:CA229479,UniProtKB:P00439#VAR_000882 |
single nucleotide variant | NM_000277.3(PAH):c.194T>C (p.Ile65Thr) | PAH | Pathogenic | 12 | 103288671 | 103288671 | A | G | reviewed by expert panel | ClinGen:CA251544,UniProtKB:P00439#VAR_000883,OMIM:612349.0063 |
single nucleotide variant | NM_000277.3(PAH):c.196G>T (p.Glu66Ter) | PAH | Pathogenic | 12 | 103288669 | 103288669 | C | A | reviewed by expert panel | ClinGen:CA267645 |
single nucleotide variant | NM_000277.3(PAH):c.199T>C (p.Ser67Pro) | PAH | Pathogenic | 12 | 103288666 | 103288666 | A | G | reviewed by expert panel | ClinGen:CA229481,UniProtKB:P00439#VAR_000884 |