single nucleotide variant | NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) | PAH | Pathogenic/Likely pathogenic | 12 | 103234192 | 103234192 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA229427 |
Duplication | NM_000277.3(PAH):c.1298dup (p.Leu433fs) | PAH | Likely pathogenic | 12 | 103234194 | 103234195 | C | CA | criteria provided, single submitter | ClinGen:CA16041557 |
Deletion | NM_000277.3(PAH):c.1293_1294del (p.Lys431fs) | PAH | Likely pathogenic | 12 | 103234199 | 103234200 | ATC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000277.3(PAH):c.1289T>C (p.Leu430Pro) | PAH | Likely pathogenic | 12 | 103234204 | 103234204 | A | G | reviewed by expert panel | ClinGen:CA229426,UniProtKB:P00439#VAR_001041 |
single nucleotide variant | NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) | PAH | Likely pathogenic | 12 | 103234208 | 103234208 | G | T | reviewed by expert panel | - |
single nucleotide variant | NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) | PAH | Likely pathogenic | 12 | 103234211 | 103234211 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041558 |
single nucleotide variant | NM_000277.3(PAH):c.1262T>C (p.Ile421Thr) | PAH | Likely pathogenic | 12 | 103234231 | 103234231 | A | G | reviewed by expert panel | ClinGen:CA229420 |
single nucleotide variant | NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) | PAH | Likely pathogenic | 12 | 103234231 | 103234231 | A | C | reviewed by expert panel | - |
single nucleotide variant | NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) | PAH | Pathogenic | 12 | 103234237 | 103234237 | T | C | reviewed by expert panel | - |
single nucleotide variant | NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) | PAH | Pathogenic | 12 | 103234241 | 103234241 | T | G | reviewed by expert panel | ClinGen:CA229418,UniProtKB:P00439#VAR_001040 |