Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000277.3(PAH):c.165T>G (p.Phe55Leu) | PAH | Pathogenic/Likely pathogenic | 12 | 103306572 | 103306572 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA273114,UniProtKB:P00439#VAR_000879 |
Deletion | NM_000277.3(PAH):c.165del (p.Phe55fs) | PAH | Pathogenic | 12 | 103306572 | 103306572 | CA | C | reviewed by expert panel | ClinGen:CA251540,OMIM:612349.0037 |
single nucleotide variant | NM_000277.3(PAH):c.168G>T (p.Glu56Asp) | PAH | Pathogenic | 12 | 103306569 | 103306569 | C | A | reviewed by expert panel | ClinGen:CA229459,UniProtKB:P00439#VAR_000880 |
Indel | NM_000277.3(PAH):c.168_168+1delinsAA | PAH | Likely pathogenic | 12 | 103306568 | 103306569 | CC | TT | reviewed by expert panel | ClinGen:CA273936 |
single nucleotide variant | NM_000277.3(PAH):c.168+1G>A | PAH | Pathogenic | 12 | 103306568 | 103306568 | C | T | reviewed by expert panel | ClinGen:CA229452 |
single nucleotide variant | NM_000277.3(PAH):c.168+5G>C | PAH | Pathogenic | 12 | 103306564 | 103306564 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA229454 |
single nucleotide variant | NM_000277.3(PAH):c.168+5G>A | PAH | Likely pathogenic | 12 | 103306564 | 103306564 | C | T | reviewed by expert panel | ClinGen:CA229453 |
single nucleotide variant | NM_000277.3(PAH):c.169-13T>G | PAH | Likely pathogenic | 12 | 103288709 | 103288709 | A | C | reviewed by expert panel | ClinGen:CA229460 |
single nucleotide variant | NM_000277.3(PAH):c.169-2A>G | PAH | Pathogenic | 12 | 103288698 | 103288698 | T | C | reviewed by expert panel | - |
single nucleotide variant | NM_000277.3(PAH):c.169G>T (p.Glu57Ter) | PAH | Pathogenic | 12 | 103288696 | 103288696 | C | A | reviewed by expert panel | ClinGen:CA267642 |