Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000012.12:g.(?_102855126)_(102855342_?)del | PAH | Pathogenic | 12 | 103248904 | 103249120 | na | na | criteria provided, single submitter | - |
Deletion | NM_000277.3(PAH):c.1066-10_1070del | PAH | Likely pathogenic | 12 | 103237553 | 103237567 | GCAGTACTGTAGGCCC | G | criteria provided, single submitter | - |
Deletion | NC_000012.12:g.(?_102917061)_(102917140_?)del | PAH | Pathogenic | 12 | 103310839 | 103310918 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000277.3(PAH):c.223G>A (p.Asp75Asn) | PAH | Likely pathogenic | 12 | 103288642 | 103288642 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000277.3(PAH):c.516G>T (p.Gln172His) | PAH | Likely pathogenic | 12 | 103249104 | 103249104 | C | A | reviewed by expert panel | - |
single nucleotide variant | NM_000277.3(PAH):c.799C>T (p.Gln267Ter) | PAH | Pathogenic | 12 | 103246636 | 103246636 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) | PAH | Likely pathogenic | 12 | 103237500 | 103237500 | G | C | reviewed by expert panel | - |
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.1316-1G>A | PAH | Pathogenic | 12 | 103232997 | 103232997 | C | T | reviewed by expert panel | - |
Deletion | NM_000277.3(PAH):c.346_347del (p.Asp116fs) | PAH | Pathogenic | 12 | 103288518 | 103288519 | GTC | G | reviewed by expert panel | - |