Deletion | NM_182916.3(TRNT1):c.865del (p.Ser289fs) | TRNT1 | Pathogenic | 3 | 3189192 | 3189192 | GT | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001142800.2(EYS):c.9036del (p.Leu3013fs) | EYS | Pathogenic | 6 | 64430891 | 64430891 | GA | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001142800.2(EYS):c.6791dup (p.Pro2265fs) | EYS | Pathogenic | 6 | 64709010 | 64709011 | A | AG | criteria provided, single submitter | - |
Deletion | NM_001142800.2(EYS):c.6102del (p.Phe2034fs) | EYS | Pathogenic | 6 | 65016952 | 65016952 | TA | T | criteria provided, single submitter | - |
Insertion | NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs) | EYS | Pathogenic | 6 | 65301643 | 65301644 | T | TGC | criteria provided, single submitter | - |
single nucleotide variant | NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) | EYS | Pathogenic | 6 | 65655687 | 65655687 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter) | EYS | Pathogenic | 6 | 66063384 | 66063384 | G | A | criteria provided, single submitter | - |
Deletion | NM_001142800.2(EYS):c.361del (p.Glu121fs) | EYS | Pathogenic | 6 | 66204943 | 66204943 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) | HGSNAT | Pathogenic | 8 | 43002136 | 43002136 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) | RDH12 | Pathogenic | 14 | 68193730 | 68193730 | C | T | criteria provided, single submitter | - |