Deletion | NM_206933.4(USH2A):c.3384_3417del (p.Asn1129fs) | USH2A | Pathogenic | 1 | 216373363 | 216373396 | TGACAGCTACACTCCTTGTTGAACCATGCACATTG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.3788G>A (p.Trp1263Ter) | USH2A | Pathogenic | 1 | 216372992 | 216372992 | C | T | criteria provided, single submitter | - |
Deletion | NM_206933.4(USH2A):c.5158del (p.Phe1719_Leu1720insTer) | USH2A | Pathogenic | 1 | 216258049 | 216258049 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) | USH2A | Pathogenic/Likely pathogenic | 1 | 216251674 | 216251674 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_206933.4(USH2A):c.5764C>T (p.Gln1922Ter) | USH2A | Pathogenic | 1 | 216246451 | 216246451 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter) | USH2A | Pathogenic | 1 | 216051197 | 216051197 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter) | USH2A | Pathogenic | 1 | 215987141 | 215987141 | G | A | criteria provided, single submitter | - |
Deletion | NM_206933.4(USH2A):c.10318del (p.Ile3440fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 215960081 | 215960081 | AT | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_206933.4(USH2A):c.12794del (p.Gly4265fs) | USH2A | Pathogenic | 1 | 215848459 | 215848459 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter) | USH2A | Pathogenic | 1 | 215848399 | 215848399 | C | T | criteria provided, single submitter | - |