Deletion | NM_000541.5(SAG):c.926del (p.Asn309fs) | SAG | Pathogenic | 2 | 234243725 | 234243725 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA122802,OMIM:181031.0001 |
single nucleotide variant | NM_000541.5(SAG):c.916G>T (p.Glu306Ter) | SAG | Pathogenic | 2 | 234243717 | 234243717 | G | T | criteria provided, single submitter | ClinGen:CA130899,OMIM:181031.0005 |
single nucleotide variant | NM_000541.5(SAG):c.874C>T (p.Arg292Ter) | SAG | Pathogenic | 2 | 234243675 | 234243675 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA130897,OMIM:181031.0004 |
single nucleotide variant | NM_000541.5(SAG):c.577C>T (p.Arg193Ter) | SAG | Pathogenic | 2 | 234237188 | 234237188 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA130895,OMIM:181031.0002 |
single nucleotide variant | NM_000541.5(SAG):c.523C>T (p.Arg175Ter) | SAG | Pathogenic | 2 | 234237134 | 234237134 | C | T | criteria provided, single submitter | ClinGen:CA150740,OMIM:181031.0006 |
single nucleotide variant | NM_000541.5(SAG):c.136+2T>G | SAG | Pathogenic/Likely pathogenic | 2 | 234224783 | 234224783 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA351043938 |
single nucleotide variant | NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216595636 | 216595636 | G | A | criteria provided, multiple submitters, no conflicts | - |
Insertion | NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) | USH2A | Pathogenic | 1 | 216595579 | 216595580 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA37922153 |
single nucleotide variant | NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216595579 | 216595579 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA1396855 |
single nucleotide variant | NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) | USH2A | Pathogenic | 1 | 216595492 | 216595492 | G | A | criteria provided, multiple submitters, no conflicts | - |