Deletion | NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) | OTOGL | Pathogenic/Likely pathogenic | 12 | 80632653 | 80632654 | CTA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA6700284 |
Deletion | NM_001378609.3(OTOGL):c.975del (p.Leu325fs) | OTOGL | Pathogenic/Likely pathogenic | 12 | 80633142 | 80633142 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6700335 |
single nucleotide variant | NM_001378609.3(OTOGL):c.5014C>T (p.Arg1672Ter) | OTOGL | Pathogenic | 12 | 80733008 | 80733008 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6701569 |
Deletion | NM_004004.6(GJB2):c.523_533del (p.Pro175fs) | GJB2 | Pathogenic | 13 | 20763188 | 20763198 | CACAGTGTTGGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576936 |
Deletion | NM_153700.2(STRC):c.(?_4443)_(4845_?)-68del | STRC | Pathogenic | 15 | 43892948 | 43895542 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter) | STRC | Pathogenic | 15 | 43902515 | 43902515 | G | A | criteria provided, single submitter | ClinGen:CA10576977 |
single nucleotide variant | NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) | STRC | Pathogenic | 15 | 43903435 | 43903435 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576979 |
single nucleotide variant | NM_153700.2(STRC):c.1086C>A (p.Tyr362Ter) | STRC | Pathogenic | 15 | 43908678 | 43908678 | G | T | criteria provided, single submitter | ClinGen:CA10576984 |
Indel | NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs) | OTOA | Pathogenic/Likely pathogenic | 16 | 21709102 | 21709107 | CTGCTT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577003 |
Duplication | NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) | MYO15A | Pathogenic | 17 | 18023292 | 18023293 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA8423043,ClinVar:800645 |