single nucleotide variant | NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) | WFS1 | Pathogenic | 4 | 6302395 | 6302395 | C | G | criteria provided, single submitter | ClinGen:CA276989 |
single nucleotide variant | NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) | WFS1 | Pathogenic | 4 | 6303891 | 6303891 | C | A | criteria provided, single submitter | ClinGen:CA277064 |
Deletion | NM_004004.6(GJB2):c.314_329del (p.Lys105fs) | GJB2 | Pathogenic | 13 | 20763392 | 20763407 | CTCCCCCTTGATGAACT | C | criteria provided, single submitter | ClinGen:CA277273 |
single nucleotide variant | NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) | STRC | Pathogenic/Likely pathogenic | 15 | 43896218 | 43896218 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA277233 |
single nucleotide variant | NM_033109.5(PNPT1):c.2014-3C>G | PNPT1 | Likely pathogenic | 2 | 55870351 | 55870351 | G | C | criteria provided, single submitter | OMIM:610316.0011 |
single nucleotide variant | NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) | PNPT1 | Likely pathogenic | 2 | 55882077 | 55882077 | T | C | criteria provided, single submitter | ClinGen:CA320114,OMIM:610316.0016 |
single nucleotide variant | NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter) | PNPT1 | Pathogenic/Likely pathogenic | 2 | 55912087 | 55912087 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6292968 | 6292968 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA321089,UniProtKB:O76024#VAR_009109 |
single nucleotide variant | NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6293094 | 6293094 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA320894 |
Deletion | NM_006005.3(WFS1):c.1243_1245del (p.Val415del) | WFS1 | Pathogenic | 4 | 6302763 | 6302765 | TTCG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA324375,OMIM:606201.0029 |