single nucleotide variant | NM_000117.3(EMD):c.1A>G (p.Met1Val) | EMD | Pathogenic | X | 153607845 | 153607845 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA121381,OMIM:300384.0002 |
single nucleotide variant | NM_000117.3(EMD):c.130C>T (p.Gln44Ter) | EMD | Pathogenic | X | 153608097 | 153608097 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA121384,OMIM:300384.0006 |
single nucleotide variant | NM_000117.3(EMD):c.548C>A (p.Pro183His) | EMD | Pathogenic | X | 153609340 | 153609340 | C | A | criteria provided, single submitter | ClinGen:CA121387,UniProtKB:P50402#VAR_005199,OMIM:300384.0008 |
Insertion | NM_000117.3(EMD):c.239_240insT (p.Glu80fs) | EMD | Pathogenic | X | 153608353 | 153608354 | A | AT | criteria provided, single submitter | ClinGen:CA220361 |
Deletion | NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del) | EMD | Likely pathogenic | X | 153608607 | 153608621 | ACTACTATGAAGAGAG | A | criteria provided, single submitter | ClinGen:CA220362 |
single nucleotide variant | NM_000117.3(EMD):c.355C>T (p.Gln119Ter) | EMD | Pathogenic | X | 153608683 | 153608683 | C | T | criteria provided, single submitter | ClinGen:CA220365 |
single nucleotide variant | NM_000117.3(EMD):c.450-2A>G | EMD | Pathogenic/Likely pathogenic | X | 153609240 | 153609240 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA220368 |
single nucleotide variant | NM_000117.3(EMD):c.266-2A>G | EMD | Pathogenic | X | 153608592 | 153608592 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA273149 |
single nucleotide variant | NM_000117.3(EMD):c.83-2A>G | EMD | Likely pathogenic | X | 153608048 | 153608048 | A | G | criteria provided, single submitter | ClinGen:CA273634 |
single nucleotide variant | NM_000117.3(EMD):c.187+1G>T | EMD | Pathogenic | X | 153608155 | 153608155 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA335148 |