single nucleotide variant | NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) | TNFRSF13B | Pathogenic/Likely pathogenic | 17 | 16852186 | 16852186 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) | TNFRSF13B | Pathogenic | 17 | 16852066 | 16852066 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA8414017 |
single nucleotide variant | NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter) | TNFRSF13B | Pathogenic | 17 | 16852066 | 16852066 | G | T | criteria provided, single submitter | ClinGen:CA117397,OMIM:604907.0006 |
single nucleotide variant | NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) | TNFRSF13B | Pathogenic/Likely pathogenic | 17 | 16843779 | 16843779 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA203874 |
Duplication | NM_012452.3(TNFRSF13B):c.572dup (p.Asp191fs) | TNFRSF13B | Pathogenic | 17 | 16843698 | 16843699 | A | AT | criteria provided, single submitter | - |
single nucleotide variant | NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) | TNFRSF13B | Pathogenic | 17 | 16843692 | 16843692 | G | T | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) | TNFRSF13B | Pathogenic | 17 | 16843689 | 16843690 | GG | TT | criteria provided, multiple submitters, no conflicts | ClinGen:CA117394,OMIM:604907.0005 |