Deletion | NM_003238.6(TGFB2):c.356del (p.Pro119fs) | TGFB2 | Pathogenic | 1 | 218578518 | 218578518 | TC | T | criteria provided, single submitter | ClinGen:CA322864 |
single nucleotide variant | NM_003238.6(TGFB2):c.346+1G>C | TGFB2 | Likely pathogenic | 1 | 218520390 | 218520390 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_003238.6(TGFB2):c.346+1G>T | TGFB2 | Likely pathogenic | 1 | 218520390 | 218520390 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_003238.6(TGFB2):c.346+1G>A | TGFB2 | Likely pathogenic | 1 | 218520390 | 218520390 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA344725835 |
single nucleotide variant | NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter) | TGFB2 | Pathogenic | 1 | 218520340 | 218520340 | C | A | criteria provided, single submitter | ClinGen:CA353619 |
Duplication | NM_003238.6(TGFB2):c.294_297dup (p.Ala100fs) | TGFB2 | Likely pathogenic | 1 | 218520336 | 218520337 | A | ACTAC | criteria provided, single submitter | - |
Deletion | NM_003238.6(TGFB2):c.280del (p.Ser94fs) | TGFB2 | Pathogenic | 1 | 218520323 | 218520323 | GA | G | criteria provided, single submitter | ClinGen:CA658795601 |
Duplication | NM_003238.6(TGFB2):c.252dup (p.Arg85fs) | TGFB2 | Pathogenic | 1 | 218520293 | 218520294 | C | CG | criteria provided, single submitter | ClinGen:CA16610008 |
Deletion | NM_003238.6(TGFB2):c.229_245del (p.Leu77fs) | TGFB2 | Pathogenic | 1 | 218520271 | 218520287 | ACTTGCTCCAGGAGAAGG | A | criteria provided, single submitter | ClinGen:CA658795600 |
Indel | NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs) | TGFB2 | Pathogenic | 1 | 218520281 | 218520282 | GA | AAG | criteria provided, single submitter | - |