single nucleotide variant | NM_003238.6(TGFB2):c.644-2A>G | TGFB2 | Likely pathogenic | 1 | 218607678 | 218607678 | A | G | criteria provided, single submitter | ClinGen:CA16042310 |
single nucleotide variant | NM_003238.6(TGFB2):c.583G>T (p.Glu195Ter) | TGFB2 | Pathogenic | 1 | 218607496 | 218607496 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA323602 |
Deletion | NM_003238.6(TGFB2):c.576_577del (p.Arg193fs) | TGFB2 | Pathogenic | 1 | 218607489 | 218607490 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617063 |
single nucleotide variant | NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys) | TGFB2 | Likely pathogenic | 1 | 218607460 | 218607460 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) | TGFB2 | Pathogenic/Likely pathogenic | 1 | 218607457 | 218607457 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA346685 |
Deletion | NM_003238.6(TGFB2):c.419del (p.Asn140fs) | TGFB2 | Likely pathogenic | 1 | 218578582 | 218578582 | GA | G | criteria provided, single submitter | ClinGen:CA16042309 |
single nucleotide variant | NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) | TGFB2 | Pathogenic/Likely pathogenic | 1 | 218578555 | 218578555 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA351959 |
Duplication | NM_003238.6(TGFB2):c.370dup (p.Arg124fs) | TGFB2 | Likely pathogenic | 1 | 218578533 | 218578534 | C | CA | criteria provided, single submitter | ClinGen:CA351821 |
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 | - |