Deletion | Single allele | TGFB2 | Pathogenic | 1 | 215588712 | 222145072 | na | na | criteria provided, single submitter | - |
Deletion | Single allele | TGFB2 | Pathogenic | 1 | 216672181 | 220202575 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_003238.6(TGFB2):c.1140C>G (p.Cys380Trp) | TGFB2 | Likely pathogenic | 1 | 218614599 | 218614599 | C | G | criteria provided, single submitter | ClinGen:CA16603492 |
single nucleotide variant | NM_003238.6(TGFB2):c.1139G>T (p.Cys380Phe) | TGFB2 | Likely pathogenic | 1 | 218614598 | 218614598 | G | T | criteria provided, single submitter | ClinGen:CA344727869 |
single nucleotide variant | NM_003238.6(TGFB2):c.1086+1G>A | TGFB2 | Likely pathogenic | 1 | 218610839 | 218610839 | G | A | criteria provided, single submitter | - |
Deletion | NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs) | TGFB2 | Pathogenic | 1 | 218610773 | 218610777 | GTACAA | G | criteria provided, single submitter | ClinGen:CA281903,OMIM:190220.0003 |
single nucleotide variant | NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter) | TGFB2 | Pathogenic | 1 | 218610775 | 218610775 | C | A | criteria provided, single submitter | ClinGen:CA344727592 |
single nucleotide variant | NM_003238.6(TGFB2):c.1013C>A (p.Pro338His) | TGFB2 | Pathogenic | 1 | 218610765 | 218610765 | C | A | criteria provided, single submitter | ClinGen:CA281898,OMIM:190220.0001 |
Duplication | NM_003238.6(TGFB2):c.990dup (p.Gly331fs) | TGFB2 | Pathogenic | 1 | 218610741 | 218610742 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) | TGFB2 | Pathogenic/Likely pathogenic | 1 | 218610710 | 218610710 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA344727446,OMIM:190220.0005 |