Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_003238.6(TGFB2):c.821dup (p.Asn274fs) | TGFB2 | Pathogenic/Likely pathogenic | 1 | 218609370 | 218609371 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA322262 |
Insertion | NM_003238.6(TGFB2):c.644_645insT (p.Arg216fs) | TGFB2 | Likely pathogenic | 1 | 218607680 | 218607681 | A | AT | criteria provided, single submitter | ClinGen:CA319954 |
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.356del (p.Pro119fs) | TGFB2 | Pathogenic | 1 | 218578518 | 218578518 | TC | T | criteria provided, single submitter | ClinGen:CA322864 |
Deletion | NM_003238.6(TGFB2):c.196del (p.Glu66fs) | TGFB2 | Pathogenic | 1 | 218520238 | 218520238 | CG | C | 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 |
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 |