Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_003242.6(TGFBR2):c.1397-1G>A | TGFBR2 | Pathogenic | 3 | 30729875 | 30729875 | G | A | criteria provided, single submitter | ClinGen:CA351809182 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) | TGFBR2 | Likely pathogenic | 3 | 30732950 | 30732950 | G | A | criteria provided, single submitter | ClinGen:CA351809564 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg) | TGFBR2 | Likely pathogenic | 3 | 30713726 | 30713726 | G | C | criteria provided, single submitter | ClinGen:CA351808443 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu) | TGFBR2 | Pathogenic | 3 | 30715721 | 30715721 | G | T | criteria provided, single submitter | ClinGen:CA351809138 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg) | TGFBR2 | Pathogenic | 3 | 30713805 | 30713805 | A | G | criteria provided, single submitter | ClinGen:CA351808600 |
single nucleotide variant | NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) | TGFBR2 | Likely pathogenic | 3 | 30713432 | 30713432 | G | A | criteria provided, single submitter | - |
Deletion | NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) | TGFBR2 | Likely pathogenic | 3 | 30729925 | 30729926 | CCT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg) | TGFBR2 | Likely pathogenic | 3 | 30729989 | 30729989 | T | C | criteria provided, single submitter | - |