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.1052G>A (p.Gly351Asp) | TGFBR2 | Likely pathogenic | 3 | 30713727 | 30713727 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA351866 |
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.1006T>G (p.Tyr336Asp) | TGFBR2 | Pathogenic | 3 | 30713681 | 30713681 | T | G | criteria provided, single submitter | ClinGen:CA351808352 |
single nucleotide variant | NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln) | TGFBR2 | Likely pathogenic | 3 | 30713673 | 30713673 | T | A | criteria provided, single submitter | ClinGen:CA324102 |
single nucleotide variant | NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) | TGFBR2 | Pathogenic/Likely pathogenic | 3 | 30713534 | 30713534 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020788 |
single nucleotide variant | NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) | TGFBR2 | Pathogenic | 3 | 30713506 | 30713506 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587565 |
single nucleotide variant | NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) | TGFBR2 | Likely pathogenic | 3 | 30713432 | 30713432 | G | A | criteria provided, single submitter | - |