Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000015.10:g.(?_66703239)_(67190556_?)del | SMAD3 | Pathogenic | 15 | 66995577 | 67482894 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_005902.4(SMAD3):c.206+1G>C | SMAD3 | Likely pathogenic | 15 | 67358699 | 67358699 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) | SMAD2 | Pathogenic | 18 | 45374908 | 45374908 | C | G | criteria provided, single submitter | OMIM:601366.0008,ClinGen:CA249847 |
single nucleotide variant | NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) | SMAD2 | Pathogenic | 18 | 45395659 | 45395659 | C | A | criteria provided, single submitter | ClinGen:CA16620692,OMIM:601366.0007 |
single nucleotide variant | NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter) | SMAD2 | Pathogenic | 18 | 45422955 | 45422955 | A | T | criteria provided, single submitter | ClinGen:CA402502947 |
single nucleotide variant | NM_005901.6(SMAD2):c.53G>A (p.Trp18Ter) | SMAD2 | Likely pathogenic | 18 | 45423075 | 45423075 | C | T | criteria provided, single submitter | ClinGen:CA402503551 |
Duplication | NM_005901.6(SMAD2):c.773dup (p.Asn258fs) | SMAD2 | Pathogenic | 18 | 45377655 | 45377656 | A | AT | criteria provided, single submitter | ClinGen:CA658799051 |