single nucleotide variant | NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67473653 | 67473653 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA323714 |
single nucleotide variant | NM_005902.4(SMAD3):c.772G>C (p.Asp258His) | SMAD3 | Likely pathogenic | 15 | 67473692 | 67473692 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA325318 |
single nucleotide variant | NM_005902.4(SMAD3):c.787C>G (p.Pro263Ala) | SMAD3 | Pathogenic | 15 | 67473707 | 67473707 | C | G | criteria provided, single submitter | ClinGen:CA321192 |
single nucleotide variant | NM_005902.4(SMAD3):c.803G>A (p.Arg268His) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67473723 | 67473723 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA321807 |
single nucleotide variant | NM_005902.4(SMAD3):c.821T>C (p.Leu274Pro) | SMAD3 | Likely pathogenic | 15 | 67473741 | 67473741 | T | C | criteria provided, single submitter | ClinGen:CA323399 |
single nucleotide variant | NM_005902.4(SMAD3):c.871+2T>C | SMAD3 | Pathogenic | 15 | 67473793 | 67473793 | T | C | criteria provided, single submitter | ClinGen:CA320562 |
Deletion | NM_005902.4(SMAD3):c.942del (p.Phe314fs) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67477131 | 67477131 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA323883 |
Duplication | NM_005902.4(SMAD3):c.990dup (p.Val331fs) | SMAD3 | Pathogenic | 15 | 67477181 | 67477182 | A | AC | criteria provided, single submitter | ClinGen:CA322583 |
single nucleotide variant | NM_005902.4(SMAD3):c.1222G>C (p.Asp408His) | SMAD3 | Likely pathogenic | 15 | 67482818 | 67482818 | G | C | criteria provided, single submitter | ClinGen:CA322624 |
single nucleotide variant | NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) | SMAD3 | Likely pathogenic | 15 | 67479847 | 67479847 | G | C | criteria provided, single submitter | ClinGen:CA10587882 |