single nucleotide variant | NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67473722 | 67473722 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020119 |
single nucleotide variant | NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter) | SMAD3 | Pathogenic | 15 | 67358574 | 67358574 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA323266 |
single nucleotide variant | NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter) | SMAD3 | Pathogenic | 15 | 67358646 | 67358646 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA325173 |
Duplication | NM_005902.4(SMAD3):c.263dup (p.Tyr88Ter) | SMAD3 | Pathogenic | 15 | 67457288 | 67457289 | T | TA | criteria provided, single submitter | ClinGen:CA322123 |
Indel | NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67457301 | 67457307 | GGCGATG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA320096 |
single nucleotide variant | NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67457303 | 67457303 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA062085 |
single nucleotide variant | NM_005902.4(SMAD3):c.401-6G>A | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67457585 | 67457585 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_005902.4(SMAD3):c.455del (p.Pro152fs) | SMAD3 | Pathogenic | 15 | 67457640 | 67457640 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA320725 |
Deletion | NM_005902.4(SMAD3):c.483del (p.Glu162fs) | SMAD3 | Pathogenic | 15 | 67457670 | 67457670 | TC | T | criteria provided, single submitter | ClinGen:CA323716 |
Duplication | NM_005902.4(SMAD3):c.492dup (p.Asn165Ter) | SMAD3 | Pathogenic | 15 | 67457681 | 67457682 | C | CT | criteria provided, single submitter | - |