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家族性胸部大動脈瘤・解離
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| 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.1279C>T (p.Pro427Ser) | TGFBR2 | Likely pathogenic | 3 | 30715621 | 30715621 | C | T | criteria provided, single submitter | ClinGen:CA319801 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp) | TGFBR2 | Pathogenic | 3 | 30715619 | 30715619 | C | A | criteria provided, single submitter | ClinGen:CA323900 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr) | TGFBR2 | Pathogenic | 3 | 30715618 | 30715618 | G | A | criteria provided, single submitter | ClinGen:CA321583 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu) | TGFBR2 | Likely pathogenic | 3 | 30715598 | 30715598 | T | A | criteria provided, single submitter | ClinGen:CA324927 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) | TGFBR2 | Likely pathogenic | 3 | 30715597 | 30715597 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA322630 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) | TGFBR2 | Likely pathogenic | 3 | 30713795 | 30713795 | C | T | criteria provided, single submitter | ClinGen:CA320627 |
| 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.1570G>A (p.Asp524Asn) | TGFBR2 | Pathogenic/Likely pathogenic | 3 | 30732957 | 30732957 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020712 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) | TGFBR2 | Pathogenic | 3 | 30713742 | 30713742 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020594 |
| 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 |
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