Knowledge base for genomic medicine in Japanese
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ロイス・ディーツ症候群
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_003238.6(TGFB2):c.1139G>T (p.Cys380Phe) | TGFB2 | Likely pathogenic | 1 | 218614598 | 218614598 | G | T | criteria provided, single submitter | ClinGen:CA344727869 |
| single nucleotide variant | NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) | TGFBR1 | Pathogenic | 9 | 101891269 | 101891269 | T | G | criteria provided, single submitter | ClinGen:CA374225763 |
| Duplication | NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup) | TGFBR1 | Pathogenic | 9 | 101900198 | 101900199 | T | TTGG | criteria provided, single submitter | ClinGen:CA658797254 |
| Deletion | NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) | TGFB3 | Pathogenic/Likely pathogenic | 14 | 76425664 | 76425667 | TTCAG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658798230 |
| single nucleotide variant | NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) | SMAD3 | Likely pathogenic | 15 | 67358493 | 67358493 | A | C | criteria provided, single submitter | ClinGen:CA393202665 |
| single nucleotide variant | NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67473653 | 67473653 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA392956090 |
| single nucleotide variant | NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter) | SMAD3 | Pathogenic | 15 | 67473791 | 67473791 | G | T | criteria provided, single submitter | ClinGen:CA392956433 |
| single nucleotide variant | NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) | TGFBR1 | Likely pathogenic | 9 | 101907101 | 101907101 | T | C | criteria provided, single submitter | ClinGen:CA374231501 |
| Deletion | NM_005902.4(SMAD3):c.648del (p.His216fs) | SMAD3 | Likely pathogenic | 15 | 67462932 | 67462932 | AT | A | criteria provided, single submitter | ClinGen:CA658798395 |
| Deletion | NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs) | SMAD3 | Likely pathogenic | 15 | 67482823 | 67482838 | AGGTCCTCACCCAGATG | A | criteria provided, single submitter | ClinGen:CA658798398 |
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