Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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) | ||||||||||
| Deletion | NC_000015.10:g.(?_67186987)_(67187509_?)del | SMAD3 | Pathogenic | 15 | 67479325 | 67479847 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr) | TGFBR1 | Likely pathogenic | 9 | 101904872 | 101904872 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67473674 | 67473674 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) | TGFBR2 | Likely pathogenic | 3 | 30713432 | 30713432 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_003239.5(TGFB3):c.755-1G>C | TGFB3 | Likely pathogenic | 14 | 76429831 | 76429831 | C | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) | TGFBR1 | Pathogenic/Likely pathogenic | 9 | 101911532 | 101911532 | T | C | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs) | SMAD3 | Likely pathogenic | 15 | 67473656 | 67473657 | G | GAGAC | criteria provided, single submitter | - |
| single nucleotide variant | NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) | SMAD3 | Likely pathogenic | 15 | 67473768 | 67473768 | T | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly) | SMAD3 | Likely pathogenic | 15 | 67473771 | 67473771 | A | G | criteria provided, single submitter | - |
| Deletion | NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) | TGFBR2 | Likely pathogenic | 3 | 30729925 | 30729926 | CCT | C | criteria provided, single submitter | - |
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