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BAP1関連腫瘍感受性症候群
腫瘍性疾患
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_004656.4(BAP1):c.1254T>A (p.Tyr418Ter) | BAP1 | Pathogenic | 3 | 52437907 | 52437907 | A | T | criteria provided, single submitter | ClinGen:CA16617998 |
| Deletion | NM_004656.4(BAP1):c.659+1del | BAP1 | Likely pathogenic | 3 | 52440844 | 52440844 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617999 |
| Duplication | NM_004656.4(BAP1):c.592dup (p.Glu198fs) | BAP1 | Pathogenic/Likely pathogenic | 3 | 52440911 | 52440912 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618000 |
| Duplication | NM_004656.4(BAP1):c.586dup (p.Trp196fs) | BAP1 | Likely pathogenic | 3 | 52440917 | 52440918 | C | CA | criteria provided, single submitter | ClinGen:CA16618001 |
| Deletion | NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs) | BAP1 | Pathogenic | 3 | 52437802 | 52437803 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA543056568 |
| Duplication | NM_004656.4(BAP1):c.1203dup (p.Glu402Ter) | BAP1 | Pathogenic | 3 | 52438515 | 52438516 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657309 |
| Deletion | NC_000003.11:g.(?_52436298)_(52443900_?)del | BAP1 | Pathogenic | 3 | 52436298 | 52443900 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000003.12:g.(?_52404447)_(52408612_?)del | BAP1 | Likely pathogenic | 3 | 52438463 | 52442628 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_004656.4(BAP1):c.757C>T (p.Gln253Ter) | BAP1 | Pathogenic | 3 | 52440295 | 52440295 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA353107109 |
| single nucleotide variant | NM_004656.4(BAP1):c.1984-1G>A | BAP1 | Likely pathogenic | 3 | 52436691 | 52436691 | C | T | criteria provided, single submitter | ClinGen:CA353096404 |
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