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膵臓がん・悪性黒色腫症候群
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_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) | CDKN2A | Pathogenic | 9 | 21974748 | 21974748 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086600 |
| Deletion | NC_000009.12:g.(?_21970896)_(21974833_?)del | CDKN2A | Pathogenic | 9 | 21970895 | 21974832 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000077.5(CDKN2A):c.30del (p.Glu10fs) | CDKN2A | Pathogenic | 9 | 21974797 | 21974797 | GC | G | criteria provided, single submitter | ClinGen:CA658656038 |
| Indel | NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs) | CDKN2A | Likely pathogenic | 9 | 21970965 | 21970977 | GCGCAGGTACCGT | CGCATC | criteria provided, single submitter | ClinGen:CA658656022 |
| Deletion | NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs) | CDKN2A | Likely pathogenic | 9 | 21971003 | 21971018 | TCAGCCAGGTCCACGGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656026 |
| single nucleotide variant | NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter) | CDKN2A | Pathogenic | 9 | 21974695 | 21974695 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086506 |
| single nucleotide variant | NM_000077.5(CDKN2A):c.151-2A>G | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971209 | 21971209 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086464 |
| Duplication | NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) | CDKN2A | Pathogenic | 9 | 21974695 | 21974696 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA5012308 |
| single nucleotide variant | NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) | CDKN2A | Likely pathogenic | 9 | 21971062 | 21971062 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086116 |
| single nucleotide variant | NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971199 | 21971199 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA190730408 |
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