Knowledge base for genomic medicine in Japanese
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家族性膵がん
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) | ||||||||||
| Insertion | NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs) | BRCA2 | Pathogenic | 13 | 32972366 | 32972367 | C | CTA | criteria provided, single submitter | ClinGen:CA10579843 |
| Duplication | NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter) | PALB2 | Pathogenic | 16 | 23614864 | 23614865 | C | CCAAT | criteria provided, single submitter | ClinGen:CA10579912 |
| Deletion | NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs) | PALB2 | Pathogenic | 16 | 23614936 | 23614945 | TTCCAGAAGTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579916 |
| Deletion | NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23614946 | 23614967 | CAAGATTGCTGCTGCACAGTGAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579917 |
| single nucleotide variant | NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter) | PALB2 | Pathogenic | 16 | 23614983 | 23614983 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579919 |
| single nucleotide variant | NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) | PALB2 | Pathogenic | 16 | 23619185 | 23619185 | C | T | reviewed by expert panel | ClinGen:CA10579920 |
| Deletion | NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs) | PALB2 | Pathogenic | 16 | 23619288 | 23619289 | TCA | T | criteria provided, single submitter | ClinGen:CA10579923 |
| single nucleotide variant | NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) | PALB2 | Pathogenic | 16 | 23625361 | 23625361 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579929 |
| single nucleotide variant | NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) | PALB2 | Pathogenic | 16 | 23625412 | 23625412 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579930 |
| single nucleotide variant | NM_024675.4(PALB2):c.3113+5G>C | PALB2 | Pathogenic/Likely pathogenic | 16 | 23632678 | 23632678 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10579931 |
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