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。
ヌーナン症候群
小児・神経疾患
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_004333.6(BRAF):c.1497A>T (p.Lys499Asn) | BRAF | Pathogenic | 7 | 140477811 | 140477811 | T | A | criteria provided, single submitter | UniProtKB:P15056#VAR_058625 |
| single nucleotide variant | NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) | BRAF | Pathogenic | 7 | 140477806 | 140477806 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA281977 |
| single nucleotide variant | NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) | BRAF | Pathogenic/Likely pathogenic | 7 | 140477806 | 140477806 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA280013 |
| single nucleotide variant | NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) | BRAF | Likely pathogenic | 7 | 140476814 | 140476814 | C | A | criteria provided, single submitter | ClinGen:CA281983 |
| single nucleotide variant | NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) | BRAF | Likely pathogenic | 7 | 140476811 | 140476811 | C | T | reviewed by expert panel | ClinGen:CA175337 |
| single nucleotide variant | NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) | BRAF | Pathogenic/Likely pathogenic | 7 | 140454033 | 140454033 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA280016 |
| single nucleotide variant | NM_004333.6(BRAF):c.1722C>G (p.His574Gln) | BRAF | Pathogenic/Likely pathogenic | 7 | 140454006 | 140454006 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA281986 |
| single nucleotide variant | NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) | BRAF | Pathogenic | 7 | 140453148 | 140453148 | C | A | reviewed by expert panel | ClinGen:CA220161,UniProtKB:P15056#VAR_035098 |
| single nucleotide variant | NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) | BRAF | Pathogenic | 7 | 140453139 | 140453139 | G | A | reviewed by expert panel | ClinGen:CA281995 |
| single nucleotide variant | NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) | BRAF | Pathogenic | 7 | 140453136 | 140453136 | A | C | reviewed by expert panel | ClinGen:CA281998 |
Copyright © Japan Institute for Health Security. All rights reserved.