Knowledge base for genomic medicine in Japanese
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遺伝性難聴
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_153700.2(STRC):c.4027C>T (p.Gln1343Ter) | STRC | Pathogenic/Likely pathogenic | 15 | 43896948 | 43896948 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA7528170 |
| single nucleotide variant | NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter) | LOXHD1 | Pathogenic | 18 | 44190752 | 44190752 | C | T | criteria provided, single submitter | ClinGen:CA402386738 |
| single nucleotide variant | NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp) | COL11A1 | Likely pathogenic | 1 | 103354295 | 103354295 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA341212411 |
| single nucleotide variant | NM_001243133.2(NLRP3):c.1783A>G (p.Ser595Gly) | NLRP3 | Likely pathogenic | 1 | 247588534 | 247588534 | A | G | criteria provided, single submitter | ClinGen:CA345557805 |
| single nucleotide variant | NM_031475.3(ESPN):c.292C>T (p.Gln98Ter) | ESPN | Likely pathogenic | 1 | 6485307 | 6485307 | C | T | criteria provided, single submitter | ClinGen:CA338084433 |
| single nucleotide variant | NM_031475.3(ESPN):c.1464+1G>A | ESPN | Likely pathogenic | 1 | 6505996 | 6505996 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA560228 |
| single nucleotide variant | NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) | WFS1 | Likely pathogenic | 4 | 6303671 | 6303671 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA2839622 |
| single nucleotide variant | NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6304122 | 6304122 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA356179417 |
| Deletion | NM_001038603.3(MARVELD2):c.595del (p.Val199fs) | MARVELD2 | Likely pathogenic | 5 | 68715806 | 68715806 | TG | T | criteria provided, single submitter | ClinGen:CA658657448 |
| Deletion | NM_022124.6(CDH23):c.6682del (p.Glu2228fs) | CDH23 | Pathogenic | 10 | 73553366 | 73553366 | AG | A | criteria provided, single submitter | ClinGen:CA658656076 |
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