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_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) | PCDH15 | Pathogenic/Likely pathogenic | 10 | 55698632 | 55698632 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA261844 |
| single nucleotide variant | NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) | TMC1 | Pathogenic | 9 | 75404174 | 75404174 | C | T | criteria provided, multiple submitters, no conflicts | ClinVar:424813,ClinGen:CA261926 |
| single nucleotide variant | NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) | TMC1 | Likely pathogenic | 9 | 75369733 | 75369733 | C | T | criteria provided, multiple submitters, no conflicts | ClinVar:424807,ClinGen:CA261929 |
| single nucleotide variant | NM_147196.3(TMIE):c.211+3G>C | TMIE | Likely pathogenic | 3 | 46747400 | 46747400 | G | C | criteria provided, single submitter | ClinGen:CA261933 |
| single nucleotide variant | NM_147196.3(TMIE):c.251G>T (p.Arg84Leu) | TMIE | Likely pathogenic | 3 | 46750655 | 46750655 | G | T | criteria provided, single submitter | ClinGen:CA261934 |
| single nucleotide variant | NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) | OTOF | Pathogenic | 2 | 26702193 | 26702193 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA262042 |
| Insertion | NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) | OTOF | Likely pathogenic | 2 | 26700319 | 26700320 | C | CT | criteria provided, single submitter | ClinGen:CA262044 |
| single nucleotide variant | NM_194248.3(OTOF):c.4228-1G>A | OTOF | Likely pathogenic | 2 | 26690102 | 26690102 | C | T | criteria provided, single submitter | ClinGen:CA262045 |
| single nucleotide variant | NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) | OTOF | Pathogenic/Likely pathogenic | 2 | 26688621 | 26688621 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA344698 |
| single nucleotide variant | NM_194248.3(OTOF):c.5193-1G>A | OTOF | Likely pathogenic | 2 | 26685050 | 26685050 | C | T | reviewed by expert panel | ClinGen:CA262046,ClinVar:424809 |
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