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。
シャルコー・マリー・トゥース病
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_000530.8(MPZ):c.296T>C (p.Ile99Thr) | MPZ | Pathogenic | 1 | 161276650 | 161276650 | A | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) | MPZ | Pathogenic | 1 | 161277071 | 161277071 | C | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) | MPZ | Pathogenic | 1 | 161277074 | 161277074 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) | MPZ | Pathogenic | 1 | 161277078 | 161277078 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) | MPZ | Likely pathogenic | 1 | 161277082 | 161277082 | C | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) | MPZ | Pathogenic | 1 | 161277085 | 161277085 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) | MPZ | Pathogenic/Likely pathogenic | 1 | 161277088 | 161277088 | G | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000530.8(MPZ):c.190_192del (p.Phe64del) | MPZ | Likely pathogenic | 1 | 161277090 | 161277092 | TGAA | T | criteria provided, single submitter | - |
| Deletion | NM_000530.8(MPZ):c.130_137del (p.Ser44fs) | MPZ | Pathogenic/Likely pathogenic | 1 | 161277145 | 161277152 | CACCCGGGA | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) | MPZ | Likely pathogenic | 1 | 161277181 | 161277181 | G | A | criteria provided, single submitter | - |
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