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。
網膜色素変性症
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_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) | HGSNAT | Pathogenic | 8 | 43024359 | 43024359 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) | IFT140 | Pathogenic/Likely pathogenic | 16 | 1633370 | 1633370 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) | HGSNAT | Pathogenic/Likely pathogenic | 8 | 43052991 | 43052991 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_003611.3(OFD1):c.915_916del (p.Arg306fs) | OFD1 | Pathogenic | X | 13767631 | 13767632 | CAA | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) | OFD1 | Pathogenic | X | 13774788 | 13774788 | C | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_003611.3(OFD1):c.312+1G>T | OFD1 | Likely pathogenic | X | 13754798 | 13754798 | G | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) | BBS2 | Likely pathogenic | 16 | 56544783 | 56544783 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_004311.4(ARL3):c.445C>T (p.Arg149Cys) | ARL3 | Pathogenic | 10 | 104445629 | 104445629 | G | A | criteria provided, single submitter | OMIM:604695.0001 |
| single nucleotide variant | NM_201253.3(CRB1):c.70+1G>A | CRB1 | Pathogenic | 1 | 197237613 | 197237613 | G | A | criteria provided, single submitter | - |
| Deletion | NM_201253.3(CRB1):c.410del (p.Pro137fs) | CRB1 | Pathogenic | 1 | 197297889 | 197297889 | GC | G | criteria provided, single submitter | - |
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