Knowledge base for genomic medicine in Japanese
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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_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys) | ABCA4 | Likely pathogenic | 1 | 94495989 | 94495989 | C | A | criteria provided, single submitter | ClinGen:CA10602430 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4254-1G>C | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94496083 | 94496083 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602431 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4253+5G>A | ABCA4 | Pathogenic | 1 | 94496547 | 94496547 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602432 |
| single nucleotide variant | NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94496610 | 94496610 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA957690 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) | ABCA4 | Pathogenic | 1 | 94497591 | 94497591 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA957778 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr) | ABCA4 | Likely pathogenic | 1 | 94502343 | 94502343 | A | G | criteria provided, single submitter | ClinGen:CA10602434 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=) | ABCA4 | Pathogenic | 1 | 94502701 | 94502701 | C | T | criteria provided, single submitter | ClinGen:CA10602435 |
| Duplication | NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) | ABCA4 | Pathogenic | 1 | 94505673 | 94505674 | C | CTGCA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602436 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94506805 | 94506805 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA957928 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94506910 | 94506910 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602437 |
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