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.1497G>A (p.Trp499Ter) | ABCA4 | Pathogenic | 1 | 94543303 | 94543303 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA341281905 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94546115 | 94546115 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA26870533 |
| Deletion | NM_000350.3(ABCA4):c.885del (p.Leu296fs) | ABCA4 | Pathogenic | 1 | 94546248 | 94546248 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA958684 |
| single nucleotide variant | NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) | ABCA4 | Pathogenic | 1 | 94564406 | 94564406 | G | A | criteria provided, single submitter | ClinGen:CA341289200 |
| single nucleotide variant | NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) | MERTK | Pathogenic/Likely pathogenic | 2 | 112777074 | 112777074 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA1831727 |
| single nucleotide variant | NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) | PCARE | Pathogenic/Likely pathogenic | 2 | 29294126 | 29294126 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA1592053 |
| single nucleotide variant | NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) | PCARE | Pathogenic | 2 | 29296370 | 29296370 | C | T | criteria provided, single submitter | ClinGen:CA1592578 |
| Deletion | NM_001201543.2(FAM161A):c.782del (p.Asp261fs) | FAM161A | Pathogenic | 2 | 62067357 | 62067357 | AT | A | criteria provided, single submitter | ClinGen:CA533181504 |
| Duplication | NM_016247.4(IMPG2):c.3023-6_3030dup | IMPG2 | Pathogenic/Likely pathogenic | 3 | 100951827 | 100951828 | C | CTTCATCACCTAAAA | criteria provided, multiple submitters, no conflicts | ClinGen:CA2518842 |
| single nucleotide variant | NM_000539.3(RHO):c.83A>G (p.Gln28Arg) | RHO | Pathogenic | 3 | 129247659 | 129247659 | A | G | criteria provided, single submitter | ClinGen:CA354495583 |
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