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.1659C>G (p.Phe553Leu) | ABCA4 | Pathogenic | 1 | 94528769 | 94528769 | G | C | criteria provided, single submitter | ClinGen:CA226916 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94528713 | 94528713 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA226919,UniProtKB:P78363#VAR_008416 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) | ABCA4 | Likely pathogenic | 1 | 94528281 | 94528281 | G | A | criteria provided, single submitter | ClinGen:CA226926 |
| single nucleotide variant | NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr) | ABCA4 | Likely pathogenic | 1 | 94577118 | 94577118 | C | T | criteria provided, single submitter | ClinGen:CA226928,UniProtKB:P78363#VAR_012497 |
| single nucleotide variant | NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94577117 | 94577117 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA226931,UniProtKB:P78363#VAR_008492 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94528266 | 94528266 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA226932,UniProtKB:P78363#VAR_008418 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94528265 | 94528265 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226933,UniProtKB:P78363#VAR_012523 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu) | ABCA4 | Likely pathogenic | 1 | 94528248 | 94528248 | A | G | criteria provided, single submitter | ClinGen:CA226938 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) | ABCA4 | Likely pathogenic | 1 | 94528217 | 94528217 | C | T | criteria provided, single submitter | ClinGen:CA226943 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) | ABCA4 | Likely pathogenic | 1 | 94528167 | 94528167 | G | T | criteria provided, single submitter | ClinGen:CA226948,UniProtKB:P78363#VAR_012526 |
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