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) | ||||||||||
| Deletion | NM_000350.3(ABCA4):c.108del (p.Leu37fs) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94578581 | 94578581 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA226868 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) | ABCA4 | Pathogenic | 1 | 94544895 | 94544895 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA179692 |
| single nucleotide variant | NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) | ABCA4 | Pathogenic | 1 | 94578567 | 94578567 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226874 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) | ABCA4 | Pathogenic | 1 | 94544185 | 94544185 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226882 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94544167 | 94544167 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA226886,UniProtKB:P78363#VAR_008412 |
| Deletion | NM_000350.3(ABCA4):c.1344del (p.Met448fs) | ABCA4 | Pathogenic | 1 | 94544158 | 94544158 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226888 |
| Deletion | NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs) | ABCA4 | Pathogenic | 1 | 94543409 | 94543410 | CAA | C | criteria provided, single submitter | ClinGen:CA226891 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94528819 | 94528819 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA226904,UniProtKB:P78363#VAR_012519 |
| single nucleotide variant | NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94577135 | 94577135 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226908,UniProtKB:P78363#VAR_008400 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94528780 | 94528780 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226915,UniProtKB:P78363#VAR_012521 |
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