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.1903C>T (p.Gln635Ter) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94528167 | 94528167 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA226949 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1908G>T (p.Gln636His) | ABCA4 | Pathogenic | 1 | 94528162 | 94528162 | C | A | criteria provided, single submitter | ClinGen:CA226951,UniProtKB:P78363#VAR_012527 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter) | ABCA4 | Pathogenic | 1 | 94528153 | 94528153 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226952 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) | ABCA4 | Pathogenic | 1 | 94528137 | 94528137 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226960,UniProtKB:P78363#VAR_008421 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1937+1G>A | ABCA4 | Pathogenic | 1 | 94528132 | 94528132 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226961 |
| single nucleotide variant | NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94577102 | 94577102 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226964,UniProtKB:P78363#VAR_008401 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94526296 | 94526296 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA226965,UniProtKB:P78363#VAR_012529 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1A>G (p.Met1Val) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94586601 | 94586601 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA226968,ClinVar:236068 |
| Deletion | NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94526247 | 94526248 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA226970 |
| single nucleotide variant | NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94577093 | 94577093 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA226971,UniProtKB:P78363#VAR_012499 |
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