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.3323G>A (p.Arg1108His) | ABCA4 | Pathogenic | 1 | 94508322 | 94508322 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227109,UniProtKB:P78363#VAR_012563 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94508322 | 94508322 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227110,UniProtKB:P78363#VAR_012564 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3335C>A (p.Thr1112Asn) | ABCA4 | Pathogenic | 1 | 94506952 | 94506952 | G | T | criteria provided, single submitter | UniProtKB:P78363#VAR_008437,ClinGen:CA227112 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94506901 | 94506901 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227116,UniProtKB:P78363#VAR_008439 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3607+1G>A | ABCA4 | Likely pathogenic | 1 | 94505598 | 94505598 | C | T | criteria provided, single submitter | ClinGen:CA227124 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) | ABCA4 | Likely pathogenic | 1 | 94502811 | 94502811 | T | C | criteria provided, single submitter | ClinGen:CA227130 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3749T>C (p.Leu1250Pro) | ABCA4 | Likely pathogenic | 1 | 94502765 | 94502765 | A | G | criteria provided, single submitter | ClinGen:CA227132,UniProtKB:P78363#VAR_012567 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter) | ABCA4 | Pathogenic | 1 | 94502760 | 94502760 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227133 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) | ABCA4 | Pathogenic | 1 | 94502706 | 94502706 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227137 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3862+1G>A | ABCA4 | Pathogenic | 1 | 94502295 | 94502295 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227142 |
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