Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性高コレステロール血症
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_000527.5(LDLR):c.99del (p.Gln33fs) | LDLR | Pathogenic | 19 | 11210930 | 11210930 | AG | A | criteria provided, single submitter | ClinGen:CA10584751,LDLR-LOVD, British Heart Foundation:LDLR_001898 |
| single nucleotide variant | NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) | LDLR | Pathogenic/Likely pathogenic | 19 | 11210931 | 11210931 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584752,LDLR-LOVD, British Heart Foundation:LDLR_001214 |
| single nucleotide variant | NM_000527.5(LDLR):c.101G>C (p.Cys34Ser) | LDLR | Likely pathogenic | 19 | 11210932 | 11210932 | G | C | criteria provided, single submitter | ClinGen:CA10584753,LDLR-LOVD, British Heart Foundation:LDLR_000018 |
| single nucleotide variant | NM_000527.5(LDLR):c.102C>A (p.Cys34Ter) | LDLR | Pathogenic | 19 | 11210933 | 11210933 | C | A | criteria provided, single submitter | ClinGen:CA10584754,LDLR-LOVD, British Heart Foundation:LDLR_001330 |
| single nucleotide variant | NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) | LDLR | Pathogenic | 19 | 11210934 | 11210934 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584755,LDLR-LOVD, British Heart Foundation:LDLR_001334 |
| Deletion | NM_000527.5(LDLR):c.108del (p.Asp36fs) | LDLR | Pathogenic | 19 | 11210939 | 11210939 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584757,LDLR-LOVD, British Heart Foundation:LDLR_000817 |
| Duplication | NM_000527.5(LDLR):c.114dup (p.Cys39fs) | LDLR | Pathogenic | 19 | 11210945 | 11210945 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584758,LDLR-LOVD, British Heart Foundation:LDLR_000960 |
| Indel | NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter) | LDLR | Pathogenic | 19 | 11210947 | 11210948 | GC | AA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584759,LDLR-LOVD, British Heart Foundation:LDLR_001246 |
| Deletion | NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer) | LDLR | Pathogenic | 19 | 11210948 | 11210948 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584760,LDLR-LOVD, British Heart Foundation:LDLR_001371 |
| Deletion | NM_000527.5(LDLR):c.118del (p.Ile40fs) | LDLR | Pathogenic | 19 | 11210949 | 11210949 | CA | C | criteria provided, single submitter | ClinGen:CA10584761,LDLR-LOVD, British Heart Foundation:LDLR_000382 |
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