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。
多発性嚢胞腎
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_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2152161 | 2152161 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2152610 | 2152610 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) | PKD1 | Likely pathogenic | 16 | 2152830 | 2152830 | A | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2155355 | 2155355 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) | PKD1 | Pathogenic | 16 | 2155424 | 2155424 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg) | PKD1 | Likely pathogenic | 16 | 2155873 | 2155873 | A | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn) | PKD1 | Likely pathogenic | 16 | 2156208 | 2156208 | C | G | criteria provided, single submitter | - |
| Deletion | NM_001009944.3(PKD1):c.5411del (p.Gly1804fs) | PKD1 | Likely pathogenic | 16 | 2159757 | 2159757 | GC | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter) | PKD1 | Likely pathogenic | 16 | 2159889 | 2159889 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2160211 | 2160211 | G | A | criteria provided, multiple submitters, no conflicts | - |
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