Knowledge base for genomic medicine in Japanese
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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) | ||||||||||
| Deletion | NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs) | PKD1 | Pathogenic | 16 | 2143034 | 2143053 | GAGGCATCCCCATAGCTGGCC | G | criteria provided, single submitter | ClinGen:CA658656506 |
| single nucleotide variant | NM_001009944.3(PKD1):c.10618+2T>G | PKD1 | Pathogenic | 16 | 2144091 | 2144091 | A | C | criteria provided, single submitter | ClinGen:CA394341207 |
| single nucleotide variant | NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro) | PKD1 | Likely pathogenic | 16 | 2152605 | 2152605 | A | G | criteria provided, single submitter | ClinGen:CA394361091 |
| single nucleotide variant | NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) | PKD1 | Likely pathogenic | 16 | 2153575 | 2153575 | A | G | criteria provided, single submitter | ClinGen:CA394363715 |
| single nucleotide variant | NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) | PKD1 | Pathogenic | 16 | 2153840 | 2153840 | C | A | criteria provided, single submitter | ClinGen:CA394365149 |
| single nucleotide variant | NM_001009944.3(PKD1):c.8162-1G>A | PKD1 | Pathogenic | 16 | 2153897 | 2153897 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA394365274 |
| Duplication | NM_001009944.3(PKD1):c.8017-1dup | PKD1 | Pathogenic | 16 | 2154640 | 2154641 | G | GC | criteria provided, single submitter | ClinGen:CA658658345 |
| Deletion | NM_001009944.3(PKD1):c.7704-2_7712del | PKD1 | Pathogenic | 16 | 2156017 | 2156027 | GGCCAAAGACCT | G | criteria provided, single submitter | ClinGen:CA658658346 |
| single nucleotide variant | NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter) | PKD1 | Pathogenic | 16 | 2156851 | 2156851 | G | C | criteria provided, single submitter | ClinGen:CA394371695 |
| single nucleotide variant | NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) | PKD1 | Pathogenic | 16 | 2156889 | 2156889 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394371975 |
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