Knowledge base for genomic medicine in Japanese
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PTEN過誤腫症候群
腫瘍性疾患
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_000314.8(PTEN):c.367C>G (p.His123Asp) | PTEN | Pathogenic | 10 | 89692883 | 89692883 | C | G | reviewed by expert panel | ClinGen:CA377482278 |
| Deletion | NM_000314.8(PTEN):c.376_377del (p.Ala126fs) | PTEN | Pathogenic | 10 | 89692892 | 89692893 | AGC | A | criteria provided, single submitter | ClinGen:CA645369480 |
| single nucleotide variant | NM_000314.8(PTEN):c.377C>T (p.Ala126Val) | PTEN | Likely pathogenic | 10 | 89692893 | 89692893 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA377482302 |
| single nucleotide variant | NM_000314.8(PTEN):c.380G>A (p.Gly127Glu) | PTEN | Likely pathogenic | 10 | 89692896 | 89692896 | G | A | criteria provided, single submitter | ClinGen:CA377482305 |
| single nucleotide variant | NM_000314.8(PTEN):c.384G>C (p.Lys128Asn) | PTEN | Likely pathogenic | 10 | 89692900 | 89692900 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA377482313 |
| single nucleotide variant | NM_000314.8(PTEN):c.402G>T (p.Met134Ile) | PTEN | Likely pathogenic | 10 | 89692918 | 89692918 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA377482341 |
| single nucleotide variant | NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) | PTEN | Pathogenic/Likely pathogenic | 10 | 89692920 | 89692920 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA377482344 |
| Deletion | NM_000314.8(PTEN):c.432del (p.Lys144fs) | PTEN | Pathogenic | 10 | 89692946 | 89692946 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369481 |
| Deletion | NM_000314.8(PTEN):c.437del (p.Phe145_Leu146insTer) | PTEN | Pathogenic | 10 | 89692949 | 89692949 | AT | A | criteria provided, single submitter | ClinGen:CA470661929 |
| Indel | NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs) | PTEN | Likely pathogenic | 10 | 89692957 | 89692958 | GG | A | reviewed by expert panel | ClinGen:CA645369482 |
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