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。
エメリー・ドレイフス型筋ジストロフィー
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) | ||||||||||
| Deletion | NM_000117.3(EMD):c.621del (p.Pro208fs) | EMD | Pathogenic | X | 153609412 | 153609412 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645373324 |
| Duplication | NM_000117.3(EMD):c.640_644dup (p.Gln219fs) | EMD | Pathogenic/Likely pathogenic | X | 153609431 | 153609432 | T | TGGGGC | criteria provided, multiple submitters, no conflicts | ClinGen:CA645373325 |
| Deletion | NM_000117.3(EMD):c.674_678del (p.Leu225fs) | EMD | Pathogenic | X | 153609466 | 153609470 | CTCTGG | C | criteria provided, single submitter | ClinGen:CA645373326 |
| Insertion | NM_000117.3(EMD):c.703_704insA (p.Phe235fs) | EMD | Likely pathogenic | X | 153609495 | 153609496 | T | TA | criteria provided, single submitter | ClinGen:CA645373327 |
| single nucleotide variant | NM_000117.3(EMD):c.82+1G>T | EMD | Pathogenic | X | 153607927 | 153607927 | G | T | criteria provided, single submitter | ClinGen:CA415257200 |
| Deletion | NM_000117.3(EMD):c.46_82+6del | EMD | Likely pathogenic | X | 153607890 | 153607932 | GCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGC | G | criteria provided, single submitter | ClinGen:CA645372695 |
| Deletion | NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) | LMNA | Likely pathogenic | 1 | 156100515 | 156100529 | AAGCGCACGCTGGAGG | A | criteria provided, single submitter | ClinGen:CA645372476 |
| single nucleotide variant | NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) | LMNA | Pathogenic | 1 | 156104999 | 156104999 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA342817513 |
| Deletion | NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) | LMNA | Pathogenic | 1 | 156105005 | 156105010 | GAGGAAC | G | criteria provided, single submitter | ClinGen:CA645372479 |
| single nucleotide variant | NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) | LMNA | Likely pathogenic | 1 | 156105872 | 156105872 | A | T | criteria provided, single submitter | ClinGen:CA342820510 |
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