Knowledge base for genomic medicine in Japanese
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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_017739.4(POMGNT1):c.1905del (p.Lys635fs) | POMGNT1 | Likely pathogenic | 1 | 46655020 | 46655020 | GC | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1895+1G>C | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655129 | 46655129 | C | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1604+1G>A | POMGNT1 | Likely pathogenic | 1 | 46656391 | 46656391 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.880-1G>A | POMGNT1 | Likely pathogenic | 1 | 46659598 | 46659598 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1786-1G>A | POMGNT1 | Likely pathogenic | 1 | 46655240 | 46655240 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1649+2T>G | POMGNT1 | Likely pathogenic | 1 | 46656143 | 46656143 | A | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1605-1G>C | POMGNT1 | Likely pathogenic | 1 | 46656190 | 46656190 | C | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1152+2T>C | POMGNT1 | Likely pathogenic | 1 | 46658844 | 46658844 | A | G | criteria provided, single submitter | - |
| Deletion | NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) | POMGNT1 | Likely pathogenic | 1 | 46662643 | 46662644 | CAT | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter) | POMGNT1 | Pathogenic/Likely pathogenic | 1 | 46655173 | 46655173 | T | A | criteria provided, multiple submitters, no conflicts | - |
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