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神経線維腫症I型
小児・神経疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile) | NF1 | Pathogenic/Likely pathogenic | 17 | 29559850 | 29559850 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) | NF1 | Pathogenic/Likely pathogenic | 17 | 29652882 | 29652882 | T | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.1722-1G>A | NF1 | Pathogenic/Likely pathogenic | 17 | 29550461 | 29550461 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.479+1G>T | NF1 | Pathogenic/Likely pathogenic | 17 | 29490395 | 29490395 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29664863 | 29664863 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.6147+2T>C | NF1 | Pathogenic/Likely pathogenic | 17 | 29663493 | 29663493 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29654605 | 29654605 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.5268+2T>G | NF1 | Pathogenic/Likely pathogenic | 17 | 29653272 | 29653272 | T | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs) | NF1 | Pathogenic/Likely pathogenic | 17 | 29592265 | 29592266 | AAG | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001042492.3(NF1):c.4658del (p.Pro1553fs) | NF1 | Pathogenic/Likely pathogenic | 17 | 29588808 | 29588808 | AC | A | criteria provided, multiple submitters, no conflicts | - |
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