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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.2329T>G (p.Trp777Gly) | NF1 | Pathogenic/Likely pathogenic | 17 | 29554544 | 29554544 | T | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29585504 | 29585504 | T | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) | NF1 | Pathogenic/Likely pathogenic | 17 | 29527613 | 29527613 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) | NF1 | Pathogenic/Likely pathogenic | 17 | 29553702 | 29553702 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.4110+1G>T | NF1 | Pathogenic/Likely pathogenic | 17 | 29576138 | 29576138 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.2326-1G>C | NF1 | Pathogenic/Likely pathogenic | 17 | 29554540 | 29554540 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29422385 | 29422385 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) | NF1 | Pathogenic/Likely pathogenic | 17 | 29587512 | 29587512 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.2410-16A>G | NF1 | Pathogenic/Likely pathogenic | 17 | 29556027 | 29556027 | A | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.1260+1G>T | NF1 | Pathogenic/Likely pathogenic | 17 | 29528504 | 29528504 | G | T | criteria provided, multiple submitters, no conflicts | - |
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