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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.3104T>A (p.Met1035Lys) | NF1 | Pathogenic/Likely pathogenic | 17 | 29557391 | 29557391 | T | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) | NF1 | Pathogenic/Likely pathogenic | 17 | 29556992 | 29556992 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) | NF1 | Pathogenic/Likely pathogenic | 17 | 29554544 | 29554544 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg) | NF1 | Pathogenic/Likely pathogenic | 17 | 29553702 | 29553702 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.972T>A (p.Cys324Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29527523 | 29527523 | T | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) | NF1 | Pathogenic/Likely pathogenic | 17 | 29509603 | 29509603 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.412G>C (p.Ala138Pro) | NF1 | Pathogenic/Likely pathogenic | 17 | 29490327 | 29490327 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) | NF1 | Pathogenic/Likely pathogenic | 17 | 29486071 | 29486071 | A | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001042492.3(NF1):c.61-7486G>T | NF1 | Pathogenic/Likely pathogenic | 17 | 29475515 | 29475515 | G | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001042492.3(NF1):c.5516del (p.Ile1839fs) | NF1 | Pathogenic/Likely pathogenic | 17 | 29654764 | 29654764 | AT | A | criteria provided, multiple submitters, no conflicts | - |
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