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.3G>A (p.Met1Ile) | NF1 | Pathogenic | 17 | 29422330 | 29422330 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.2T>A (p.Met1Lys) | NF1 | Pathogenic/Likely pathogenic | 17 | 29422329 | 29422329 | T | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001042492.3(NF1):c.2T>G (p.Met1Arg) | NF1 | Pathogenic | 17 | 29422329 | 29422329 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA398979149 |
single nucleotide variant | NM_001042492.3(NF1):c.2T>C (p.Met1Thr) | NF1 | Pathogenic | 17 | 29422329 | 29422329 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603591 |
single nucleotide variant | NM_001042492.3(NF1):c.1A>G (p.Met1Val) | NF1 | Pathogenic | 17 | 29422328 | 29422328 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615129 |