Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) | NF1 | Pathogenic | 17 | 29546036 | 29546037 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA190564,OMIM:613113.0014 |
single nucleotide variant | NM_001042492.3(NF1):c.3113+1G>A | NF1 | Pathogenic | 17 | 29557401 | 29557401 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA251454,OMIM:613113.0013 |
single nucleotide variant | NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) | NF1 | Pathogenic | 17 | 29576111 | 29576111 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA325494,OMIM:613113.0027 |
single nucleotide variant | NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) | NF1 | Pathogenic | 17 | 29661945 | 29661945 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA325489,OMIM:613113.0012 |
single nucleotide variant | NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) | NF1 | Pathogenic | 17 | 29585518 | 29585518 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA251440,OMIM:613113.0005 |