Total 4 pathogenic variants reported for Neurofibromatosis type 1

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001042492.3(NF1):c.1523T>C (p.Leu508Pro)	SNV Germline	Chr17:31214581	Pathogenic/Likely pathogenic	Neurofibromatosis, type 1 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	Criteria Provided Multiple Submitters No Conflicts	CA251467	rs_137854558	3 SubmittersRCV000000383 RCV006249544
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)	SNV Germline	Chr17:31236021	Pathogenic/Likely pathogenic	Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA338737	rs_863224447	6 SubmittersRCV000199605 RCV002318958 RCV002515460 RCV004700596
NM_001042492.3(NF1):c.3301C>T (p.Gln1101Ter)	SNV Germline	Chr17:31232176	Pathogenic	Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Mosaic neurofibromatosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA398988914	rs_2151433888	4 SubmittersRCV001387498 RCV002322369 RCV006258570