List of variants reported as pathogenic for Neurofibromatosis, type 1; Tibial pseudoarthrosis by The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

Download table as spreadsheet

HGVS	dbSNP
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys)	rs137854557
NM_000267.3(NF1):c.1603C>T (p.Gln535Ter)	rs1567843917
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg)	rs199474738
NM_000267.3(NF1):c.2033dup (p.Ile679fs)	rs587781807
NM_000267.3(NF1):c.3113+1G>A	rs267606599
NM_000267.3(NF1):c.3712G>T (p.Glu1238Ter)	rs1060500346
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter)	rs376576925
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter)	rs760703505
NM_000267.3(NF1):c.503C>G (p.Ser168Ter)	rs1131691994
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter)	rs137854552
NM_000267.3(NF1):c.654+1G>A	rs1060500245
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter)	rs876658541
NM_000267.3(NF1):c.7096_7101del	rs864622639
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter)	rs786201367
NM_001042492.3(NF1):c.1017_1018CT[1] (p.Ser340fs)	rs1555610903
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)	rs1597682751
NM_001042492.3(NF1):c.1992dup (p.Ser665fs)	rs1597710824
NM_001042492.3(NF1):c.2019C>A (p.Cys673Ter)	rs146624509
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)	rs1597712392
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)	rs1597635615
NM_001042492.3(NF1):c.2947del (p.His982_Leu983insTer)	rs1597716380
NM_001042492.3(NF1):c.3187_3188insTA (p.Cys1063fs)	rs1597717684
NM_001042492.3(NF1):c.4756_4772del (p.Ala1586fs)	rs1597753208
NM_001042492.3(NF1):c.495_498TGTT[1] (p.Cys167fs)	rs786201874
NM_001042492.3(NF1):c.5046delinsGGTTAC (p.Cys1682fs)	rs1597829913
NM_001042492.3(NF1):c.5130del (p.Cys1711fs)	rs1597830078
NM_001042492.3(NF1):c.5199dup (p.Glu1734fs)	rs1597830232
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter)	rs1597832043
NM_001042492.3(NF1):c.5697T>A (p.Cys1899Ter)	rs1597834760
NM_001042492.3(NF1):c.5980_5983del (p.Ala1994fs)	rs1597840291
NM_001042492.3(NF1):c.6399_6400GT[1] (p.Cys2134fs)	rs1597843186
NM_001042492.3(NF1):c.643del (p.Ser215fs)	rs1597658192
NM_001042492.3(NF1):c.6819+2_6826del	rs1597845213
NM_001042492.3(NF1):c.6854dup (p.Tyr2285Ter)	rs876657715
NM_001042492.3(NF1):c.731-2A>C	rs1555608924
NM_001042492.3(NF1):c.786_787insTT (p.Lys263fs)	rs1597659879
NM_001042492.3(NF1):c.7898del (p.Glu2633fs)	rs1597866854

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.