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
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)	NF1	Pathogenic/Likely pathogenic	17	29554554	29554554	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398983055
single nucleotide variant	NM_001042492.3(NF1):c.2894T>G (p.Ile965Arg)	NF1	Likely pathogenic	17	29556896	29556896	T	G	criteria provided, single submitter	ClinGen:CA398986108
single nucleotide variant	NM_001042492.3(NF1):c.2991-1G>C	NF1	Pathogenic	17	29557277	29557277	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398986497
single nucleotide variant	NM_001042492.3(NF1):c.3113+5G>A	NF1	Pathogenic	17	29557405	29557405	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656563
single nucleotide variant	NM_001042492.3(NF1):c.3142T>G (p.Trp1048Gly)	NF1	Pathogenic	17	29557888	29557888	T	G	criteria provided, single submitter	ClinGen:CA398987981
single nucleotide variant	NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)	NF1	Pathogenic/Likely pathogenic	17	29483068	29483068	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988394
Duplication	NM_001042492.3(NF1):c.3214dup (p.Ser1072fs)	NF1	Pathogenic	17	29559105	29559106	C	CA	criteria provided, single submitter	ClinGen:CA658656574
Deletion	NM_001042492.3(NF1):c.952del (p.Glu318fs)	NF1	Pathogenic	17	29527503	29527503	AG	A	criteria provided, single submitter	ClinGen:CA658656564
single nucleotide variant	NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro)	NF1	Pathogenic/Likely pathogenic	17	29528131	29528131	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997077
single nucleotide variant	NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)	NF1	Likely pathogenic	17	29559830	29559830	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989230