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.1642-449A>G	NF1	Pathogenic/Likely pathogenic	17	29548419	29548419	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA337564
single nucleotide variant	NM_001042492.3(NF1):c.1713G>A (p.Trp571Ter)	NF1	Pathogenic	17	29548939	29548939	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337698
single nucleotide variant	NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)	NF1	Pathogenic/Likely pathogenic	17	29554272	29554272	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA336482
single nucleotide variant	NM_001042492.3(NF1):c.2850G>C (p.Gln950His)	NF1	Likely pathogenic	17	29556483	29556483	G	C	criteria provided, single submitter	ClinGen:CA337604
single nucleotide variant	NM_001042492.3(NF1):c.3113+1G>T	NF1	Pathogenic	17	29557401	29557401	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339278
Deletion	NM_001042492.3(NF1):c.3139_3140del (p.Asp1047fs)	NF1	Pathogenic	17	29557884	29557885	CAG	C	criteria provided, single submitter	ClinGen:CA336457
single nucleotide variant	NM_001042492.3(NF1):c.3314+2T>A	NF1	Pathogenic	17	29559209	29559209	T	A	criteria provided, single submitter	ClinGen:CA336004
single nucleotide variant	NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)	NF1	Pathogenic/Likely pathogenic	17	29563039	29563039	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338737
single nucleotide variant	NM_001042492.3(NF1):c.4546G>T (p.Glu1516Ter)	NF1	Pathogenic	17	29587502	29587502	G	T	criteria provided, single submitter	ClinGen:CA339196
single nucleotide variant	NM_001042492.3(NF1):c.5812+332A>G	NF1	Pathogenic	17	29657848	29657848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA336915