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
Duplication	NM_001042492.3(NF1):c.7409dup (p.Asn2470fs)	NF1	Pathogenic	17	29677284	29677285	G	GA	criteria provided, single submitter	ClinGen:CA645373114
single nucleotide variant	NM_001042492.3(NF1):c.569T>G (p.Leu190Ter)	NF1	Pathogenic	17	29496998	29496998	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398985389
Duplication	NM_001042492.3(NF1):c.950_953dup (p.Glu318fs)	NF1	Pathogenic	17	29527498	29527499	T	TGACA	criteria provided, single submitter	ClinGen:CA645373076
single nucleotide variant	NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter)	NF1	Pathogenic	17	29527590	29527590	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398996436
single nucleotide variant	NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)	NF1	Pathogenic/Likely pathogenic	17	29548947	29548947	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399002388
single nucleotide variant	NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)	NF1	Pathogenic/Likely pathogenic	17	29559132	29559132	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988757
single nucleotide variant	NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter)	NF1	Pathogenic	17	29559852	29559852	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989316
single nucleotide variant	NM_001042492.3(NF1):c.6007-1G>C	NF1	Pathogenic/Likely pathogenic	17	29663350	29663350	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010993
single nucleotide variant	NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)	NF1	Likely pathogenic	17	29685499	29685499	C	T	criteria provided, single submitter	ClinGen:CA399203584
single nucleotide variant	NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)	NF1	Pathogenic/Likely pathogenic	17	29559143	29559143	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988796