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.4578-1G>C	NF1	Pathogenic/Likely pathogenic	17	29588728	29588728	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399000079
single nucleotide variant	NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter)	NF1	Pathogenic	17	29661899	29661899	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010649
single nucleotide variant	NM_001042492.3(NF1):c.5880C>A (p.Cys1960Ter)	NF1	Pathogenic	17	29661923	29661923	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010700
single nucleotide variant	NM_001042492.3(NF1):c.6006+1G>A	NF1	Pathogenic	17	29662050	29662050	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010982
single nucleotide variant	NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)	NF1	Pathogenic	17	29663730	29663730	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399011996
single nucleotide variant	NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)	NF1	Pathogenic/Likely pathogenic	17	29664868	29664868	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399013829
single nucleotide variant	NM_001042492.3(NF1):c.7615+1G>T	NF1	Pathogenic	17	29679433	29679433	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399017904
single nucleotide variant	NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)	NF1	Pathogenic	17	29496970	29496970	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398985168
single nucleotide variant	NM_001042492.3(NF1):c.889-1G>C	NF1	Pathogenic	17	29527439	29527439	G	C	criteria provided, single submitter	ClinGen:CA398995476
single nucleotide variant	NM_001042492.3(NF1):c.1393-2A>G	NF1	Pathogenic/Likely pathogenic	17	29541467	29541467	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399001399