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.5533dup (p.Ile1845fs)	NF1	Pathogenic	17	29654780	29654781	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter)	NF1	Pathogenic	17	29654854	29654854	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.5669_5690del (p.Gly1890fs)	NF1	Pathogenic	17	29657370	29657391	GAGGGCCAGTTACTAGAGACATC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5680G>T (p.Glu1894Ter)	NF1	Pathogenic	17	29657384	29657384	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5771T>A (p.Leu1924Ter)	NF1	Pathogenic	17	29657475	29657475	T	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5802del (p.Phe1934fs)	NF1	Pathogenic	17	29657504	29657504	AT	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5971_5978del (p.Ile1992fs)	NF1	Pathogenic	17	29662012	29662019	CCATCTATT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.6341_6342del (p.Gly2114fs)	NF1	Pathogenic	17	29663846	29663847	GGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6436A>T (p.Lys2146Ter)	NF1	Pathogenic	17	29664394	29664394	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6439C>T (p.Gln2147Ter)	NF1	Pathogenic	17	29664397	29664397	C	T	criteria provided, multiple submitters, no conflicts	-