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.1642-1G>A	NF1	Pathogenic	17	29548867	29548867	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)	NF1	Pathogenic/Likely pathogenic	17	29548886	29548886	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1845+2T>C	NF1	Likely pathogenic	17	29550587	29550587	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)	NF1	Pathogenic/Likely pathogenic	17	29552113	29552113	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.2035dup (p.Ile679fs)	NF1	Likely pathogenic	17	29553485	29553486	G	GA	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.2187dup (p.Asn730Ter)	NF1	Likely pathogenic	17	29553637	29553638	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2252-2A>C	NF1	Pathogenic	17	29554234	29554234	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2252-1G>T	NF1	Likely pathogenic	17	29554235	29554235	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter)	NF1	Likely pathogenic	17	29554253	29554253	A	T	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs)	NF1	Likely pathogenic	17	29554292	29554293	A	ACTGCAGG	criteria provided, single submitter	-