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
Deletion	NM_001042492.3(NF1):c.2149del (p.Ala717fs)	NF1	Pathogenic	17	29553600	29553600	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2325+2T>C	NF1	Pathogenic	17	29554311	29554311	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter)	NF1	Pathogenic	17	29556143	29556143	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2850G>A (p.Gln950=)	NF1	Pathogenic	17	29556483	29556483	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2975T>A (p.Met992Lys)	NF1	Likely pathogenic	17	29556977	29556977	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2990+1G>T	NF1	Pathogenic	17	29556993	29556993	G	T	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.3677dup (p.Leu1227fs)	NF1	Pathogenic	17	29560199	29560200	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)	NF1	Pathogenic/Likely pathogenic	17	29652882	29652882	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.5431_5449del (p.Thr1811fs)	NF1	Pathogenic	17	29654679	29654697	CACCTTCATGCACCAGGAGT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5610-1G>C	NF1	Pathogenic	17	29657313	29657313	G	C	criteria provided, multiple submitters, no conflicts	-