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.817del (p.Leu273fs)	NF1	Likely pathogenic	17	29509612	29509612	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.888+1G>A	NF1	Pathogenic	17	29509684	29509684	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)	NF1	Pathogenic	17	29527494	29527494	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.988del (p.Ala330fs)	NF1	Likely pathogenic	17	29527539	29527539	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.989C>T (p.Ala330Val)	NF1	Pathogenic/Likely pathogenic	17	29527540	29527540	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1063-1G>C	NF1	Pathogenic/Likely pathogenic	17	29528054	29528054	G	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)	NF1	Likely pathogenic	17	29528065	29528066	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.1077del (p.Pro360fs)	NF1	Likely pathogenic	17	29528069	29528069	AT	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)	NF1	Likely pathogenic	17	29528093	29528096	GCAGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1237T>C (p.Ser413Pro)	NF1	Pathogenic/Likely pathogenic	17	29528480	29528480	T	C	criteria provided, multiple submitters, no conflicts	-