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.298del (p.Asp100fs)	NF1	Pathogenic	17	29490212	29490212	AG	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.328del (p.Val110fs)	NF1	Pathogenic	17	29490242	29490242	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.557A>T (p.Asp186Val)	NF1	Likely pathogenic	17	29496986	29496986	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.668G>A (p.Trp223Ter)	NF1	Pathogenic	17	29508741	29508741	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.681T>A (p.Tyr227Ter)	NF1	Pathogenic	17	29508754	29508754	T	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.750del (p.Phe250fs)	NF1	Pathogenic	17	29509543	29509543	AT	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.988_995del (p.Ala330fs)	NF1	Pathogenic	17	29527539	29527546	AGCAAGTAC	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.997del (p.Tyr333fs)	NF1	Pathogenic	17	29527547	29527547	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1393-2A>T	NF1	Pathogenic	17	29541467	29541467	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter)	NF1	Pathogenic	17	29550505	29550505	C	T	criteria provided, multiple submitters, no conflicts	-