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.1721+1G>C	NF1	Pathogenic	17	29548948	29548948	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2410-1G>C	NF1	Pathogenic	17	29556042	29556042	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.7778del (p.Leu2593fs)	NF1	Pathogenic	17	29684015	29684015	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.122A>T (p.Glu41Val)	NF1	Likely pathogenic	17	29483062	29483062	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.7458-17T>G	NF1	Likely pathogenic	17	29679258	29679258	T	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs)	NF1	Pathogenic	17	29554566	29554567	GG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6166A>T (p.Lys2056Ter)	NF1	Pathogenic	17	29663671	29663671	A	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4332+1del	NF1	Pathogenic	17	29585520	29585520	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter)	NF1	Pathogenic	17	29685509	29685509	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter)	NF1	Pathogenic	17	29541543	29541543	T	A	criteria provided, single submitter	-