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
Duplication	NM_001042492.3(NF1):c.7970+2dup	NF1	Likely pathogenic	17	29684388	29684389	G	GT	criteria provided, single submitter	-
Deletion	NM_000267.3(NF1):c.7128delG	NF1	Pathogenic	17	29676137	29676137	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5812+4A>T	NF1	Pathogenic	17	29657520	29657520	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5609+5G>A	NF1	Pathogenic	17	29654862	29654862	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4332+1G>T	NF1	Pathogenic	17	29585521	29585521	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2410-12T>G	NF1	Pathogenic/Likely pathogenic	17	29556031	29556031	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1642-2A>T	NF1	Pathogenic	17	29548866	29548866	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1185+5G>C	NF1	Pathogenic	17	29528182	29528182	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.288+5G>A	NF1	Pathogenic/Likely pathogenic	17	29486116	29486116	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.205-2A>G	NF1	Pathogenic	17	29486026	29486026	A	G	criteria provided, multiple submitters, no conflicts	-