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.590C>G (p.Thr197Arg)	NF1	Likely pathogenic	17	29508443	29508443	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2991-3T>G	NF1	Likely pathogenic	17	29557275	29557275	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2409+1G>A	NF1	Pathogenic	17	29554625	29554625	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2326-1G>A	NF1	Pathogenic	17	29554540	29554540	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1642-3C>G	NF1	Pathogenic	17	29548865	29548865	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1260+5G>A	NF1	Pathogenic	17	29528508	29528508	G	A	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.1260+2dup	NF1	Likely pathogenic	17	29528504	29528505	G	GT	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_29540877)_(29563299_?)dup	NF1	Likely pathogenic	17	29540877	29563299	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31169881)_(31374165_?)del	NF1	Pathogenic	17	29496899	29701183	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.6704+1del	NF1	Pathogenic/Likely pathogenic	17	29664898	29664898	AG	A	criteria provided, multiple submitters, no conflicts	-