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.3314+1G>A	NF1	Pathogenic	17	29559208	29559208	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7870-1G>A	NF1	Pathogenic	17	29684286	29684286	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3361G>T (p.Glu1121Ter)	NF1	Pathogenic	17	29559764	29559764	G	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3384del (p.Gly1129fs)	NF1	Pathogenic	17	29559787	29559787	GT	G	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.3657dup (p.Glu1220fs)	NF1	Pathogenic	17	29560179	29560180	G	GA	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4456del (p.Cys1486fs)	NF1	Pathogenic	17	29587411	29587411	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)	NF1	Pathogenic/Likely pathogenic	17	29587512	29587512	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.4617_4630dup (p.Ala1544fs)	NF1	Pathogenic	17	29588767	29588768	T	TGGCAACACTTCTTG	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4711G>T (p.Glu1571Ter)	NF1	Pathogenic	17	29588862	29588862	G	T	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.5427dup (p.Leu1810fs)	NF1	Pathogenic	17	29654674	29654675	C	CG	criteria provided, single submitter	-