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	NC_000017.11:g.(?_31095304)_(31374161_?)del	NF1	Pathogenic	17	29422322	29701179	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.569del (p.Lys189_Leu190insTer)	NF1	Pathogenic	17	29496997	29496997	AT	A	criteria provided, single submitter	ClinGen:CA658798768
Deletion	NM_001042492.3(NF1):c.594del (p.Phe199fs)	NF1	Pathogenic	17	29508447	29508447	CA	C	criteria provided, single submitter	ClinGen:CA658798742
single nucleotide variant	NM_001042492.3(NF1):c.1260+2T>G	NF1	Pathogenic/Likely pathogenic	17	29528505	29528505	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997819
Duplication	NM_001042492.3(NF1):c.1423dup (p.Leu475fs)	NF1	Pathogenic	17	29541497	29541498	G	GC	criteria provided, single submitter	ClinGen:CA658798762
single nucleotide variant	NM_001042492.3(NF1):c.2786T>G (p.Leu929Arg)	NF1	Pathogenic	17	29556419	29556419	T	G	criteria provided, single submitter	ClinGen:CA398985610
Deletion	NM_001042492.3(NF1):c.2870del (p.Asn957fs)	NF1	Pathogenic	17	29556871	29556871	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798756
single nucleotide variant	NM_001042492.3(NF1):c.2990+5G>A	NF1	Pathogenic/Likely pathogenic	17	29556997	29556997	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658761047
Duplication	NM_001042492.3(NF1):c.3431_3432dup (p.Thr1145fs)	NF1	Pathogenic	17	29559832	29559833	C	CTG	criteria provided, single submitter	ClinGen:CA658798775
Deletion	NM_001042492.3(NF1):c.4070del (p.Phe1357fs)	NF1	Pathogenic/Likely pathogenic	17	29576096	29576096	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798795