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.8158A>T (p.Lys2720Ter)	NF1	Pathogenic	17	29686031	29686031	A	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.8205_8214del (p.Asp2736fs)	NF1	Pathogenic	17	29687549	29687558	TTGATGCCTTG	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31155963)_(31374175_?)del	NF1	Pathogenic	17	29482981	29701193	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31200422)_(31265339_?)del	NF1	Pathogenic	17	29527440	29592357	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31218995)_(31374165_?)del	NF1	Pathogenic	17	29546013	29701183	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.205-2A>G	NF1	Pathogenic	17	29486026	29486026	A	G	criteria provided, multiple submitters, no conflicts	-
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.1185+5G>C	NF1	Pathogenic	17	29528182	29528182	G	C	criteria provided, single submitter	-
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.2410-12T>G	NF1	Pathogenic/Likely pathogenic	17	29556031	29556031	T	G	criteria provided, multiple submitters, no conflicts	-