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.82C>T (p.Gln28Ter)	NF1	Pathogenic	17	29483022	29483022	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988142
Deletion	NM_001042492.3(NF1):c.99del (p.Val34fs)	NF1	Pathogenic	17	29483037	29483037	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615134
single nucleotide variant	NM_001042492.3(NF1):c.97A>T (p.Lys33Ter)	NF1	Pathogenic	17	29483037	29483037	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.121G>T (p.Glu41Ter)	NF1	Pathogenic	17	29483061	29483061	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.122A>T (p.Glu41Val)	NF1	Likely pathogenic	17	29483062	29483062	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)	NF1	Pathogenic/Likely pathogenic	17	29483068	29483068	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988394
Insertion	NM_000267.3(NF1):c.129_130ins568 (p.?)	NF1	Pathogenic	17	29483069	29483070	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.154del (p.Ser52fs)	NF1	Pathogenic	17	29483091	29483091	GT	G	criteria provided, single submitter	ClinGen:CA645369657
single nucleotide variant	NM_001042492.3(NF1):c.173T>C (p.Leu58Pro)	NF1	Likely pathogenic	17	29483113	29483113	T	C	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.181dup (p.Ile61fs)	NF1	Pathogenic	17	29483120	29483121	T	TA	criteria provided, single submitter	ClinGen:CA658798747