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.6211C>T (p.Gln2071Ter)	NF1	Pathogenic	17	29663716	29663716	C	T	criteria provided, single submitter	ClinGen:CA399011917
single nucleotide variant	NM_001042492.3(NF1):c.6428-2A>C	NF1	Pathogenic	17	29664384	29664384	A	C	criteria provided, single submitter	ClinGen:CA399012980
Duplication	NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)	NF1	Pathogenic/Likely pathogenic	17	29664419	29664420	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373104
single nucleotide variant	NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)	NF1	Likely pathogenic	17	29665157	29665157	G	T	criteria provided, single submitter	ClinGen:CA399014225
single nucleotide variant	NM_001042492.3(NF1):c.6819+2T>C	NF1	Pathogenic	17	29665159	29665159	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399014230
single nucleotide variant	NM_001042492.3(NF1):c.7062+2T>C	NF1	Pathogenic	17	29667665	29667665	T	C	criteria provided, single submitter	ClinGen:CA399015296
single nucleotide variant	NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg)	NF1	Likely pathogenic	17	29670145	29670145	T	G	criteria provided, single submitter	ClinGen:CA399015773
single nucleotide variant	NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)	NF1	Pathogenic/Likely pathogenic	17	29670153	29670153	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399015790
Deletion	NM_001042492.3(NF1):c.7287del (p.Phe2429fs)	NF1	Pathogenic	17	29676233	29676233	AT	A	criteria provided, single submitter	ClinGen:CA645373111
single nucleotide variant	NM_001042492.3(NF1):c.7321+1G>T	NF1	Likely pathogenic	17	29676270	29676270	G	T	criteria provided, single submitter	ClinGen:CA399016932