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.5297C>G (p.Ser1766Ter)	NF1	Pathogenic/Likely pathogenic	17	29654545	29654545	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399009005
Duplication	NM_001042492.3(NF1):c.5320_5324dup (p.Ser1776fs)	NF1	Pathogenic	17	29654566	29654567	T	TAGGGC	criteria provided, single submitter	ClinGen:CA658658550
single nucleotide variant	NM_001042492.3(NF1):c.5822T>A (p.Leu1941Ter)	NF1	Pathogenic	17	29661865	29661865	T	A	criteria provided, single submitter	ClinGen:CA399010567
Duplication	NM_001042492.3(NF1):c.6088dup (p.Val2030fs)	NF1	Pathogenic	17	29663430	29663431	A	AG	criteria provided, single submitter	ClinGen:CA658658559
Deletion	NM_001042492.3(NF1):c.6713_6715del (p.Phe2238_Gln2239delinsTer)	NF1	Pathogenic	17	29665051	29665053	TTCC	T	criteria provided, single submitter	ClinGen:CA658658589
single nucleotide variant	NM_001042492.3(NF1):c.7034T>G (p.Leu2345Ter)	NF1	Pathogenic	17	29667635	29667635	T	G	criteria provided, single submitter	ClinGen:CA399015134
Deletion	NC_000017.11:g.(?_31095304)_(31156132_?)del	NF1	Pathogenic	17	29422322	29483150	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.61-2A>G	NF1	Pathogenic/Likely pathogenic	17	29482999	29482999	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987994
single nucleotide variant	NM_001042492.3(NF1):c.288+5G>T	NF1	Pathogenic	17	29486116	29486116	G	T	criteria provided, single submitter	ClinGen:CA658658578
single nucleotide variant	NM_001042492.3(NF1):c.479+1G>A	NF1	Pathogenic	17	29490395	29490395	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982218