神経線維腫症II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_000268.4(NF2):c.240+1G>T	NF2	Pathogenic	22	30032866	30032866	G	T	criteria provided, single submitter	OMIM:607379.0002,ClinGen:CA021419
single nucleotide variant	NM_000268.4(NF2):c.169C>T (p.Arg57Ter)	NF2	Pathogenic	22	30032794	30032794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021370,OMIM:607379.0004
single nucleotide variant	NM_000268.4(NF2):c.784C>T (p.Arg262Ter)	NF2	Pathogenic	22	30057302	30057302	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021439,OMIM:607379.0009
single nucleotide variant	NM_000268.4(NF2):c.1021C>T (p.Arg341Ter)	NF2	Pathogenic	22	30067836	30067836	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021277,OMIM:607379.0011
single nucleotide variant	NM_000268.4(NF2):c.1219C>T (p.Gln407Ter)	NF2	Pathogenic	22	30069354	30069354	C	T	criteria provided, single submitter	ClinGen:CA021304,OMIM:607379.0012
single nucleotide variant	NM_000268.4(NF2):c.1387G>T (p.Glu463Ter)	NF2	Pathogenic	22	30070871	30070871	G	T	criteria provided, single submitter	ClinGen:CA021321,OMIM:607379.0013
single nucleotide variant	NM_000268.4(NF2):c.1396C>T (p.Arg466Ter)	NF2	Pathogenic	22	30070880	30070880	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021327,OMIM:607379.0014
single nucleotide variant	NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)	NF2	Pathogenic	22	30077432	30077432	G	T	criteria provided, single submitter	ClinGen:CA021349,OMIM:607379.0015
single nucleotide variant	NM_000268.4(NF2):c.810+1G>A	NF2	Pathogenic/Likely pathogenic	22	30057329	30057329	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021446
single nucleotide variant	NM_000268.4(NF2):c.1627A>T (p.Lys543Ter)	NF2	Pathogenic	22	30077480	30077480	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583924