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.1003G>T (p.Glu335Ter)	NF2	Pathogenic	22	30067818	30067818	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.999+1G>A	NF2	Pathogenic	22	30064436	30064436	G	A	criteria provided, single submitter	-
Deletion	NM_000268.4(NF2):c.970del (p.Gln324fs)	NF2	Pathogenic	22	30064404	30064404	GC	G	criteria provided, single submitter	ClinGen:CA658799533
Deletion	NC_000022.11:g.(?_29636741)_(29661349_?)del	NF2	Pathogenic	22	30032730	30057338	na	na	criteria provided, single submitter	-
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.798C>G (p.Tyr266Ter)	NF2	Pathogenic	22	30057316	30057316	C	G	criteria provided, single submitter	ClinGen:CA411144163
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
Deletion	NM_000268.4(NF2):c.738_756del (p.Glu247fs)	NF2	Pathogenic	22	30057253	30057271	ACCCTGAGAACAGACTGACC	A	criteria provided, single submitter	ClinGen:CA658658911
single nucleotide variant	NM_000268.4(NF2):c.676-2A>G	NF2	Pathogenic	22	30057192	30057192	A	G	criteria provided, single submitter	ClinGen:CA16616366
single nucleotide variant	NM_000268.4(NF2):c.675+1G>A	NF2	Likely pathogenic	22	30054254	30054254	G	A	criteria provided, single submitter	-