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.1737+2T>A	NF2	Likely pathogenic	22	30077592	30077592	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.1737+1G>T	NF2	Pathogenic	22	30077591	30077591	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411150555
single nucleotide variant	NM_000268.4(NF2):c.1646T>A (p.Leu549Ter)	NF2	Pathogenic	22	30077499	30077499	T	A	criteria provided, single submitter	-
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
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
Duplication	NC_000022.10:g.(?_30077422)_(30077596_?)dup	NF2	Likely pathogenic	22	30077422	30077596	na	na	criteria provided, single submitter	-
Duplication	NM_000268.4(NF2):c.1507dup (p.Asp503fs)	NF2	Likely pathogenic	22	30074244	30074245	T	TG	criteria provided, single submitter	-
Deletion	NM_000268.4(NF2):c.1447-2del	NF2	Pathogenic	22	30074183	30074183	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.1446+1G>A	NF2	Likely pathogenic	22	30070931	30070931	G	A	criteria provided, single submitter	-
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