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.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
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
Deletion	NM_000268.4(NF2):c.1346_1347del (p.Lys449fs)	NF2	Pathogenic	22	30070829	30070830	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658912
Deletion	NC_000022.11:g.(?_29673259)_(29673496_?)del	NF2	Pathogenic	22	30069248	30069485	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.1228C>T (p.Gln410Ter)	NF2	Pathogenic	22	30069363	30069363	C	T	criteria provided, single submitter	ClinGen:CA411148247
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.1122+1G>A	NF2	Pathogenic	22	30067938	30067938	G	A	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_29668333)_(29671948_?)del	NF2	Likely pathogenic	22	30064322	30067937	na	na	criteria provided, single submitter	-
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