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.517-2A>G	NF2	Pathogenic	22	30051581	30051581	A	G	criteria provided, single submitter	ClinGen:CA16616358
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.517-1G>A	NF2	Pathogenic	22	30051582	30051582	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621094
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
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.122G>A (p.Trp41Ter)	NF2	Pathogenic	22	30032747	30032747	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411152423
single nucleotide variant	NM_000268.4(NF2):c.675+1G>C	NF2	Pathogenic	22	30054254	30054254	G	C	criteria provided, single submitter	ClinGen:CA411143139
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
single nucleotide variant	NM_000268.4(NF2):c.592C>T (p.Arg198Ter)	NF2	Pathogenic	22	30051658	30051658	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411142708
Insertion	NM_000268.4(NF2):c.656_657insA (p.Asn220fs)	NF2	Pathogenic	22	30054234	30054235	T	TA	criteria provided, single submitter	ClinGen:CA658656829