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.1646T>A (p.Leu549Ter)	NF2	Pathogenic	22	30077499	30077499	T	A	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_29636741)_(29639222_?)del	NF2	Pathogenic	22	30032730	30035211	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_29603989)_(29604122_?)del	NF2	Pathogenic	22	29999978	30000111	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.516+1G>A	NF2	Pathogenic	22	30050715	30050715	G	A	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	-
Deletion	NM_000268.4(NF2):c.517-92_568del	NF2	Pathogenic	22	30051485	30051628	TTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	T	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_29603989)_(29681611_?)del	NF2	Pathogenic	22	29999978	30077600	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_29673259)_(29673496_?)del	NF2	Pathogenic	22	30069248	30069485	na	na	criteria provided, single submitter	-