神経線維腫症II型

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NC_000022.11:g.(?_29636741)_(29639222_?)del	NF2	Pathogenic	22	30032730	30035211	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.432C>G (p.Tyr144Ter)	NF2	Pathogenic	22	30038259	30038259	C	G	criteria provided, single submitter	ClinGen:CA16616357
Deletion	NC_000022.11:g.(?_29642196)_(29642291_?)del	NF2	Pathogenic	22	30038185	30038280	na	na	criteria provided, single submitter	-
Duplication	NM_000268.4(NF2):c.461_479dup (p.Gly161fs)	NF2	Pathogenic	22	30050656	30050657	A	ACGACCCCAGTGTTCACAAG	criteria provided, single submitter	-
Deletion	NM_000268.4(NF2):c.465del (p.Ser156fs)	NF2	Likely pathogenic	22	30050660	30050660	AC	A	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.516+2T>G	NF2	Pathogenic	22	30050716	30050716	T	G	criteria provided, single submitter	-
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.517-1G>A	NF2	Pathogenic	22	30051582	30051582	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621094
Deletion	NM_000268.4(NF2):c.517-92_568del	NF2	Pathogenic	22	30051485	30051628	TTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	T	criteria provided, single submitter	-