神経線維腫症II型 - MGenReviews

神経線維腫症II型

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.(?_29639090)_(29639212_?)del	NF2	Likely pathogenic	22	30035079	30035201	na	na	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.432C>G (p.Tyr144Ter)	NF2	Pathogenic	22	30038259	30038259	C	G	criteria provided, single submitter	ClinGen:CA16616357
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.655G>A (p.Val219Met)	NF2	Likely pathogenic	22	30054233	30054233	G	A	criteria provided, single submitter	ClinGen:CA411143093

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