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

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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
Indel	NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs)	NF2	Likely pathogenic	22	30000045	30000048	AAGA	GT	criteria provided, single submitter	-
Duplication	NM_000268.4(NF2):c.69dup (p.Val24fs)	NF2	Pathogenic	22	30000054	30000055	A	AC	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.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.169C>T (p.Arg57Ter)	NF2	Pathogenic	22	30032794	30032794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021370,OMIM:607379.0004
single nucleotide variant	NM_000268.4(NF2):c.180G>A (p.Trp60Ter)	NF2	Pathogenic	22	30032805	30032805	G	A	criteria provided, single submitter	ClinGen:CA411152548
single nucleotide variant	NM_000268.4(NF2):c.240+1G>T	NF2	Pathogenic	22	30032866	30032866	G	T	criteria provided, single submitter	OMIM:607379.0002,ClinGen:CA021419
Deletion	NM_000268.4(NF2):c.273del (p.Val92fs)	NF2	Pathogenic	22	30035111	30035111	CA	C	criteria provided, single submitter	ClinGen:CA658656825
Deletion	NC_000022.11:g.(?_29639090)_(29639212_?)del	NF2	Likely pathogenic	22	30035079	30035201	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.363+1G>A	NF2	Pathogenic	22	30035202	30035202	G	A	criteria provided, single submitter	-

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