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.(?_29642196)_(29642291_?)del	NF2	Pathogenic	22	30038185	30038280	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.999+1G>A	NF2	Pathogenic	22	30064436	30064436	G	A	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_29636741)_(29661349_?)del	NF2	Pathogenic	22	30032730	30057338	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.675+1G>A	NF2	Likely pathogenic	22	30054254	30054254	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.1122+1G>A	NF2	Pathogenic	22	30067938	30067938	G	A	criteria provided, single submitter	-
Deletion	NM_000268.4(NF2):c.583_589del (p.His195fs)	NF2	Pathogenic	22	30051646	30051652	AGAGCACC	A	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	-
single nucleotide variant	NM_000268.4(NF2):c.363+1G>A	NF2	Pathogenic	22	30035202	30035202	G	A	criteria provided, single submitter	-
Duplication	NM_000268.4(NF2):c.69dup (p.Val24fs)	NF2	Pathogenic	22	30000054	30000055	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.658A>T (p.Asn220Tyr)	NF2	Pathogenic	22	30054236	30054236	A	T	criteria provided, multiple submitters, no conflicts	-

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