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
single nucleotide variant	NM_000268.4(NF2):c.675+1G>C	NF2	Pathogenic	22	30054254	30054254	G	C	criteria provided, single submitter	ClinGen:CA411143139
Deletion	NM_000268.4(NF2):c.1346_1347del (p.Lys449fs)	NF2	Pathogenic	22	30070829	30070830	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658912
Duplication	NC_000022.10:g.(?_30077422)_(30077596_?)dup	NF2	Likely pathogenic	22	30077422	30077596	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.592C>T (p.Arg198Ter)	NF2	Pathogenic	22	30051658	30051658	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411142708
single nucleotide variant	NM_000268.4(NF2):c.599+1G>T	NF2	Pathogenic/Likely pathogenic	22	30051666	30051666	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411142734
Insertion	NM_000268.4(NF2):c.656_657insA (p.Asn220fs)	NF2	Pathogenic	22	30054234	30054235	T	TA	criteria provided, single submitter	ClinGen:CA658656829
single nucleotide variant	NM_000268.4(NF2):c.586C>T (p.Arg196Ter)	NF2	Pathogenic	22	30051652	30051652	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411142679
Deletion	NM_000268.4(NF2):c.273del (p.Val92fs)	NF2	Pathogenic	22	30035111	30035111	CA	C	criteria provided, single submitter	ClinGen:CA658656825
single nucleotide variant	NM_000268.4(NF2):c.1737+1G>T	NF2	Pathogenic	22	30077591	30077591	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411150555
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

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