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
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.655G>A (p.Val219Met)	NF2	Likely pathogenic	22	30054233	30054233	G	A	criteria provided, single submitter	ClinGen:CA411143093
Duplication	NC_000022.10:g.(?_30077422)_(30077596_?)dup	NF2	Likely pathogenic	22	30077422	30077596	na	na	criteria provided, single submitter	-
Indel	NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs)	NF2	Likely pathogenic	22	30000045	30000048	AAGA	GT	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	-
Duplication	NM_000268.4(NF2):c.1507dup (p.Asp503fs)	NF2	Likely pathogenic	22	30074244	30074245	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.1737+2T>A	NF2	Likely pathogenic	22	30077592	30077592	T	A	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.1446+1G>A	NF2	Likely pathogenic	22	30070931	30070931	G	A	criteria provided, single submitter	-

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