結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

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
single nucleotide variant	NM_000548.5(TSC2):c.4711T>C (p.Tyr1571His)	TSC2	Likely pathogenic	16	2136242	2136242	T	C	criteria provided, single submitter	ClinGen:CA394307381
single nucleotide variant	NM_000368.5(TSC1):c.2866C>T (p.Gln956Ter)	TSC1	Pathogenic	9	135772680	135772680	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2656A>T (p.Lys886Ter)	TSC1	Pathogenic	9	135772967	135772967	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.1946+1G>T	TSC2	Pathogenic	16	2121618	2121618	G	T	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs)	TSC1	Likely pathogenic	9	135781179	135781183	AAGCCC	A	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs)	TSC1	Likely pathogenic	9	135786850	135786856	TTCAGTTA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)	TSC1	Pathogenic/Likely pathogenic	9	135786887	135786887	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000368.5(TSC1):c.509-1G>A	TSC1	Likely pathogenic	9	135797361	135797361	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.649-1G>A	TSC2	Likely pathogenic	16	2106644	2106644	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000548.5(TSC2):c.2772del (p.Phe924fs)	TSC2	Pathogenic/Likely pathogenic	16	2126518	2126518	CT	C	criteria provided, multiple submitters, no conflicts	-

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