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.976-10C>A	TSC2	Likely pathogenic	16	2110661	2110661	C	A	criteria provided, single submitter	ClinGen:CA645373023
single nucleotide variant	NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter)	TSC2	Pathogenic	16	2121792	2121792	G	T	criteria provided, single submitter	ClinGen:CA394273590
Duplication	NM_000548.5(TSC2):c.4149dup (p.Lys1384fs)	TSC2	Pathogenic	16	2134371	2134372	G	GC	criteria provided, single submitter	ClinGen:CA645373025
single nucleotide variant	NM_000548.5(TSC2):c.5259+2T>G	TSC2	Likely pathogenic	16	2138328	2138328	T	G	criteria provided, single submitter	ClinGen:CA394314832
Duplication	NC_000016.10:g.2074199_2088611dup	TSC2	Pathogenic	16	2124200	2138612	na	na	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)	TSC2	Pathogenic/Likely pathogenic	16	2126513	2126514	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509207
Indel	NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs)	TSC1	Likely pathogenic	9	135781261	135781267	TCCCGCA	GC	criteria provided, single submitter	ClinGen:CA645509435
single nucleotide variant	NM_000368.5(TSC1):c.1029+2T>C	TSC1	Likely pathogenic	9	135786838	135786838	A	G	criteria provided, single submitter	ClinGen:CA375368371
single nucleotide variant	NM_000368.5(TSC1):c.1264-1G>A	TSC1	Pathogenic/Likely pathogenic	9	135782758	135782758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA375366235
Duplication	NM_000368.5(TSC1):c.1125dup (p.Val376fs)	TSC1	Likely pathogenic	9	135786404	135786405	C	CT	criteria provided, single submitter	ClinGen:CA658657923

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