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.336+5G>C	TSC2	Pathogenic/Likely pathogenic	16	2103458	2103458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607137
single nucleotide variant	NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter)	TSC2	Pathogenic	16	2131712	2131712	G	T	criteria provided, single submitter	ClinGen:CA16607156
single nucleotide variant	NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)	TSC2	Likely pathogenic	16	2111992	2111992	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608029
single nucleotide variant	NM_000548.5(TSC2):c.3131+2T>A	TSC2	Pathogenic	16	2129199	2129199	T	A	criteria provided, single submitter	ClinGen:CA16608055
single nucleotide variant	NM_000548.5(TSC2):c.5069-2A>C	TSC2	Pathogenic	16	2138047	2138047	A	C	criteria provided, single submitter	ClinGen:CA16608078
Deletion	NC_000016.9:g.(?_2098645)_(2130379_2131595)del	TSC2	Pathogenic	16	2098645	2131595	na	na	criteria provided, single submitter	-
Deletion	NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del	TSC1	Pathogenic	9	135750586	135776102	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)	TSC2	Pathogenic/Likely pathogenic	16	2138235	2138235	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609418
Deletion	NM_000368.5(TSC1):c.1518del (p.Tyr508fs)	TSC1	Pathogenic	9	135781447	135781447	AG	A	criteria provided, single submitter	ClinGen:CA16612461
single nucleotide variant	NM_000368.5(TSC1):c.2391+1G>C	TSC1	Likely pathogenic	9	135777991	135777991	C	G	criteria provided, single submitter	ClinGen:CA16612572

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