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
Deletion	NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del)	TSC2	Likely pathogenic	16	2110789	2110809	ATCGAACGGCTCCTTCAGCAGC	A	criteria provided, single submitter	ClinGen:CA645294081
single nucleotide variant	NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter)	TSC2	Pathogenic	16	2129404	2129404	G	T	criteria provided, single submitter	ClinGen:CA394286188
single nucleotide variant	NM_000548.5(TSC2):c.4006-1G>A	TSC2	Pathogenic	16	2134228	2134228	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394299109
Duplication	NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs)	TSC2	Pathogenic	16	2138575	2138576	C	CATCT	criteria provided, single submitter	ClinGen:CA645294082
single nucleotide variant	NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter)	TSC1	Pathogenic	9	135776197	135776197	G	A	criteria provided, single submitter	ClinGen:CA375370252
Duplication	NM_000368.5(TSC1):c.637dup (p.Leu213fs)	TSC1	Pathogenic	9	135797231	135797232	A	AG	criteria provided, single submitter	ClinGen:CA645369461
Indel	NM_000368.5(TSC1):c.389_390delinsT (p.Thr130fs)	TSC1	Pathogenic	9	135798853	135798854	TG	A	criteria provided, single submitter	ClinGen:CA645369415
single nucleotide variant	NM_000548.5(TSC2):c.751G>T (p.Glu251Ter)	TSC2	Pathogenic	16	2106747	2106747	G	T	criteria provided, single submitter	ClinGen:CA394312781
single nucleotide variant	NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter)	TSC2	Pathogenic	16	2112534	2112534	C	T	criteria provided, single submitter	ClinGen:CA394322093
single nucleotide variant	NM_000548.5(TSC2):c.1600-2A>G	TSC2	Pathogenic	16	2115518	2115518	A	G	criteria provided, single submitter	ClinGen:CA394267513

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