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.3164del (p.Gly1055fs)	TSC2	Likely pathogenic	16	2129308	2129308	TG	T	criteria provided, single submitter	ClinGen:CA658656500
Deletion	NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)	TSC2	Pathogenic/Likely pathogenic	16	2131731	2131732	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656510
Deletion	NM_000548.5(TSC2):c.3783del (p.Lys1262fs)	TSC2	Likely pathogenic	16	2131767	2131767	GC	G	criteria provided, single submitter	ClinGen:CA658656512
Deletion	NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs)	TSC2	Pathogenic	16	2134442	2134443	CGT	C	criteria provided, single submitter	ClinGen:CA658656527
single nucleotide variant	NM_000548.5(TSC2):c.4569+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2135028	2135028	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394303133
Deletion	NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del)	TSC2	Likely pathogenic	16	2136817	2136825	TTTGTGTCCA	T	criteria provided, single submitter	ClinGen:CA658656613
single nucleotide variant	NM_000548.5(TSC2):c.4990-1G>A	TSC2	Pathogenic/Likely pathogenic	16	2137863	2137863	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394310850
single nucleotide variant	NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly)	TSC2	Pathogenic	16	2137892	2137892	T	G	criteria provided, single submitter	ClinGen:CA394311227
Duplication	NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs)	TSC2	Pathogenic	16	2137899	2137900	G	GCTGGA	criteria provided, single submitter	ClinGen:CA658656624
Deletion	NM_000548.5(TSC2):c.5078del (p.Gly1693fs)	TSC2	Pathogenic	16	2138056	2138056	AG	A	criteria provided, single submitter	ClinGen:CA658656632

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