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
Indel	NM_000368.5(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer)	TSC1	Pathogenic	9	135781520	135781522	ATT	G	criteria provided, single submitter	ClinGen:CA16618771
Deletion	NM_000368.5(TSC1):c.1388del (p.Phe462_Leu463insTer)	TSC1	Pathogenic	9	135782168	135782168	TA	T	criteria provided, single submitter	ClinGen:CA16618772
Duplication	NM_000368.5(TSC1):c.1367dup (p.Ser457fs)	TSC1	Pathogenic	9	135782188	135782189	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618773
Insertion	NM_000368.5(TSC1):c.989_990insTT (p.Leu330_Ser331insTer)	TSC1	Pathogenic	9	135786879	135786880	C	CAA	criteria provided, single submitter	ClinGen:CA16618777
Deletion	NM_000368.5(TSC1):c.590_594del (p.Cys197fs)	TSC1	Pathogenic	9	135797275	135797279	AGTTGC	A	criteria provided, single submitter	ClinGen:CA16618778
single nucleotide variant	NM_000368.5(TSC1):c.572T>C (p.Leu191Pro)	TSC1	Likely pathogenic	9	135797297	135797297	A	G	criteria provided, single submitter	ClinGen:CA16618779
single nucleotide variant	NM_000368.5(TSC1):c.107-1G>A	TSC1	Pathogenic	9	135802692	135802692	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618780
Deletion	NM_000548.5(TSC2):c.131_132del (p.Ile44fs)	TSC2	Pathogenic	16	2098746	2098747	AAT	A	criteria provided, single submitter	ClinGen:CA16620084
single nucleotide variant	NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)	TSC2	Pathogenic	16	2103445	2103445	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620085
Duplication	NM_000548.5(TSC2):c.581dup (p.Tyr194Ter)	TSC2	Pathogenic	16	2105501	2105502	T	TA	criteria provided, single submitter	ClinGen:CA16620086

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