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.4183C>T (p.Gln1395Ter)	TSC2	Pathogenic	16	2134406	2134406	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603365
Deletion	NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs)	TSC2	Pathogenic	16	2134953	2134957	AGTTTC	A	criteria provided, single submitter	ClinGen:CA10603367
Duplication	NM_000548.5(TSC2):c.824dup (p.Asn275fs)	TSC2	Pathogenic	16	2107153	2107154	C	CA	criteria provided, single submitter	ClinGen:CA10603511
single nucleotide variant	NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter)	TSC2	Pathogenic	16	2121600	2121600	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603513
Deletion	NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs)	TSC2	Pathogenic	16	2122246	2122249	TCTGA	T	criteria provided, single submitter	ClinGen:CA10603516
Duplication	NM_000548.5(TSC2):c.4276dup (p.Glu1426fs)	TSC2	Pathogenic	16	2134495	2134496	C	CG	criteria provided, single submitter	ClinGen:CA10603519
single nucleotide variant	NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter)	TSC2	Pathogenic	16	2135255	2135255	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603520
single nucleotide variant	NM_000368.5(TSC1):c.1998-2A>G	TSC1	Pathogenic/Likely pathogenic	9	135779843	135779843	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042671
Indel	NM_000368.5(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs)	TSC1	Pathogenic	9	135779137	135779140	GAGT	AAACGCTCTTAAAACAA	criteria provided, single submitter	ClinGen:CA16042753
Indel	NM_000548.5(TSC2):c.134_138+1delinsC	TSC2	Pathogenic	16	2098750	2098755	TGAGAG	C	criteria provided, single submitter	ClinGen:CA16042978

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