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.3212_3213del (p.Thr1071fs)	TSC2	Pathogenic	16	2129356	2129357	GAC	G	criteria provided, single submitter	ClinGen:CA16042979
Deletion	NM_000548.5(TSC2):c.3653del (p.Pro1218fs)	TSC2	Pathogenic	16	2131636	2131636	GC	G	criteria provided, single submitter	ClinGen:CA16042980
single nucleotide variant	NM_000548.5(TSC2):c.4493+1G>A	TSC2	Pathogenic	16	2134717	2134717	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042990
Deletion	NM_000548.5(TSC2):c.428del (p.Phe143fs)	TSC2	Pathogenic	16	2104385	2104385	GT	G	criteria provided, single submitter	ClinGen:CA16043063
Deletion	NM_000368.5(TSC1):c.658del (p.Val220fs)	TSC1	Likely pathogenic	9	135797211	135797211	AC	A	criteria provided, single submitter	ClinGen:CA16043438
single nucleotide variant	NM_000548.5(TSC2):c.5160+4A>C	TSC2	Pathogenic	16	2138144	2138144	A	C	criteria provided, single submitter	ClinGen:CA16043502
single nucleotide variant	NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter)	TSC1	Likely pathogenic	9	135778114	135778114	C	A	criteria provided, single submitter	ClinGen:CA16044045
single nucleotide variant	NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter)	TSC1	Pathogenic	9	135772982	135772982	T	A	criteria provided, single submitter	ClinGen:CA16605392
single nucleotide variant	NM_000548.5(TSC2):c.1119G>C (p.Gln373His)	TSC2	Likely pathogenic	16	2110814	2110814	G	C	criteria provided, single submitter	ClinGen:CA16606925
single nucleotide variant	NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro)	TSC2	Likely pathogenic	16	2124373	2124373	T	C	criteria provided, single submitter	ClinGen:CA16606932

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