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.24_42delinsCAA (p.Glu9fs)	TSC1	Pathogenic	9	135804218	135804236	CAGCATGGCAAGAAGCTCC	TTG	criteria provided, single submitter	ClinGen:CA658657932
Deletion	NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs)	TSC1	Pathogenic	9	135778148	135778152	CCTTCT	C	criteria provided, single submitter	ClinGen:CA658656066
single nucleotide variant	NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter)	TSC1	Pathogenic	9	135779812	135779812	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA375361284
Deletion	NM_000368.5(TSC1):c.1781del (p.Val594fs)	TSC1	Pathogenic	9	135781184	135781184	CA	C	criteria provided, single submitter	ClinGen:CA658657918
Duplication	NM_000368.5(TSC1):c.1388dup (p.Leu463fs)	TSC1	Pathogenic	9	135782167	135782168	T	TA	criteria provided, single submitter	ClinGen:CA658657920
Deletion	NM_000368.5(TSC1):c.738-2_740del	TSC1	Likely pathogenic	9	135787842	135787846	CCACCT	C	criteria provided, single submitter	ClinGen:CA658657925
single nucleotide variant	NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)	TSC1	Pathogenic	9	135776203	135776203	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA375370274
Duplication	NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs)	TSC1	Pathogenic	9	135779065	135779066	T	TGCTG	criteria provided, single submitter	ClinGen:CA658656067
Duplication	NM_000368.5(TSC1):c.850dup (p.Arg284fs)	TSC1	Pathogenic	9	135787731	135787732	C	CG	criteria provided, single submitter	ClinGen:CA658657924
Deletion	NC_000016.9:g.(?_2098597)_(2150587_?)del	TSC2	Pathogenic	16	2098597	2150587	na	na	criteria provided, single submitter	-

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