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

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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_000548.5(TSC2):c.5064_5065delinsTT (p.Arg1688_Lys1689delinsSerTer)	TSC2	Pathogenic	16	2137938	2137939	GA	TT	criteria provided, single submitter	ClinGen:CA658798495
Indel	NM_000548.5(TSC2):c.4437_4440delinsTTT (p.Lys1481fs)	TSC2	Pathogenic	16	2134660	2134663	CTTA	TTT	criteria provided, single submitter	ClinGen:CA658798484
single nucleotide variant	NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)	TSC2	Pathogenic/Likely pathogenic	16	2137898	2137898	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394311256
Deletion	NC_000016.10:g.(?_2086173)_(2112493_?)del	TSC2	Pathogenic	16	2136174	2162494	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)	TSC2	Pathogenic	16	2104435	2104435	G	T	criteria provided, single submitter	ClinGen:CA394308572
Duplication	NM_000548.5(TSC2):c.1047dup (p.Arg350Ter)	TSC2	Pathogenic	16	2110741	2110742	A	AT	criteria provided, single submitter	ClinGen:CA658798483
single nucleotide variant	NM_000548.5(TSC2):c.336+1G>C	TSC2	Pathogenic	16	2103454	2103454	G	C	criteria provided, single submitter	ClinGen:CA394306095
single nucleotide variant	NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)	TSC2	Likely pathogenic	16	2104400	2104400	C	A	criteria provided, single submitter	ClinGen:CA394308347
single nucleotide variant	NM_000548.5(TSC2):c.3586G>T (p.Glu1196Ter)	TSC2	Pathogenic	16	2130354	2130354	G	T	criteria provided, single submitter	ClinGen:CA394289668
Deletion	NM_000548.5(TSC2):c.3641_3814+28del	TSC2	Pathogenic	16	2131626	2131827	AACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGG	A	criteria provided, single submitter	ClinGen:CA658798468

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