リンチ症候群 - MGenReviews

リンチ症候群

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_000179.3(MSH6):c.6_7delinsCT (p.Arg3Ter)	MSH6	Pathogenic	2	48010378	48010379	GC	CT	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.703_709del (p.Thr235fs)	MSH6	Pathogenic	2	48025822	48025828	TAAGACAC	T	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.723dup (p.Ser242Ter)	MSH6	Pathogenic	2	48025844	48025845	G	GT	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.906_907del (p.Arg302fs)	MSH6	Pathogenic	2	48026028	48026029	GAA	G	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.2920del (p.Arg974fs)	MSH6	Pathogenic	2	48028042	48028042	TA	T	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3109_3112del (p.Phe1037fs)	MSH6	Pathogenic	2	48028231	48028234	GTTCT	G	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3137_3138del (p.Asp1046fs)	MSH6	Pathogenic	2	48028259	48028260	GAC	G	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)	MSH6	Pathogenic/Likely pathogenic	2	48033601	48033602	T	TAGAAAATGAATGTG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)	MSH6	Pathogenic/Likely pathogenic	2	48033741	48033759	TAGAAAAGCAAGAGAATTTG	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs)	PMS2	Pathogenic	7	6026494	6026504	ATGATGTAACT	TTTA	criteria provided, single submitter	-

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