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

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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
Duplication	NM_000251.3(MSH2):c.860dup (p.Gln288fs)	MSH2	Pathogenic/Likely pathogenic	2	47641473	47641474	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA186235
single nucleotide variant	NM_000251.3(MSH2):c.942+3A>T	MSH2	Pathogenic	2	47641560	47641560	A	T	reviewed by expert panel	ClinGen:CA022585,OMIM:609309.0011,OMIM:609309.0021
Deletion	NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)	MSH6	Pathogenic	2	48033393	48033396	TAAAG	T	reviewed by expert panel	ClinGen:CA013885
single nucleotide variant	NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)	TGFBR2	Likely pathogenic	3	30732927	30732927	T	C	criteria provided, single submitter	ClinGen:CA020708,UniProtKB:P37173#VAR_066730
single nucleotide variant	NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)	MLH1	Pathogenic/Likely pathogenic	3	37042456	37042456	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009060,OMIM:120436.0034
single nucleotide variant	NM_000179.3(MSH6):c.3173-1G>C	MSH6	Pathogenic/Likely pathogenic	2	48030558	48030558	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011783
single nucleotide variant	NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	MSH6	Pathogenic	2	48033780	48033780	C	T	reviewed by expert panel	ClinGen:CA015060
single nucleotide variant	NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)	TGFBR2	Likely pathogenic	3	30729974	30729974	G	T	criteria provided, single submitter	ClinGen:CA020693
Deletion	NM_000179.2(MSH6):c.(?_-152)_(*93_?)del	MSH6	Pathogenic	2	48010221	48034092	na	na	reviewed by expert panel	-
Deletion	NM_000179.2(MSH6):c.(?_-152)_457+?del	MSH6	Pathogenic	2	48010221	48018262	na	na	reviewed by expert panel	-

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