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.2362dup (p.Thr788fs)	MSH2	Pathogenic	2	47705561	47705562	T	TA	reviewed by expert panel	ClinGen:CA020506
Deletion	NM_000251.3(MSH2):c.2388del (p.Val797fs)	MSH2	Pathogenic	2	47705588	47705588	CT	C	reviewed by expert panel	ClinGen:CA020529
Duplication	NM_000251.3(MSH2):c.2418dup (p.Thr807fs)	MSH2	Pathogenic	2	47705616	47705617	A	AC	reviewed by expert panel	ClinGen:CA331505
single nucleotide variant	NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)	MSH2	Pathogenic	2	47705622	47705622	G	T	reviewed by expert panel	ClinGen:CA020574
Duplication	NM_000251.3(MSH2):c.2427dup (p.Thr810fs)	MSH2	Pathogenic	2	47705626	47705627	A	AG	reviewed by expert panel	ClinGen:CA020581
single nucleotide variant	NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)	MSH2	Pathogenic	2	47705632	47705632	T	G	reviewed by expert panel	ClinGen:CA020589
Indel	NM_000251.3(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)	MSH2	Pathogenic	2	47635571	47635601	TAAAATGAATTTTGAATCTTTTGTAAAAGAT	CTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)	MSH2	Pathogenic	2	47705646	47705646	C	T	reviewed by expert panel	ClinGen:CA020600
single nucleotide variant	NM_000251.3(MSH2):c.244A>T (p.Lys82Ter)	MSH2	Pathogenic	2	47635572	47635572	A	T	reviewed by expert panel	ClinGen:CA020604
single nucleotide variant	NM_000251.3(MSH2):c.2458+1G>A	MSH2	Likely pathogenic	2	47705659	47705659	G	A	reviewed by expert panel	ClinGen:CA020608

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