リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

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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
Deletion	NM_000251.3(MSH2):c.309del (p.Val102_Tyr103insTer)	MSH2	Pathogenic	2	47635637	47635637	AT	A	criteria provided, single submitter	ClinGen:CA645369212
Deletion	NM_000251.3(MSH2):c.362del (p.Tyr121fs)	MSH2	Pathogenic	2	47635690	47635690	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369154
Indel	NM_000251.3(MSH2):c.365delinsCGG (p.Lys122fs)	MSH2	Pathogenic	2	47635693	47635693	A	CGG	criteria provided, single submitter	ClinGen:CA645369155
Duplication	NM_000251.3(MSH2):c.420dup (p.Met141fs)	MSH2	Pathogenic	2	47637285	47637286	A	AT	criteria provided, single submitter	ClinGen:CA645369180
single nucleotide variant	NM_000251.3(MSH2):c.425C>A (p.Ser142Ter)	MSH2	Pathogenic	2	47637291	47637291	C	A	criteria provided, single submitter	ClinGen:CA346730447
Indel	NM_000251.3(MSH2):c.465_466delinsA (p.Asp156fs)	MSH2	Pathogenic	2	47637331	47637332	TG	A	criteria provided, single submitter	ClinGen:CA645369182
Deletion	NM_000251.3(MSH2):c.525_532del (p.Cys176fs)	MSH2	Pathogenic	2	47637390	47637397	CTGTGTGAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369184
Deletion	NM_000251.3(MSH2):c.535_536del (p.Phe178_Pro179insTer)	MSH2	Pathogenic	2	47637400	47637401	TCC	T	criteria provided, single submitter	ClinGen:CA645369186
Deletion	NM_000251.3(MSH2):c.536del (p.Pro179fs)	MSH2	Pathogenic	2	47637400	47637400	TC	T	criteria provided, single submitter	ClinGen:CA645369185
Deletion	NM_000251.3(MSH2):c.563del (p.Glu188fs)	MSH2	Pathogenic	2	47637429	47637429	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369187