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
Insertion	NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs)	MSH2	Pathogenic	2	47656928	47656929	C	CTA	criteria provided, single submitter	ClinGen:CA017291
single nucleotide variant	NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)	MSH2	Pathogenic	2	47672761	47672761	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018061
single nucleotide variant	NM_000251.3(MSH2):c.1442T>G (p.Leu481Ter)	MSH2	Pathogenic	2	47690225	47690225	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018288
single nucleotide variant	NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)	MSH2	Pathogenic	2	47702188	47702188	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019291
Deletion	NM_000251.3(MSH2):c.1793del (p.Val598fs)	MSH2	Pathogenic	2	47702197	47702197	GT	G	criteria provided, single submitter	ClinGen:CA019321
Duplication	NM_000251.3(MSH2):c.1803dup (p.Leu602fs)	MSH2	Pathogenic	2	47702206	47702207	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA197552
single nucleotide variant	NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)	MSH2	Likely pathogenic	2	47703590	47703590	G	A	reviewed by expert panel	ClinGen:CA019995
single nucleotide variant	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6	Pathogenic/Likely pathogenic	2	48010382	48010382	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008028,OMIM:600678.0018
Deletion	NM_000179.3(MSH6):c.397_410del (p.Phe133fs)	MSH6	Pathogenic	2	48018198	48018211	TACAGTTTTTTGATG	T	criteria provided, single submitter	ClinGen:CA014928
single nucleotide variant	NM_000179.3(MSH6):c.565A>T (p.Lys189Ter)	MSH6	Pathogenic	2	48023140	48023140	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015872