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
single nucleotide variant	NM_000179.3(MSH6):c.3556+1G>A	MSH6	Pathogenic	2	48032167	48032167	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610973
Deletion	NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)	MSH6	Pathogenic	2	48026937	48026938	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610988
single nucleotide variant	NM_000251.3(MSH2):c.211+2T>C	MSH2	Pathogenic	2	47630543	47630543	T	C	criteria provided, single submitter	ClinGen:CA16610992
single nucleotide variant	NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)	MSH2	Pathogenic	2	47637254	47637254	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610998
single nucleotide variant	NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)	MSH6	Pathogenic	2	48027672	48027672	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611011
Deletion	NM_000179.3(MSH6):c.2991del (p.Lys997fs)	MSH6	Pathogenic	2	48028111	48028111	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611018
Deletion	NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer)	MSH2	Pathogenic	2	47690187	47690187	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611028
single nucleotide variant	NM_000251.3(MSH2):c.1510+2T>C	MSH2	Pathogenic	2	47690295	47690295	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611029
Deletion	NM_000249.3(MLH1):c.(?_-198)_1558+?del	MLH1	Pathogenic	3	37034841	37070423	na	na	criteria provided, single submitter	-
Deletion	NM_000249.3(MLH1):c.1410-?_1558+?del	MLH1	Pathogenic	3	37070275	37070423	na	na	criteria provided, single submitter	-