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_000251.3(MSH2):c.495T>G (p.Tyr165Ter)	MSH2	Pathogenic	2	47637361	47637361	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1144del (p.Arg382fs)	MSH2	Pathogenic	2	47656948	47656948	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1229del (p.Gly410fs)	MSH2	Pathogenic/Likely pathogenic	2	47657031	47657031	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)	MSH2	Pathogenic/Likely pathogenic	2	47693852	47693852	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000251.3(MSH2):c.1812_1819dup (p.Ser607fs)	MSH2	Pathogenic	2	47702215	47702216	C	CTGTTGTCA	criteria provided, single submitter	-
Indel	NM_000251.3(MSH2):c.2045_2047delinsTT (p.Thr682fs)	MSH2	Pathogenic	2	47703545	47703547	CTG	TT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.2079T>A (p.Cys693Ter)	MSH2	Pathogenic	2	47703579	47703579	T	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter)	MSH2	Pathogenic/Likely pathogenic	2	47707963	47707964	T	TA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.233_254dup (p.Thr86fs)	MSH6	Pathogenic	2	48010604	48010605	A	AGATCGGTAGCGCCTGCTGCCCC	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.443dup (p.Leu148fs)	MSH6	Pathogenic/Likely pathogenic	2	48018244	48018245	C	CT	criteria provided, multiple submitters, no conflicts	-