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_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)	MSH6	Pathogenic	2	48027361	48027361	TC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.2277_2281dup (p.Arg761fs)	MSH6	Pathogenic	2	48027398	48027399	T	TAGAGA	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)	MSH6	Pathogenic	2	48027417	48027417	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.2504del (p.Gln835fs)	MSH6	Pathogenic	2	48027626	48027626	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.2602dup (p.Met868fs)	MSH6	Pathogenic	2	48027722	48027723	T	TA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.2759dup (p.Ala921fs)	MSH6	Pathogenic	2	48027877	48027878	G	GA	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.2873del (p.Gln958fs)	MSH6	Pathogenic	2	48027995	48027995	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)	MSH6	Pathogenic	2	48028104	48028104	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)	MSH6	Pathogenic	2	48028143	48028143	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3078dup (p.Val1027fs)	MSH6	Pathogenic	2	48028199	48028200	A	AT	criteria provided, multiple submitters, no conflicts	-