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.578del (p.Leu193fs)	MSH6	Pathogenic/Likely pathogenic	2	48023152	48023152	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015884
single nucleotide variant	NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)	MSH6	Pathogenic	2	48026111	48026111	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016771
Deletion	NM_000179.3(MSH6):c.1059_1063del (p.Ser353fs)	MSH6	Pathogenic	2	48026179	48026183	TAGTGG	T	criteria provided, single submitter	ClinGen:CA007923
single nucleotide variant	NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)	MSH6	Pathogenic	2	48026360	48026360	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008349
Deletion	NM_000179.3(MSH6):c.1772del (p.Pro591fs)	MSH6	Pathogenic/Likely pathogenic	2	48026890	48026890	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009171
Duplication	NM_000179.3(MSH6):c.2079dup (p.Cys694fs)	MSH6	Pathogenic	2	48027195	48027196	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA197852
Duplication	NM_000179.3(MSH6):c.2230dup (p.Glu744fs)	MSH6	Pathogenic/Likely pathogenic	2	48027350	48027351	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA186281
single nucleotide variant	NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)	MSH6	Pathogenic	2	48027672	48027672	C	A	criteria provided, single submitter	ClinGen:CA010381
Deletion	NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)	MSH6	Pathogenic	2	48028027	48028028	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011064
Insertion	NM_000179.3(MSH6):c.3267_3268insC (p.Glu1090fs)	MSH6	Pathogenic	2	48030653	48030654	A	AC	criteria provided, single submitter	ClinGen:CA012383