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.817G>T (p.Gly273Ter)	MSH6	Pathogenic	2	48025939	48025939	G	T	criteria provided, single submitter	ClinGen:CA16617637
Duplication	NM_000179.3(MSH6):c.853dup (p.Ser285fs)	MSH6	Pathogenic	2	48025974	48025975	T	TA	criteria provided, single submitter	ClinGen:CA16617638
Deletion	NM_000179.3(MSH6):c.952_962del (p.Glu318fs)	MSH6	Pathogenic	2	48026074	48026084	GGAAACGCCCTC	G	criteria provided, single submitter	ClinGen:CA16617640
Duplication	NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)	MSH6	Pathogenic	2	48026310	48026311	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617644
Indel	NM_000179.3(MSH6):c.1198_1219delinsTCATC (p.Glu400fs)	MSH6	Pathogenic	2	48026320	48026341	GAGGATTTCCTCAATTCTTGTA	TCATC	criteria provided, single submitter	ClinGen:CA16617645
Deletion	NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs)	MSH6	Pathogenic	2	48026718	48026719	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617654
single nucleotide variant	NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)	MSH6	Pathogenic	2	48026836	48026836	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617658
single nucleotide variant	NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)	MSH6	Pathogenic	2	48027055	48027055	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617661
Deletion	NM_000179.3(MSH6):c.1998_1999del (p.Asp667fs)	MSH6	Pathogenic	2	48027120	48027121	CTG	C	criteria provided, single submitter	ClinGen:CA16617663
Deletion	NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)	MSH6	Pathogenic	2	48027148	48027149	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617665