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.3416del (p.Gly1139fs)	MSH6	Pathogenic	2	48030797	48030797	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012785
Duplication	NM_000249.4(MLH1):c.971dup (p.Arg325fs)	MLH1	Pathogenic/Likely pathogenic	3	37061886	37061887	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA013341
Indel	NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)	PMS2	Pathogenic	7	6013118	6013119	AT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011585
Duplication	NM_000179.3(MSH6):c.2125dup (p.Tyr709fs)	MSH6	Pathogenic	2	48027246	48027247	A	AT	criteria provided, single submitter	ClinGen:CA165079
Duplication	NM_000179.3(MSH6):c.2964dup (p.Asn989fs)	MSH6	Pathogenic	2	48028085	48028086	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA165117
Deletion	NM_000179.3(MSH6):c.742del (p.Arg248fs)	MSH6	Pathogenic	2	48025864	48025864	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016397
Deletion	NM_000535.7(PMS2):c.325del (p.Glu109fs)	PMS2	Pathogenic	7	6043349	6043349	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011860
Deletion	NM_000249.4(MLH1):c.1401del (p.Ser467fs)	MLH1	Pathogenic	3	37067490	37067490	GC	G	criteria provided, single submitter	ClinGen:CA005227
Duplication	NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)	MSH6	Pathogenic	2	48030691	48030692	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA012507
Indel	NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)	PMS2	Pathogenic	7	6037019	6037024	na	na	criteria provided, multiple submitters, no conflicts	-