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.2906A>G (p.Tyr969Cys)	MSH6	Likely pathogenic	2	48028028	48028028	A	G	reviewed by expert panel	ClinGen:CA069803
Duplication	NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)	MSH6	Pathogenic/Likely pathogenic	2	48032100	48032101	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577289
Duplication	NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)	MSH6	Pathogenic/Likely pathogenic	2	48033448	48033449	C	CATTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA071953
Deletion	NM_000249.4(MLH1):c.347del (p.Thr116fs)	MLH1	Pathogenic/Likely pathogenic	3	37045932	37045932	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577302
single nucleotide variant	NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)	MLH1	Pathogenic	3	37048493	37048493	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577305
single nucleotide variant	NM_000249.4(MLH1):c.307-2A>G	MLH1	Pathogenic/Likely pathogenic	3	37045890	37045890	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577306
Deletion	NM_000249.4(MLH1):c.1029del (p.Phe344fs)	MLH1	Pathogenic	3	37061945	37061945	AC	A	criteria provided, single submitter	ClinGen:CA10577311
Insertion	NM_000249.4(MLH1):c.1520_1521insTA (p.Leu507fs)	MLH1	Likely pathogenic	3	37070385	37070386	T	TTA	criteria provided, single submitter	ClinGen:CA10577312
single nucleotide variant	NM_000249.4(MLH1):c.1698T>A (p.Tyr566Ter)	MLH1	Pathogenic	3	37083789	37083789	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577314
Deletion	NM_000535.7(PMS2):c.2500_2501del (p.Met834fs)	PMS2	Likely pathogenic	7	6013118	6013119	CAT	C	criteria provided, single submitter	ClinGen:CA10577330