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
Duplication	NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)	MLH1	Pathogenic/Likely pathogenic	3	37061874	37061875	G	GAGAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509133
Indel	NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)	MLH1	Pathogenic/Likely pathogenic	3	37070367	37070368	TT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509134
Deletion	NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs)	MLH1	Pathogenic/Likely pathogenic	3	37090016	37090029	ACCTGATTGGATTAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509135
single nucleotide variant	NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter)	MLH1	Pathogenic/Likely pathogenic	3	37090437	37090437	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352068000
single nucleotide variant	NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)	PMS2	Pathogenic/Likely pathogenic	7	6037051	6037051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366743790
single nucleotide variant	NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	PMS2	Pathogenic/Likely pathogenic	7	6043612	6043612	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366744765
single nucleotide variant	NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)	MSH6	Pathogenic	2	48026917	48026917	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346749316
Duplication	NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)	MSH6	Pathogenic	2	48033609	48033610	G	GA	criteria provided, single submitter	ClinGen:CA658653650
single nucleotide variant	NM_000251.3(MSH2):c.645+2T>C	MSH2	Pathogenic/Likely pathogenic	2	47637513	47637513	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346731228
single nucleotide variant	NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)	MSH2	Pathogenic	2	47643491	47643491	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346733125