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_000535.7(PMS2):c.939T>A (p.Tyr313Ter)	PMS2	Pathogenic	7	6031653	6031653	A	T	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.451del (p.Arg151fs)	PMS2	Pathogenic	7	6042170	6042170	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.1668-2A>C	MLH1	Pathogenic/Likely pathogenic	3	37083757	37083757	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.1990-1G>C	MLH1	Pathogenic/Likely pathogenic	3	37090394	37090394	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1510+2_1510+50del	MSH2	Likely pathogenic	2	47690295	47690343	GTAAGAATGGGTCATTGGAGGTTGGAATAATTCTTTTGTCTATACACTGT	G	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.1933del (p.Glu645fs)	MSH6	Likely pathogenic	2	48027053	48027053	AG	A	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter)	MSH6	Pathogenic/Likely pathogenic	2	48027244	48027245	G	GAAT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000249.4(MLH1):c.980_983dup (p.His329fs)	MLH1	Likely pathogenic	3	37061895	37061896	C	CAGCA	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)	PMS2	Likely pathogenic	7	6026994	6027060	AGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGG	A	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1351del (p.Arg451fs)	PMS2	Likely pathogenic	7	6027045	6027045	CT	C	criteria provided, single submitter	-