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_000251.3(MSH2):c.1396del (p.His466fs)	MSH2	Pathogenic	2	47690178	47690178	AC	A	criteria provided, single submitter	-
Insertion	NM_000251.3(MSH2):c.1491_1492insTT (p.Ser498fs)	MSH2	Pathogenic	2	47690274	47690275	A	ATT	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.2459-1G>C	MSH2	Likely pathogenic	2	47707834	47707834	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.164_177del (p.Pro55fs)	MSH6	Pathogenic	2	48010535	48010548	GCCTGGGCCCAGGCC	G	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.698_713del (p.Pro233fs)	MSH6	Pathogenic	2	48025819	48025834	GCCTAAGACACAAGGAT	G	criteria provided, single submitter	-
Insertion	NM_000179.3(MSH6):c.1323_1324insCAAA (p.Ile442fs)	MSH6	Pathogenic	2	48026445	48026446	T	TCAAA	criteria provided, single submitter	-
Indel	NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs)	MSH6	Pathogenic	2	48027142	48027269	GGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC	TTGT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3557-2A>T	MSH6	Likely pathogenic	2	48032755	48032755	A	T	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3735_3769del (p.Thr1247fs)	MSH6	Pathogenic	2	48033425	48033459	CATTATTTTCAACTCACTACCATTCATTAGTAGAAG	C	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47369496)_(47445667_?)del	MSH2	Pathogenic	2	47596635	47672806	na	na	criteria provided, single submitter	-