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_000249.4(MLH1):c.626del (p.Asn209fs)	MLH1	Pathogenic	3	37053538	37053538	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.735C>A (p.Tyr245Ter)	MLH1	Pathogenic	3	37055980	37055980	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)	MLH1	Pathogenic	3	37067136	37067138	ACC	T	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.1597del (p.Cys533fs)	MLH1	Pathogenic/Likely pathogenic	3	37081715	37081715	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.643del (p.Gln215fs)	MSH2	Pathogenic	2	47637509	47637509	AC	A	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs)	MSH2	Pathogenic	2	47657003	47657006	AACTT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.1759+1G>T	MSH2	Pathogenic/Likely pathogenic	2	47698202	47698202	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.2175-1G>C	PMS2	Likely pathogenic	7	6018328	6018328	C	G	criteria provided, single submitter	-
Indel	NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs)	PMS2	Pathogenic	7	6022487	6022501	CTGCTGCAGCATCTC	TATACGA	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.2123del (p.Asn708fs)	PMS2	Pathogenic	7	6022506	6022506	GT	G	criteria provided, multiple submitters, no conflicts	-