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_000249.4(MLH1):c.1989G>C (p.Glu663Asp)	MLH1	Pathogenic/Likely pathogenic	3	37090100	37090100	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000249.4(MLH1):c.2009dup (p.Glu671fs)	MLH1	Pathogenic	3	37090410	37090411	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	MLH1	Pathogenic/Likely pathogenic	3	37090475	37090475	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000249.4(MLH1):c.2215_2218dup (p.Ile740fs)	MLH1	Pathogenic	3	37092086	37092087	G	GAAAT	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.2249del (p.Gly750fs)	PMS2	Pathogenic	7	6018253	6018253	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter)	PMS2	Pathogenic	7	6022606	6022606	C	A	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1553del (p.Glu518fs)	PMS2	Pathogenic	7	6026843	6026843	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.1366del (p.Ser456fs)	PMS2	Pathogenic	7	6027030	6027030	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)	PMS2	Pathogenic	7	6027219	6027219	C	A	criteria provided, single submitter	-
Duplication	NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)	PMS2	Pathogenic	7	6037036	6037037	A	AAGGAATG	criteria provided, multiple submitters, no conflicts	-