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.538-1G>C	PMS2	Pathogenic/Likely pathogenic	7	6038907	6038907	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA153242095
Deletion	NM_000535.7(PMS2):c.23+21_23+28del	PMS2	Likely pathogenic	7	6048600	6048607	GACACCGGA	G	criteria provided, single submitter	ClinGen:CA645372439
Deletion	NM_002354.2(EPCAM):c.904-?_945+?del	EPCAM	Pathogenic	2	47613711	47613752	na	na	criteria provided, single submitter	-
Duplication	Single allele	MSH2	Pathogenic	2	47630331	47643568	na	na	criteria provided, single submitter	-
Deletion	Single allele	MSH2	Pathogenic	2	47641408	47710088	na	na	criteria provided, single submitter	-
Deletion	Single allele	MSH2	Pathogenic	2	47641519	47672796	na	na	criteria provided, single submitter	-
Deletion	Single allele	MSH2	Pathogenic	2	47702164	47710085	na	na	criteria provided, single submitter	-
Deletion	Single allele	MSH2	Pathogenic	2	47702164	47710088	na	na	criteria provided, single submitter	-
Deletion	Single allele	MSH6	Pathogenic	2	48010373	48010632	na	na	criteria provided, single submitter	-
Deletion	Single allele	MSH6	Pathogenic	2	48010373	48033999	na	na	criteria provided, single submitter	-