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	Single allele	MSH6	Pathogenic	2	48010373	48032846	na	na	criteria provided, single submitter	-
Duplication	Single allele	MSH6	Likely pathogenic	2	48010373	48010632	na	na	criteria provided, single submitter	-
Deletion	Single allele	PMS2	Likely pathogenic	7	6013030	6017388	na	na	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.961_1006del (p.Thr321fs)	MSH2	Pathogenic/Likely pathogenic	2	47643451	47643496	ACCACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509099
Deletion	NM_000251.3(MSH2):c.1747_1748del (p.Asn583fs)	MSH2	Pathogenic	2	47698189	47698190	CAA	C	criteria provided, single submitter	ClinGen:CA645509102
single nucleotide variant	NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)	MSH2	Likely pathogenic	2	47705451	47705451	G	C	reviewed by expert panel	ClinGen:CA346729765
Deletion	NM_000179.3(MSH6):c.2687_2690del (p.Lys896fs)	MSH6	Likely pathogenic	2	48027807	48027810	CAAAA	C	criteria provided, single submitter	ClinGen:CA645509106
Duplication	NM_000249.4(MLH1):c.34dup (p.Asp12fs)	MLH1	Pathogenic/Likely pathogenic	3	37035070	37035071	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509127
single nucleotide variant	NM_000249.4(MLH1):c.381-1G>C	MLH1	Pathogenic/Likely pathogenic	3	37048481	37048481	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352038921
Duplication	NM_000249.4(MLH1):c.927dup (p.Thr310fs)	MLH1	Pathogenic/Likely pathogenic	3	37061839	37061840	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509132