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.2275+2T>C	PMS2	Pathogenic/Likely pathogenic	7	6018225	6018225	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.705+1G>C	PMS2	Likely pathogenic	7	6038738	6038738	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)	PMS2	Pathogenic	7	6038810	6038810	G	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000179.2(MSH6):c.878_880delinsT (p.Pro293Leufs)	MSH6	Pathogenic	2	48026000	48026002	CTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)	MSH6	Pathogenic/Likely pathogenic	2	48027787	48027787	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)	PMS2	Pathogenic/Likely pathogenic	7	6026982	6026982	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.644del (p.Gln215fs)	MSH2	Pathogenic	2	47637510	47637510	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)	MLH1	Pathogenic	3	37050365	37050365	G	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs)	MLH1	Likely pathogenic	3	37067366	37067367	A	AGT	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter)	MLH1	Likely pathogenic	3	37067476	37067476	G	T	criteria provided, single submitter	-