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_000179.3(MSH6):c.3154G>T (p.Glu1052Ter)	MSH6	Pathogenic/Likely pathogenic	2	48028276	48028276	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs)	MSH6	Pathogenic	2	48033434	48033435	A	AACTC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3900_3945dup (p.Gly1316Ter)	MSH6	Pathogenic/Likely pathogenic	2	48033688	48033689	T	TTAATGCAGCAAGGCTTGCTAATCTCCCAGAGGAAGTTATTCAAAAG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3916_3926dup (p.Glu1310fs)	MSH6	Likely pathogenic	2	48033704	48033705	T	TGCTAATCTCCC	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.1601del (p.Val534fs)	MLH1	Pathogenic	3	37081719	37081719	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.1912del (p.Gln638fs)	PMS2	Pathogenic/Likely pathogenic	7	6026484	6026484	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.452del (p.Arg151fs)	PMS2	Likely pathogenic	7	6042169	6042169	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)	PMS2	Likely pathogenic	7	6042246	6042246	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.792+2T>G	MSH2	Pathogenic/Likely pathogenic	2	47639701	47639701	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.1144+1G>C	PMS2	Likely pathogenic	7	6029430	6029430	C	G	criteria provided, multiple submitters, no conflicts	-