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
Duplication	NM_000249.4(MLH1):c.1491dup (p.Arg498fs)	MLH1	Pathogenic	3	37070354	37070355	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)	MLH1	Pathogenic	3	37070411	37070411	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter)	MLH1	Pathogenic	3	37081758	37081758	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)	MLH1	Pathogenic	3	37089017	37089030	GCACCGCTCTTTGAC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)	PMS2	Pathogenic	7	6017344	6017345	T	TA	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer)	PMS2	Pathogenic	7	6026519	6026522	GCTA	CCT	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)	PMS2	Pathogenic	7	6026533	6026533	TA	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000535.6(PMS2):c.1688_1732del45ins46 (p.?)	PMS2	Pathogenic	7	6026664	6026708	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)	PMS2	Pathogenic	7	6026697	6026697	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.1532del (p.Thr511fs)	PMS2	Pathogenic	7	6026864	6026864	CG	C	criteria provided, multiple submitters, no conflicts	-