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_000251.3(MSH2):c.912dup (p.Ala305fs)	MSH2	Pathogenic	2	47641525	47641526	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA337334
single nucleotide variant	NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)	MSH6	Pathogenic	2	48026167	48026167	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA336780
Duplication	NM_000179.3(MSH6):c.1746dup (p.Arg583Ter)	MSH6	Pathogenic	2	48026865	48026866	A	AT	criteria provided, single submitter	ClinGen:CA336028
Deletion	NM_000179.3(MSH6):c.2089del (p.Asp697fs)	MSH6	Pathogenic	2	48027211	48027211	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA337225
Deletion	NM_000179.3(MSH6):c.3435del (p.Arg1145fs)	MSH6	Pathogenic	2	48030821	48030821	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA336333
Deletion	NM_000249.4(MLH1):c.706_725del (p.Lys236fs)	MLH1	Pathogenic	3	37055949	37055968	GATAAAACCCTAGCCTTCAAA	G	criteria provided, single submitter	ClinGen:CA335699
single nucleotide variant	NM_000249.4(MLH1):c.1912G>T (p.Gly638Ter)	MLH1	Pathogenic	3	37090023	37090023	G	T	criteria provided, single submitter	ClinGen:CA337080
single nucleotide variant	NM_000249.4(MLH1):c.1958T>C (p.Leu653Pro)	MLH1	Likely pathogenic	3	37090069	37090069	T	C	criteria provided, single submitter	ClinGen:CA339456
Deletion	NM_000535.5(PMS2):c.989-?_1144+?del	PMS2	Pathogenic	7	6029431	6029586	na	na	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	PMS2	Pathogenic	7	6026757	6026758	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA337750