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	NM_000535.5(PMS2):c.989-?_(*160_?)del	PMS2	Pathogenic	7	6012870	6029586	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)	MSH6	Pathogenic/Likely pathogenic	2	48032087	48032087	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013011
single nucleotide variant	NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)	MSH6	Likely pathogenic	2	48026743	48026743	A	C	reviewed by expert panel	ClinGen:CA008929
single nucleotide variant	NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)	MSH6	Likely pathogenic	2	48028285	48028285	G	C	reviewed by expert panel	ClinGen:CA011702
single nucleotide variant	NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)	MSH6	Pathogenic	2	48026363	48026363	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008355
single nucleotide variant	NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)	MSH6	Pathogenic	2	48028264	48028264	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011628
Duplication	NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs)	MSH6	Pathogenic	2	48033441	48033442	T	TACCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA014163
Deletion	NM_000179.3(MSH6):c.468_471del (p.Glu158fs)	MSH6	Pathogenic	2	48023043	48023046	CAAAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015671
single nucleotide variant	NM_000249.4(MLH1):c.117-1G>A	MLH1	Pathogenic	3	37038109	37038109	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1744del (p.Val582fs)	MSH2	Pathogenic	2	47698186	47698186	TG	T	criteria provided, single submitter	ClinGen:CA019147