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_000179.3(MSH6):c.3957dup (p.Ala1320fs)	MSH6	Pathogenic/Likely pathogenic	2	48033742	48033743	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA072375
single nucleotide variant	NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)	MSH6	Pathogenic	2	48033753	48033753	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346761548
Duplication	NM_000249.3(MLH1):c.307-?_1667+?dup	MLH1	Pathogenic	3	37045892	37081785	na	na	criteria provided, single submitter	-
Deletion	NM_000249.3(MLH1):c.381-?_677+?del	MLH1	Pathogenic	3	37048482	37053590	na	na	criteria provided, single submitter	-
Duplication	NM_000249.3(MLH1):c.546-?_1731+?dup	MLH1	Likely pathogenic	3	37053311	37083822	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.306+2T>G	MLH1	Likely pathogenic	3	37042546	37042546	T	G	criteria provided, single submitter	ClinGen:CA352036702
Deletion	NM_000249.4(MLH1):c.456_545+2del	MLH1	Pathogenic	3	37050302	37050393	TCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGG	T	criteria provided, single submitter	ClinGen:CA645372729
Deletion	NM_000249.4(MLH1):c.492del (p.Ala165fs)	MLH1	Pathogenic	3	37050340	37050340	GA	G	criteria provided, single submitter	ClinGen:CA645372730
Deletion	NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer)	MLH1	Pathogenic	3	37055998	37056000	ACTC	A	criteria provided, single submitter	ClinGen:CA645372732
single nucleotide variant	NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)	MLH1	Likely pathogenic	3	37059000	37059000	G	C	reviewed by expert panel	ClinGen:CA352045762