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_000249.4(MLH1):c.1168G>T (p.Glu390Ter)	MLH1	Pathogenic	3	37067257	37067257	G	T	criteria provided, single submitter	ClinGen:CA10588357
single nucleotide variant	NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter)	MLH1	Pathogenic	3	37090402	37090402	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588358
single nucleotide variant	NM_000535.7(PMS2):c.2446-2A>G	PMS2	Likely pathogenic	7	6013175	6013175	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588431
single nucleotide variant	NM_000535.7(PMS2):c.537+1G>C	PMS2	Likely pathogenic	7	6042083	6042083	C	G	criteria provided, single submitter	ClinGen:CA10588432
Deletion	NM_000535.7(PMS2):c.139_146del (p.Leu47fs)	PMS2	Pathogenic/Likely pathogenic	7	6045540	6045547	AGCATCCAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588433
Deletion	NM_000251.2(MSH2):c.367-?_645+?del	MSH2	Pathogenic	2	47637233	47637511	na	na	criteria provided, single submitter	-
Deletion	NM_000251.2(MSH2):c.1077-?_1276+?del	MSH2	Pathogenic	2	47656881	47657080	na	na	criteria provided, single submitter	-
Deletion	NM_000251.2(MSH2):c.1387-?_1510+?del	MSH2	Pathogenic	2	47690170	47690293	na	na	criteria provided, single submitter	-
Deletion	NM_000535.6(PMS2):c.2276-?_2445+?del	PMS2	Pathogenic	7	6017219	6017388	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986753)_(6009025_?)del	PMS2	Pathogenic	7	6026384	6048656	na	na	criteria provided, single submitter	-