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.3939dup (p.Gln1314fs)	MSH6	Pathogenic/Likely pathogenic	2	48033726	48033727	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA072328
single nucleotide variant	NM_000179.3(MSH6):c.3724C>G (p.Arg1242Gly)	MSH6	Likely pathogenic	2	48033420	48033420	C	G	criteria provided, single submitter	ClinGen:CA346761027
Duplication	NM_000179.3(MSH6):c.3813dup (p.Glu1272fs)	MSH6	Pathogenic	2	48033601	48033602	T	TA	criteria provided, single submitter	ClinGen:CA658655744
Duplication	NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)	MSH6	Pathogenic/Likely pathogenic	2	48033603	48033604	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655746
Deletion	NM_000179.3(MSH6):c.3880_3892del (p.Cys1294fs)	MSH6	Pathogenic	2	48033665	48033677	GAGCTTGTCCTAAA	G	criteria provided, single submitter	ClinGen:CA658655760
Deletion	NC_000003.11:g.(?_37038104)_(37092150_?)del	MLH1	Pathogenic	3	37038104	37092150	na	na	criteria provided, single submitter	-
Deletion	NC_000003.11:g.(?_37034542)_(37050402_?)del	MLH1	Pathogenic	3	37034542	37050402	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_36993051)_(37050659_?)del	MLH1	Pathogenic	3	37034542	37092150	na	na	criteria provided, single submitter	-
Duplication	NC_000003.11:g.(?_37053305)_(37083828_?)dup	MLH1	Likely pathogenic	3	37053305	37083828	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.1006T>G (p.Tyr336Asp)	TGFBR2	Pathogenic	3	30713681	30713681	T	G	criteria provided, single submitter	ClinGen:CA351808352