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.390C>G (p.Tyr130Ter)	MLH1	Pathogenic	3	37048491	37048491	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611203
single nucleotide variant	NM_000249.4(MLH1):c.699T>A (p.Cys233Ter)	MLH1	Pathogenic	3	37055944	37055944	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611207
Duplication	NM_000249.4(MLH1):c.1047dup (p.Pro350fs)	MLH1	Pathogenic	3	37067135	37067136	T	TA	criteria provided, single submitter	ClinGen:CA16611218
Deletion	NC_000003.12:g.(?_37011820)_(37017599_?)del	MLH1	Likely pathogenic	3	37053311	37059090	na	na	criteria provided, single submitter	-
Deletion	NM_000249.3(MLH1):c.1559-?_1667+?del	MLH1	Pathogenic	3	37081677	37081785	na	na	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.2259del (p.Phe753fs)	MLH1	Pathogenic	3	37092130	37092130	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611255
Duplication	NM_000249.4(MLH1):c.1105dup (p.Ser369fs)	MLH1	Pathogenic	3	37067193	37067194	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611256
Deletion	NM_000249.4(MLH1):c.2136del (p.Ser711_Trp712insTer)	MLH1	Pathogenic	3	37092008	37092008	TG	T	criteria provided, single submitter	ClinGen:CA16611269
single nucleotide variant	NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys)	TGFBR2	Pathogenic	3	30715688	30715688	C	G	criteria provided, single submitter	ClinGen:CA16611314
Duplication	NM_000249.4(MLH1):c.129dup (p.Ser44fs)	MLH1	Pathogenic	3	37038118	37038119	C	CA	criteria provided, single submitter	ClinGen:CA16611315