リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg)	TGFBR2	Likely pathogenic	3	30729989	30729989	T	C	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.63_82del (p.Gly22fs)	MLH1	Pathogenic	3	37035096	37035115	CGCGGCGGGGGAAGTTATCCA	C	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.77del (p.Gln26fs)	MLH1	Pathogenic	3	37035115	37035115	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.320T>A (p.Ile107Lys)	MLH1	Pathogenic/Likely pathogenic	3	37045905	37045905	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000249.4(MLH1):c.632del (p.Ala210_Ser211insTer)	MLH1	Pathogenic	3	37053545	37053545	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.768C>A (p.Cys256Ter)	MLH1	Pathogenic	3	37056013	37056013	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)	MLH1	Pathogenic	3	37067422	37067422	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000249.4(MLH1):c.1745_1758del (p.Leu582fs)	MLH1	Pathogenic	3	37089022	37089035	GCTCTTTGACCTTGC	G	criteria provided, single submitter	-
Indel	NM_000249.4(MLH1):c.1818delinsCTT (p.Leu607fs)	MLH1	Pathogenic	3	37089096	37089096	A	CTT	criteria provided, single submitter	-
Duplication	NM_000249.4(MLH1):c.1824_1825dup (p.Glu609fs)	MLH1	Pathogenic	3	37089101	37089102	C	CTG	criteria provided, single submitter	-