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.1563G>A (p.Trp521Ter)	TGFBR2	Likely pathogenic	3	30732950	30732950	G	A	criteria provided, single submitter	ClinGen:CA351809564
Insertion	NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs)	EPCAM	Pathogenic	2	47601135	47601136	A	AC	criteria provided, single submitter	ClinGen:CA658683183
single nucleotide variant	NM_000179.3(MSH6):c.3173-2A>T	MSH6	Pathogenic	2	48030557	48030557	A	T	criteria provided, single submitter	ClinGen:CA346757807
Duplication	NM_000251.3(MSH2):c.454dup (p.Met152fs)	MSH2	Pathogenic	2	47637316	47637317	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683186
Deletion	NM_000251.3(MSH2):c.858del (p.Phe286fs)	MSH2	Pathogenic	2	47641471	47641471	CT	C	criteria provided, single submitter	ClinGen:CA658683223
Deletion	NM_000251.3(MSH2):c.1143del (p.Arg382fs)	MSH2	Pathogenic	2	47656946	47656946	CT	C	criteria provided, single submitter	ClinGen:CA658683234
single nucleotide variant	NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)	MSH2	Pathogenic	2	47657029	47657029	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346734091
Duplication	NM_000179.3(MSH6):c.2913dup (p.Ile972fs)	MSH6	Pathogenic	2	48028030	48028031	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683241
Deletion	NM_000179.3(MSH6):c.1417del (p.Leu473fs)	MSH6	Pathogenic	2	48026537	48026537	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683244
single nucleotide variant	NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)	MSH6	Pathogenic	2	48026998	48026998	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346749937