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.1276G>A (p.Ala426Thr)	TGFBR2	Pathogenic	3	30715618	30715618	G	A	criteria provided, single submitter	ClinGen:CA321583
single nucleotide variant	NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp)	TGFBR2	Pathogenic	3	30715619	30715619	C	A	criteria provided, single submitter	ClinGen:CA323900
single nucleotide variant	NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser)	TGFBR2	Likely pathogenic	3	30715621	30715621	C	T	criteria provided, single submitter	ClinGen:CA319801
single nucleotide variant	NM_003242.6(TGFBR2):c.1338T>G (p.Asp446Glu)	TGFBR2	Likely pathogenic	3	30715680	30715680	T	G	criteria provided, single submitter	ClinGen:CA321430
single nucleotide variant	NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	TGFBR2	Pathogenic/Likely pathogenic	3	30729968	30729968	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323609,OMIM:190182.0020
Deletion	NM_000251.2(MSH2):c.(?_-1)_1076+?del	MSH2	Pathogenic	2	47630330	47643568	na	na	criteria provided, single submitter	-
Deletion	NM_000251.2(MSH2):c.1662-?_*(1_?)del	MSH2	Pathogenic	2	47698104	47710089	na	na	criteria provided, single submitter	-
Deletion	NM_000179.2(MSH6):c.(?_-1)_457+?del	MSH6	Pathogenic	2	48010372	48018262	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002354.3(EPCAM):c.859-1G>A	EPCAM	Likely pathogenic	2	47612304	47612304	G	A	criteria provided, single submitter	ClinGen:CA338654
Deletion	NM_000251.3(MSH2):c.141_154del (p.Glu48fs)	MSH2	Pathogenic	2	47630471	47630484	GCGAGGACGCGCTGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA338747