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.1570G>A (p.Asp524Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30732957	30732957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020712
single nucleotide variant	NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)	MSH2	Pathogenic	2	47637458	47637458	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021507
Duplication	NM_000251.3(MSH2):c.1157dup (p.Asp386fs)	MSH2	Pathogenic	2	47656960	47656961	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA017378
single nucleotide variant	NM_000251.3(MSH2):c.1525A>T (p.Lys509Ter)	MSH2	Pathogenic	2	47693811	47693811	A	T	criteria provided, single submitter	ClinGen:CA018547
Deletion	NM_000251.3(MSH2):c.1916_1919del (p.His639fs)	MSH2	Pathogenic	2	47702318	47702321	GGCAT	G	criteria provided, single submitter	ClinGen:CA019558
Insertion	NM_000179.3(MSH6):c.702_703insT (p.Thr235fs)	MSH6	Pathogenic	2	48025824	48025825	G	GT	criteria provided, single submitter	ClinGen:CA016288
single nucleotide variant	NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)	MSH6	Pathogenic	2	48026927	48026927	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009231
Deletion	NM_000179.3(MSH6):c.1842del (p.Cys615fs)	MSH6	Pathogenic	2	48026963	48026963	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009306
Deletion	NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)	MSH6	Pathogenic	2	48027954	48027955	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010983
Duplication	NM_000179.3(MSH6):c.3523_3524dup (p.Arg1176fs)	MSH6	Pathogenic	2	48032132	48032133	T	TAC	criteria provided, single submitter	ClinGen:CA013291