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
Deletion	NM_000179.3(MSH6):c.2371del (p.Arg791fs)	MSH6	Pathogenic	2	48027493	48027493	TC	T	criteria provided, single submitter	ClinGen:CA10602887
Duplication	NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)	MSH6	Pathogenic	2	48033755	48033755	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10607096
single nucleotide variant	NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)	MSH2	Pathogenic/Likely pathogenic	2	47641421	47641421	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042056
Duplication	NM_000179.3(MSH6):c.908dup (p.Met303fs)	MSH6	Pathogenic/Likely pathogenic	2	48026029	48026030	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042059
Deletion	NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)	MSH6	Pathogenic/Likely pathogenic	2	48030598	48030605	GATGGTCCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042061
Deletion	NM_001354629.2(MLH1):c.208-3445_208-3433del	MLH1	Pathogenic/Likely pathogenic	3	37042445	37042457	AGAAAGAAGATCTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042067
single nucleotide variant	NM_000249.4(MLH1):c.454-1G>C	MLH1	Pathogenic/Likely pathogenic	3	37050304	37050304	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042068
single nucleotide variant	NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)	MLH1	Pathogenic/Likely pathogenic	3	37067308	37067308	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042072
single nucleotide variant	NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)	MLH1	Pathogenic/Likely pathogenic	3	37067467	37067467	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042073
Deletion	NM_000249.4(MLH1):c.1409+1_1409+6del	MLH1	Likely pathogenic	3	37067498	37067503	AGGTATG	A	criteria provided, single submitter	ClinGen:CA16042074