リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

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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
Duplication	NM_000179.3(MSH6):c.3744_3753dup (p.Val1253fs)	MSH6	Pathogenic	2	48033436	48033437	C	CTCACTACCAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617709
Duplication	NM_000179.3(MSH6):c.3766dup (p.Tyr1256fs)	MSH6	Pathogenic	2	48033460	48033461	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617710
Deletion	NM_000179.3(MSH6):c.3849del (p.Thr1284fs)	MSH6	Pathogenic	2	48033637	48033637	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617712
Duplication	NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)	MSH6	Pathogenic/Likely pathogenic	2	48033665	48033666	A	AGCTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617713
Duplication	NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs)	MSH6	Pathogenic	2	48033683	48033684	T	TGGCTTTAATGCAGCAAGGCTTGCTAATCTCCCAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617714
Duplication	NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)	MSH6	Pathogenic	2	48033721	48033722	A	AAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617715
Deletion	NM_000249.4(MLH1):c.9_21del (p.Phe3fs)	MLH1	Pathogenic	3	37035044	37035056	CGTTCGTGGCAGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617879
Duplication	NM_000249.4(MLH1):c.67dup (p.Glu23fs)	MLH1	Pathogenic	3	37035100	37035101	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617880
Deletion	NM_000249.4(MLH1):c.94del (p.Ile32fs)	MLH1	Pathogenic	3	37035132	37035132	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617883
Deletion	NM_000249.4(MLH1):c.150_153del (p.Val51fs)	MLH1	Pathogenic	3	37038142	37038145	ATTGT	A	criteria provided, single submitter	ClinGen:CA16617885