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
Indel	NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer)	MSH6	Pathogenic	2	48026736	48026737	TC	AG	reviewed by expert panel	ClinGen:CA008881
Indel	NM_000179.3(MSH6):c.1614_1615delinsG (p.Tyr538_Leu539delinsTer)	MSH6	Pathogenic	2	48026736	48026737	TC	G	reviewed by expert panel	ClinGen:CA008889
Deletion	NM_000179.3(MSH6):c.1628_1629del (p.Lys543fs)	MSH6	Pathogenic	2	48026749	48026750	CAA	C	reviewed by expert panel	ClinGen:CA008935
Deletion	NM_000179.3(MSH6):c.1632_1635del (p.Lys545fs)	MSH6	Pathogenic	2	48026753	48026756	GAAAA	G	reviewed by expert panel	ClinGen:CA008947
Deletion	NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)	MSH6	Pathogenic	2	48026755	48026758	AAAAG	A	reviewed by expert panel	ClinGen:CA008965
Deletion	NM_000179.3(MSH6):c.1784del (p.Leu595fs)	MSH6	Pathogenic	2	48026903	48026903	GT	G	reviewed by expert panel	ClinGen:CA009184
Deletion	NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)	MSH6	Pathogenic	2	48026928	48026931	CAAAG	C	reviewed by expert panel	ClinGen:CA009238
Duplication	NM_000179.3(MSH6):c.1819dup (p.Thr607fs)	MSH6	Pathogenic	2	48026937	48026938	T	TA	reviewed by expert panel	ClinGen:CA330389
single nucleotide variant	NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)	MSH6	Pathogenic	2	48026957	48026957	C	A	reviewed by expert panel	ClinGen:CA009299
Deletion	NM_000179.3(MSH6):c.1869del (p.Gly624fs)	MSH6	Pathogenic	2	48026989	48026989	AC	A	reviewed by expert panel	ClinGen:CA009372