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.1794dup (p.Gly599fs)	MSH6	Pathogenic	2	48026911	48026912	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA009198
Deletion	NM_000179.3(MSH6):c.1819_1822del (p.Thr607fs)	MSH6	Pathogenic	2	48026939	48026942	AAAAC	A	criteria provided, single submitter	ClinGen:CA645369237
Deletion	NM_000179.3(MSH6):c.1871del (p.Gly624fs)	MSH6	Pathogenic	2	48026992	48026992	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA068216
Duplication	NM_000179.3(MSH6):c.1901dup (p.Leu634fs)	MSH6	Pathogenic	2	48027020	48027021	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369238
Deletion	NM_000179.3(MSH6):c.1937del (p.Lys646fs)	MSH6	Pathogenic	2	48027056	48027056	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA532705470
single nucleotide variant	NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)	MSH6	Pathogenic/Likely pathogenic	2	48027091	48027091	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346750600
Deletion	NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs)	MSH6	Pathogenic	2	48027208	48027214	TATTGATC	T	criteria provided, single submitter	ClinGen:CA645369265
Duplication	NM_000179.3(MSH6):c.2092dup (p.Gln698fs)	MSH6	Pathogenic	2	48027213	48027214	T	TC	criteria provided, single submitter	ClinGen:CA645369266
Deletion	NM_000179.3(MSH6):c.2165_2169del (p.Ser722fs)	MSH6	Pathogenic	2	48027286	48027290	ATCTGG	A	criteria provided, single submitter	ClinGen:CA645369267
Duplication	NM_000179.3(MSH6):c.2228dup (p.Leu743fs)	MSH6	Pathogenic	2	48027348	48027349	C	CT	criteria provided, single submitter	ClinGen:CA645369261