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
Deletion	NM_000179.3(MSH6):c.422del (p.Gly141fs)	MSH6	Pathogenic	2	48018224	48018224	AG	A	criteria provided, single submitter	ClinGen:CA658655680
single nucleotide variant	NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)	MSH6	Pathogenic	2	48026818	48026818	G	T	criteria provided, single submitter	ClinGen:CA346747546
Deletion	NM_000179.3(MSH6):c.2494del (p.Pro831_Leu832insTer)	MSH6	Pathogenic	2	48027613	48027613	TC	T	criteria provided, single submitter	ClinGen:CA658655817
Deletion	NM_000179.3(MSH6):c.631_634del (p.Gly211fs)	MSH6	Pathogenic	2	48025752	48025755	TAGGC	T	criteria provided, single submitter	ClinGen:CA658655704
Deletion	NM_000179.3(MSH6):c.643del (p.Tyr214_Val215insTer)	MSH6	Pathogenic	2	48025765	48025765	CG	C	criteria provided, single submitter	ClinGen:CA658655708
single nucleotide variant	NM_000179.3(MSH6):c.260+1G>C	MSH6	Likely pathogenic	2	48010633	48010633	G	C	criteria provided, single submitter	ClinGen:CA346735200
Duplication	NM_000179.3(MSH6):c.850dup (p.Asp284fs)	MSH6	Pathogenic	2	48025967	48025968	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655714
Duplication	NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)	MSH6	Pathogenic	2	48025818	48025819	G	GC	criteria provided, single submitter	ClinGen:CA658655712
Deletion	NM_000179.3(MSH6):c.2550_2551del (p.Tyr850_Ser851delinsTer)	MSH6	Pathogenic	2	48027671	48027672	TAC	T	criteria provided, single submitter	ClinGen:CA658655654
single nucleotide variant	NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn)	MSH6	Pathogenic/Likely pathogenic	2	48027681	48027681	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346754639