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.3660_3663dup (p.Phe1222fs)	MSH6	Pathogenic/Likely pathogenic	2	48033355	48033356	C	CAACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA071808
Duplication	NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs)	MSH6	Pathogenic/Likely pathogenic	2	48033392	48033393	T	TAAAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369301
Duplication	NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)	MSH6	Likely pathogenic	2	48033395	48033396	A	AGAACTT	criteria provided, single submitter	ClinGen:CA645369302
Duplication	NM_000179.3(MSH6):c.3716dup (p.Cys1241fs)	MSH6	Pathogenic	2	48033411	48033412	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369303
Insertion	NM_000179.3(MSH6):c.3789_3790insTAGC (p.Leu1264Ter)	MSH6	Pathogenic	2	48033483	48033484	C	CGCTA	criteria provided, single submitter	ClinGen:CA645369291
Duplication	NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)	MSH6	Pathogenic/Likely pathogenic	2	48033629	48033630	G	GGAGACTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369292
Duplication	NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs)	MSH6	Pathogenic	2	48033634	48033635	C	CTATT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369293
Duplication	NM_000179.3(MSH6):c.3851_3872dup (p.Lys1291delinsAsnValProLeuTer)	MSH6	Pathogenic	2	48033638	48033639	T	TACGTTCCTCTATAAATTCATTA	criteria provided, single submitter	ClinGen:CA645369294
Duplication	NM_000179.3(MSH6):c.3896_3917dup (p.Ala1306_Asn1307insLeuTer)	MSH6	Pathogenic	2	48033684	48033685	G	GGCTTTAATGCAGCAAGGCTTGC	criteria provided, single submitter	ClinGen:CA645369295
Deletion	NM_000179.3(MSH6):c.3920del (p.Asn1307fs)	MSH6	Pathogenic	2	48033708	48033708	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369297