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.3091dup (p.Asp1031fs)	MSH6	Pathogenic	2	48028211	48028212	A	AG	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3209del (p.Gly1070fs)	MSH6	Pathogenic	2	48030591	48030591	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3223dup (p.Cys1075fs)	MSH6	Pathogenic	2	48030608	48030609	G	GT	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.3383_3384dup (p.Cys1129fs)	MSH6	Pathogenic	2	48030767	48030768	C	CTA	criteria provided, single submitter	-
Indel	NM_000179.3(MSH6):c.3522_3524delinsAT (p.Phe1174fs)	MSH6	Pathogenic	2	48032132	48032134	TAC	AT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs)	MSH6	Pathogenic	2	48033469	48033470	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)	MSH6	Pathogenic	2	48033489	48033489	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3808_3824dup (p.Cys1275Ter)	MSH6	Pathogenic	2	48033596	48033597	C	CATGGTAGAAAATGAATG	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3830_3833del (p.Asp1277fs)	MSH6	Pathogenic	2	48033619	48033622	GACCC	G	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3972_3979del (p.Lys1325fs)	MSH6	Pathogenic	2	48033758	48033765	TTGAGAAGA	T	criteria provided, single submitter	-