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.3980dup (p.Asn1327fs)	MSH6	Pathogenic	2	48033767	48033768	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA014981
Deletion	NM_000179.3(MSH6):c.3969_3979del (p.Phe1323fs)	MSH6	Pathogenic	2	48033758	48033768	TTGAGAAGATGA	T	reviewed by expert panel	ClinGen:CA014890
Deletion	NM_000179.3(MSH6):c.3972_3979del (p.Lys1325fs)	MSH6	Pathogenic	2	48033758	48033765	TTGAGAAGA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.3973A>T (p.Lys1325Ter)	MSH6	Pathogenic	2	48033762	48033762	A	T	criteria provided, single submitter	ClinGen:CA16610965
Deletion	NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)	MSH6	Pathogenic/Likely pathogenic	2	48033741	48033759	TAGAAAAGCAAGAGAATTTG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)	MSH6	Pathogenic	2	48033755	48033755	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10607096
single nucleotide variant	NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)	MSH6	Pathogenic	2	48033753	48033753	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346761548
Duplication	NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs)	MSH6	Pathogenic	2	48033748	48033749	C	CAAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683260
Deletion	NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	MSH6	Pathogenic	2	48033745	48033748	AAAGC	A	reviewed by expert panel	ClinGen:CA014833
Deletion	NM_000179.3(MSH6):c.3951_3960del (p.His1317fs)	MSH6	Pathogenic	2	48033738	48033747	ACATAGAAAAG	A	criteria provided, single submitter	ClinGen:CA658655770