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.3959_3962del (p.Ala1320fs)	MSH6	Pathogenic	2	48033745	48033748	AAAGC	A	reviewed by expert panel	ClinGen:CA014833
Deletion	NM_000179.3(MSH6):c.3957del (p.Ala1320fs)	MSH6	Pathogenic	2	48033743	48033743	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369289
Deletion	NM_000179.3(MSH6):c.3955_3980del (p.Lys1319fs)	MSH6	Pathogenic	2	48033743	48033768	GAAAAGCAAGAGAATTTGAGAAGATGA	G	criteria provided, single submitter	ClinGen:CA10578169
Duplication	NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)	MSH6	Pathogenic	2	48033742	48033743	G	GAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655771
Duplication	NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)	MSH6	Pathogenic/Likely pathogenic	2	48033742	48033743	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA072375
Insertion	NM_000179.2(MSH6):c.3953_3954ins32 (p.?)	MSH6	Pathogenic	2	48033742	48033743	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)	MSH6	Pathogenic/Likely pathogenic	2	48033741	48033741	A	T	criteria provided, multiple submitters, no conflicts	-
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.3951dup (p.Arg1318Ter)	MSH6	Pathogenic	2	48033739	48033740	A	AT	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3951_3952del (p.His1317fs)	MSH6	Pathogenic	2	48033739	48033740	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369288