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_001040108.2(MLH3):c.2116del (p.Thr706fs)	MLH3	Likely pathogenic	14	75514243	75514243	GT	G	criteria provided, single submitter	ClinGen:CA204588
Deletion	NM_000179.2(MSH6):c.3557-?_(*93_?)del	MSH6	Pathogenic	2	48032167	48034093	na	na	reviewed by expert panel	-
Deletion	NM_000179.2(MSH6):c.(?_-152)_(*93_?)del	MSH6	Pathogenic	2	48010221	48034092	na	na	reviewed by expert panel	-
Deletion	NC_000002.12:g.(?_47783224)_(47806870_?)del	MSH6	Pathogenic	2	48010363	48034009	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47783228)_(47806866_?)del	MSH6	Pathogenic	2	48010367	48034005	na	na	criteria provided, single submitter	-
Deletion	Single allele	MSH6	Pathogenic	2	48010373	48033999	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.4002-1G>A	MSH6	Likely pathogenic	2	48033917	48033917	G	A	criteria provided, single submitter	ClinGen:CA346761618
single nucleotide variant	NM_000179.3(MSH6):c.4002-2A>G	MSH6	Likely pathogenic	2	48033916	48033916	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582095
Inversion	NM_000179.3(MSH6):c.4002-31_4002-8inv	MSH6	Pathogenic	2	48033887	48033910	AAACTTTTTTTTTTTTTTTTTTAA	TTAAAAAAAAAAAAAAAAAAGTTT	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.4001+2T>C	MSH6	Pathogenic	2	48033792	48033792	T	C	reviewed by expert panel	ClinGen:CA015138