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
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
single nucleotide variant	NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys)	TGFBR2	Pathogenic	3	30715613	30715613	A	G	criteria provided, single submitter	ClinGen:CA10582147
Deletion	NM_003242.6(TGFBR2):c.1529del (p.Ile510fs)	TGFBR2	Likely pathogenic	3	30732916	30732916	AT	A	criteria provided, single submitter	ClinGen:CA10582148
Duplication	NM_000249.4(MLH1):c.38dup (p.Thr14fs)	MLH1	Pathogenic	3	37035075	37035076	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582152
Duplication	NM_000249.4(MLH1):c.826dup (p.Ile276fs)	MLH1	Pathogenic	3	37059031	37059032	C	CA	criteria provided, single submitter	ClinGen:CA10582160
Deletion	NM_000249.4(MLH1):c.1441del (p.Met481fs)	MLH1	Pathogenic	3	37070304	37070304	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582172
Duplication	NM_000249.4(MLH1):c.1456dup (p.Ser486fs)	MLH1	Pathogenic	3	37070319	37070320	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582173
single nucleotide variant	NM_000249.4(MLH1):c.1667+2T>C	MLH1	Likely pathogenic	3	37081787	37081787	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582175
Deletion	NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)	MLH1	Pathogenic	3	37090448	37090449	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582183
Duplication	NM_000249.4(MLH1):c.2249dup (p.Tyr750Ter)	MLH1	Pathogenic	3	37092121	37092122	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582185