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_000249.4(MLH1):c.1246A>T (p.Lys416Ter)	MLH1	Pathogenic	3	37067335	37067335	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349641
single nucleotide variant	NM_000249.4(MLH1):c.1558+1G>A	MLH1	Pathogenic/Likely pathogenic	3	37070424	37070424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348840
single nucleotide variant	NM_000249.4(MLH1):c.2177C>G (p.Ser726Ter)	MLH1	Pathogenic/Likely pathogenic	3	37092050	37092050	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA348540
Deletion	NM_000535.5(PMS2):c.538-?_903+?del	PMS2	Pathogenic	7	6035165	6038906	na	na	criteria provided, single submitter	-
Duplication	NM_000535.7(PMS2):c.1750dup (p.Ile584fs)	PMS2	Pathogenic	7	6026645	6026646	A	AT	criteria provided, single submitter	ClinGen:CA348078
single nucleotide variant	NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)	PMS2	Pathogenic	7	6045565	6045565	C	A	criteria provided, single submitter	ClinGen:CA348188
single nucleotide variant	NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)	TGFBR2	Likely pathogenic	3	30713727	30713727	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351866
Duplication	NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)	MSH2	Pathogenic	2	47657004	47657005	C	CTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA357788
Deletion	NM_000179.3(MSH6):c.1352del (p.Phe451fs)	MSH6	Pathogenic/Likely pathogenic	2	48026473	48026473	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357787
Indel	NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)	MLH1	Pathogenic	3	37035063	37035064	CG	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA357820