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_000249.4(MLH1):c.1956_1957del (p.Leu653fs)	MLH1	Pathogenic	3	37090067	37090068	GAC	G	criteria provided, single submitter	ClinGen:CA658796263
single nucleotide variant	NM_000249.4(MLH1):c.453+1G>C	MLH1	Pathogenic/Likely pathogenic	3	37048555	37048555	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352039454
single nucleotide variant	NM_000249.4(MLH1):c.677+2T>C	MLH1	Pathogenic	3	37053592	37053592	T	C	criteria provided, single submitter	ClinGen:CA352042899
single nucleotide variant	NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu)	TGFBR2	Pathogenic	3	30715721	30715721	G	T	criteria provided, single submitter	ClinGen:CA351809138
single nucleotide variant	NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg)	TGFBR2	Pathogenic	3	30713805	30713805	A	G	criteria provided, single submitter	ClinGen:CA351808600
single nucleotide variant	NM_000249.4(MLH1):c.207+2T>G	MLH1	Pathogenic	3	37038202	37038202	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352035502
single nucleotide variant	NM_000249.4(MLH1):c.1942C>G (p.Pro648Ala)	MLH1	Likely pathogenic	3	37090053	37090053	C	G	criteria provided, single submitter	ClinGen:CA352065736
single nucleotide variant	NM_000249.4(MLH1):c.1731G>T (p.Ser577=)	MLH1	Pathogenic/Likely pathogenic	3	37083822	37083822	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA433084376
single nucleotide variant	NM_000249.4(MLH1):c.2212G>T (p.Gly738Ter)	MLH1	Pathogenic	3	37092085	37092085	G	T	criteria provided, single submitter	ClinGen:CA352069570
Deletion	NC_000007.14:g.(?_5986753)_(6002642_?)del	PMS2	Pathogenic	7	6026384	6042273	na	na	criteria provided, single submitter	-