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.2653A>T (p.Lys885Ter)	MSH6	Pathogenic	2	48027775	48027775	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010661
single nucleotide variant	NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	PMS2	Pathogenic	7	6045598	6045598	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013182
Deletion	NM_000179.3(MSH6):c.1900_1901del (p.Leu634fs)	MSH6	Pathogenic	2	48027021	48027022	CTT	C	criteria provided, single submitter	ClinGen:CA009413
single nucleotide variant	NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	MSH2	Pathogenic/Likely pathogenic	2	47630541	47630541	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020066
single nucleotide variant	NM_000251.3(MSH2):c.942+2T>C	MSH2	Pathogenic	2	47641559	47641559	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022578
Deletion	NM_000535.7(PMS2):c.2117del (p.Lys706fs)	PMS2	Pathogenic	7	6022512	6022512	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010865
single nucleotide variant	NM_000535.7(PMS2):c.1A>T (p.Met1Leu)	PMS2	Pathogenic/Likely pathogenic	7	6048650	6048650	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010652
Deletion	NM_000535.7(PMS2):c.746_753del (p.Asp249fs)	PMS2	Pathogenic	7	6037007	6037014	ACACGGAGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012718
Deletion	NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)	MSH6	Pathogenic	2	48028156	48028160	TGAAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011409
single nucleotide variant	NM_000249.4(MLH1):c.117-2A>G	MLH1	Pathogenic	3	37038108	37038108	A	G	reviewed by expert panel	ClinGen:CA004620