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_000251.3(MSH2):c.1210del (p.Cys404fs)	MSH2	Pathogenic	2	47657013	47657013	AT	A	criteria provided, single submitter	ClinGen:CA017506
single nucleotide variant	NM_000535.7(PMS2):c.2531C>A (p.Pro844His)	PMS2	Likely pathogenic	7	6013088	6013088	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011663
Deletion	NM_000179.3(MSH6):c.1290del (p.Lys431fs)	MSH6	Pathogenic	2	48026409	48026409	TG	T	criteria provided, single submitter	ClinGen:CA008445
single nucleotide variant	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	TGFBR2	Likely pathogenic	3	30715724	30715724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020670
Deletion	NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)	MSH6	Pathogenic	2	48026824	48026825	GTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009079
single nucleotide variant	NM_002354.3(EPCAM):c.492-2A>G	EPCAM	Pathogenic	2	47604151	47604151	A	G	criteria provided, single submitter	ClinGen:CA171017,OMIM:185535.0008
single nucleotide variant	NM_000535.7(PMS2):c.1144+1G>A	PMS2	Pathogenic/Likely pathogenic	7	6029430	6029430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009232
Deletion	NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)	TGFBR2	Likely pathogenic	3	30732933	30732944	GTGAGACGTTGAC	G	criteria provided, single submitter	ClinGen:CA10575669
single nucleotide variant	NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)	TGFBR2	Pathogenic/Likely pathogenic	3	30713534	30713534	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020788
single nucleotide variant	NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	TGFBR2	Pathogenic	3	30713742	30713742	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020594