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_000535.7(PMS2):c.2445+1G>T	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577331
single nucleotide variant	NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)	PMS2	Pathogenic/Likely pathogenic	7	6013097	6013097	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577334
Deletion	NM_000535.7(PMS2):c.1778del (p.Lys593fs)	PMS2	Pathogenic/Likely pathogenic	7	6026618	6026618	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA045540
single nucleotide variant	NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)	PMS2	Pathogenic	7	6038813	6038813	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA050695
single nucleotide variant	NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)	PMS2	Pathogenic/Likely pathogenic	7	6048644	6048644	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577360
Deletion	NM_000251.3(MSH2):c.160del (p.Ala54fs)	MSH2	Pathogenic	2	47630490	47630490	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577922
Indel	NM_000251.3(MSH2):c.212-1_221delinsCAC	MSH2	Pathogenic	2	47635539	47635549	GGAGCAAAGAA	CAC	criteria provided, single submitter	ClinGen:CA10577925
single nucleotide variant	NM_000251.3(MSH2):c.645+2T>G	MSH2	Pathogenic/Likely pathogenic	2	47637513	47637513	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577943
Deletion	NM_000251.3(MSH2):c.731del (p.Leu244fs)	MSH2	Pathogenic	2	47639637	47639637	GT	G	criteria provided, single submitter	ClinGen:CA10577947
single nucleotide variant	NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)	MSH2	Pathogenic/Likely pathogenic	2	47643504	47643504	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577964