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.251-2A>C	PMS2	Pathogenic/Likely pathogenic	7	6043425	6043425	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578724
single nucleotide variant	NM_000535.7(PMS2):c.2T>G (p.Met1Arg)	PMS2	Pathogenic/Likely pathogenic	7	6048649	6048649	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578738
single nucleotide variant	NM_002354.3(EPCAM):c.133C>T (p.Gln45Ter)	EPCAM	Pathogenic	2	47600658	47600658	C	T	criteria provided, single submitter	ClinGen:CA10581976
single nucleotide variant	NM_002354.3(EPCAM):c.429G>A (p.Trp143Ter)	EPCAM	Pathogenic	2	47602376	47602376	G	A	criteria provided, single submitter	ClinGen:CA10581979
single nucleotide variant	NM_002354.3(EPCAM):c.523C>T (p.Gln175Ter)	EPCAM	Pathogenic	2	47604184	47604184	C	T	criteria provided, single submitter	ClinGen:CA10581981
single nucleotide variant	NM_002354.3(EPCAM):c.904-2A>G	EPCAM	Likely pathogenic	2	47613709	47613709	A	G	criteria provided, single submitter	ClinGen:CA10581985
single nucleotide variant	NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)	MSH2	Pathogenic/Likely pathogenic	2	47635668	47635668	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581993
single nucleotide variant	NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)	MSH2	Pathogenic	2	47639697	47639697	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582002
Deletion	NM_000251.3(MSH2):c.1404_1410del (p.Phe468fs)	MSH2	Pathogenic	2	47690187	47690193	TCCTTGTA	T	criteria provided, single submitter	ClinGen:CA10582014
Deletion	NM_000251.3(MSH2):c.2150_2153del (p.Ser717fs)	MSH2	Pathogenic	2	47703648	47703651	ACAGT	A	criteria provided, single submitter	ClinGen:CA10582021