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	NC_000007.14:g.(?_6005886)_(6006037_?)del	PMS2	Pathogenic	7	6045517	6045668	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5999102)_(6009025_?)del	PMS2	Pathogenic	7	6038733	6048656	na	na	criteria provided, single submitter	-
Duplication	NC_000007.13:g.(?_6036951)_(6038912_?)dup	PMS2	Likely pathogenic	7	6036951	6038912	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.1959T>A (p.Cys653Ter)	PMS2	Pathogenic	7	6026437	6026437	A	T	criteria provided, single submitter	ClinGen:CA366739075
Deletion	NM_000535.7(PMS2):c.1559del (p.Ala520fs)	PMS2	Pathogenic	7	6026837	6026837	CG	C	criteria provided, single submitter	ClinGen:CA658796889
Indel	NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer)	PMS2	Pathogenic	7	6017336	6017340	CCAGT	TCAGC	criteria provided, single submitter	ClinGen:CA658796883
single nucleotide variant	NM_000535.7(PMS2):c.1264G>T (p.Glu422Ter)	PMS2	Pathogenic	7	6027132	6027132	C	A	criteria provided, single submitter	ClinGen:CA366742456
single nucleotide variant	NM_000535.7(PMS2):c.903+1G>C	PMS2	Pathogenic/Likely pathogenic	7	6035164	6035164	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA366743395
Deletion	NM_000535.7(PMS2):c.1746del (p.Glu583fs)	PMS2	Pathogenic	7	6026650	6026650	CT	C	criteria provided, single submitter	ClinGen:CA658796887
single nucleotide variant	NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)	PMS2	Pathogenic	7	6029539	6029539	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366742939