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.(?_5986749)_(5987630_?)del	PMS2	Pathogenic	7	6026380	6027261	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)	PMS2	Pathogenic	7	6042143	6042143	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.648C>A (p.Cys216Ter)	PMS2	Pathogenic	7	6038796	6038796	G	T	criteria provided, single submitter	-
Duplication	NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)	PMS2	Pathogenic	7	6037036	6037037	A	AAGGAATG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)	PMS2	Pathogenic	7	6027219	6027219	C	A	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1366del (p.Ser456fs)	PMS2	Pathogenic	7	6027030	6027030	GA	G	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1553del (p.Glu518fs)	PMS2	Pathogenic	7	6026843	6026843	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter)	PMS2	Pathogenic	7	6022606	6022606	C	A	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.2249del (p.Gly750fs)	PMS2	Pathogenic	7	6018253	6018253	GC	G	criteria provided, single submitter	-
Indel	NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)	PMS2	Likely pathogenic	7	6037019	6037027	AGGGGGCAG	CTTCACAACACAGC	criteria provided, single submitter	-