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_000535.7(PMS2):c.1672del (p.Thr558fs)	PMS2	Pathogenic	7	6026724	6026724	GT	G	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)	PMS2	Pathogenic	7	6026911	6026924	GCCCCGAGTCCTTCT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter)	PMS2	Pathogenic	7	6026915	6026915	G	T	criteria provided, single submitter	-
Duplication	NM_000535.7(PMS2):c.1313dup (p.Thr439fs)	PMS2	Pathogenic	7	6027082	6027083	C	CT	criteria provided, single submitter	-
Insertion	NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter)	PMS2	Pathogenic	7	6027156	6027157	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.803+1G>T	PMS2	Pathogenic/Likely pathogenic	7	6036956	6036956	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_36993051)_(37028942_?)del	MLH1	Pathogenic	3	37034542	37070433	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_36993051)_(37050663_?)del	MLH1	Pathogenic	3	37034542	37092154	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37050480)_(37050659_?)del	MLH1	Pathogenic	3	37091971	37092150	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.301G>C (p.Gly101Arg)	MLH1	Likely pathogenic	3	37042539	37042539	G	C	criteria provided, multiple submitters, no conflicts	-