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
Indel	NM_000249.3(MLH1):c.2148_2168del21ins5	MLH1	Pathogenic	3	37092021	37092041	na	na	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.2162del (p.Tyr721fs)	MLH1	Pathogenic/Likely pathogenic	3	37092035	37092035	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008964
single nucleotide variant	NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)	PMS2	Pathogenic/Likely pathogenic	7	6013113	6013113	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011600
Deletion	NM_000535.7(PMS2):c.2156del (p.Gln719fs)	PMS2	Pathogenic	7	6022473	6022473	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010928
single nucleotide variant	NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)	PMS2	Pathogenic	7	6026415	6026415	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010597
Deletion	NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)	PMS2	Pathogenic	7	6026522	6026522	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010377
single nucleotide variant	NM_000535.7(PMS2):c.1411C>T (p.Gln471Ter)	PMS2	Pathogenic	7	6026985	6026985	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009639
single nucleotide variant	NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)	PMS2	Pathogenic	7	6035259	6035259	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012910
single nucleotide variant	NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)	PMS2	Pathogenic	7	6036995	6036995	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012753
single nucleotide variant	NM_000535.7(PMS2):c.706-2A>C	PMS2	Likely pathogenic	7	6037056	6037056	T	G	criteria provided, single submitter	ClinGen:CA012617