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.(?_5986753)_(5997429_?)del	PMS2	Pathogenic	7	6026384	6037060	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5973393)_(5973548_?)del	PMS2	Pathogenic	7	6013024	6013179	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5991967)_(5997429_?)del	PMS2	Pathogenic	7	6031598	6037060	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)	PMS2	Pathogenic	7	6027245	6027245	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA366742692
Duplication	NC_000007.13:g.(?_6026384)_(6027257_?)dup	PMS2	Likely pathogenic	7	6026384	6027257	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986753)_(5992063_?)del	PMS2	Pathogenic	7	6026384	6031694	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5995528)_(5995639_?)del	PMS2	Pathogenic	7	6035159	6035270	na	na	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.2016del (p.Met672fs)	PMS2	Pathogenic	7	6022613	6022613	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655965
single nucleotide variant	NM_000535.7(PMS2):c.2006+1G>A	PMS2	Likely pathogenic	7	6026389	6026389	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366738839
Deletion	NM_000535.7(PMS2):c.1068del (p.Thr357fs)	PMS2	Pathogenic	7	6029507	6029507	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655987