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_001040108.2(MLH3):c.2116del (p.Thr706fs)	MLH3	Likely pathogenic	14	75514243	75514243	GT	G	criteria provided, single submitter	ClinGen:CA204588
Deletion	NM_000535.7(PMS2):c.741del (p.Ser248fs)	PMS2	Pathogenic/Likely pathogenic	7	6037019	6037019	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.2275+1G>C	PMS2	Pathogenic/Likely pathogenic	7	6018226	6018226	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000007.13:g.(?_6045513)_(6045672_?)dup	PMS2	Likely pathogenic	7	6045513	6045672	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5999098)_(5999285_?)del	PMS2	Pathogenic	7	6038729	6038916	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5973389)_(5973552_?)del	PMS2	Pathogenic	7	6013020	6013183	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986749)_(5995643_?)del	PMS2	Pathogenic	7	6026380	6035274	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5999098)_(6006041_?)del	PMS2	Pathogenic	7	6038729	6045672	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986749)_(5992067_?)del	PMS2	Pathogenic	7	6026380	6031698	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5986749)_(5989965_?)del	PMS2	Pathogenic	7	6026380	6029596	na	na	criteria provided, single submitter	-