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.(?_5999098)_(6006041_?)del	PMS2	Pathogenic	7	6038729	6045672	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.(?_5973389)_(5973552_?)del	PMS2	Pathogenic	7	6013020	6013183	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	-
Duplication	NC_000007.13:g.(?_6045513)_(6045672_?)dup	PMS2	Likely pathogenic	7	6045513	6045672	na	na	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)	MSH6	Pathogenic/Likely pathogenic	2	48010396	48010396	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)	MSH6	Pathogenic/Likely pathogenic	2	48033708	48033709	A	AATCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)	MSH6	Pathogenic/Likely pathogenic	2	48033741	48033741	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.741del (p.Ser248fs)	PMS2	Pathogenic/Likely pathogenic	7	6037019	6037019	TA	T	criteria provided, multiple submitters, no conflicts	-