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.1351del (p.Arg451fs)	PMS2	Likely pathogenic	7	6027045	6027045	CT	C	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)	PMS2	Likely pathogenic	7	6026994	6027060	AGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGG	A	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.451del (p.Arg151fs)	PMS2	Pathogenic	7	6042170	6042170	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)	PMS2	Pathogenic	7	6031653	6031653	A	T	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1206del (p.Gln402fs)	PMS2	Pathogenic	7	6027190	6027190	AT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000535.7(PMS2):c.1639dup (p.Ser547fs)	PMS2	Pathogenic/Likely pathogenic	7	6026756	6026757	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.1908del (p.Gln637fs)	PMS2	Pathogenic	7	6026488	6026488	GT	G	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs)	PMS2	Pathogenic	7	6026483	6026487	TTGCTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)	PMS2	Pathogenic	7	6037030	6037030	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000535.7(PMS2):c.1144+1G>C	PMS2	Likely pathogenic	7	6029430	6029430	C	G	criteria provided, multiple submitters, no conflicts	-