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_000535.5(PMS2):c.(?_-87)_23+?del	PMS2	Pathogenic	7	6048628	6048737	na	na	reviewed by expert panel	-
Duplication	NM_000535.7(PMS2):c.1076dup (p.Leu359fs)	PMS2	Pathogenic	7	6029498	6029499	C	CA	reviewed by expert panel	ClinGen:CA331732
Indel	NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)	PMS2	Pathogenic	7	6029462	6029463	AT	TAAA	reviewed by expert panel	ClinGen:CA009196
single nucleotide variant	NM_000535.7(PMS2):c.1144+2T>A	PMS2	Likely pathogenic	7	6029429	6029429	A	T	reviewed by expert panel	ClinGen:CA009239,OMIM:600259.0008
Deletion	NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)	PMS2	Pathogenic	7	6013174	6029430	na	na	reviewed by expert panel	LOVD 3:PMS2_00080,PMS2 @ LOVD:PMS2_00080,OMIM:600259.0018
Insertion	NM_000535.6(PMS2):c.1169_1170ins20 (p.?)	PMS2	Pathogenic	7	6027226	6027227	na	na	reviewed by expert panel	OMIM:600259.0013
single nucleotide variant	NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	PMS2	Pathogenic	7	6027135	6027135	G	A	reviewed by expert panel	ClinGen:CA009431
Duplication	NM_000535.7(PMS2):c.1306dup (p.Ser436fs)	PMS2	Pathogenic	7	6027089	6027090	C	CT	reviewed by expert panel	ClinGen:CA331735,OMIM:600259.0017
single nucleotide variant	NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)	PMS2	Pathogenic/Likely pathogenic	7	6045549	6045549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009592
single nucleotide variant	NM_000535.7(PMS2):c.163+2T>C	PMS2	Likely pathogenic	7	6045521	6045521	A	G	reviewed by expert panel	ClinGen:CA009959