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.1425_1428del (p.Ser476fs)	PMS2	Pathogenic	7	6026968	6026971	AACTC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655977
Deletion	NM_000535.7(PMS2):c.1164del (p.His388fs)	PMS2	Pathogenic	7	6027232	6027232	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655984
single nucleotide variant	NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)	PMS2	Pathogenic	7	6027051	6027051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366742291
Duplication	NM_000535.7(PMS2):c.1196dup (p.Gln400fs)	PMS2	Pathogenic	7	6027199	6027200	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655982
single nucleotide variant	NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)	PMS2	Pathogenic	7	6017251	6017251	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366735640
single nucleotide variant	NM_000535.7(PMS2):c.803+5G>A	PMS2	Likely pathogenic	7	6036952	6036952	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA153239468
Duplication	NM_000535.7(PMS2):c.119_122dup (p.Leu42fs)	PMS2	Pathogenic	7	6045563	6045564	C	CTCCT	criteria provided, single submitter	ClinGen:CA658657659
single nucleotide variant	NM_000535.7(PMS2):c.904-2A>C	PMS2	Likely pathogenic	7	6031690	6031690	T	G	criteria provided, single submitter	ClinGen:CA366743230
single nucleotide variant	NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)	PMS2	Pathogenic/Likely pathogenic	7	6043633	6043633	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA366744819
Indel	NM_000535.7(PMS2):c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGAT (p.Pro470delinsValPheTer)	PMS2	Pathogenic	7	6026988	6026988	G	ATCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGAC	criteria provided, single submitter	ClinGen:CA658655978