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.1687_1693del (p.Arg563fs)	PMS2	Pathogenic	7	6026703	6026709	AAAACTCG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618502
Deletion	NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)	PMS2	Pathogenic	7	6026816	6026817	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618505
single nucleotide variant	NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)	PMS2	Pathogenic	7	6035240	6035240	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618521
single nucleotide variant	NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)	PMS2	Pathogenic	7	6038789	6038789	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618526
Deletion	NM_000535.7(PMS2):c.537+1del	PMS2	Pathogenic/Likely pathogenic	7	6042083	6042083	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618530
Deletion	NM_000535.7(PMS2):c.510del (p.His170fs)	PMS2	Pathogenic	7	6042111	6042111	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618531
Duplication	NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)	PMS2	Pathogenic	7	6043602	6043603	C	CTTAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618538
single nucleotide variant	NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)	PMS2	Pathogenic	7	6043605	6043605	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618539
single nucleotide variant	NM_000535.7(PMS2):c.163+1G>A	PMS2	Pathogenic/Likely pathogenic	7	6045522	6045522	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618542
Deletion	NM_000535.7(PMS2):c.142del (p.Asp48fs)	PMS2	Pathogenic	7	6045544	6045544	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618543