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
single nucleotide variant	NM_000535.7(PMS2):c.354-1G>A	PMS2	Pathogenic/Likely pathogenic	7	6042268	6042268	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011931
single nucleotide variant	NM_000535.7(PMS2):c.354-2A>G	PMS2	Pathogenic/Likely pathogenic	7	6042269	6042269	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011940
single nucleotide variant	NM_000535.7(PMS2):c.251-2A>T	PMS2	Pathogenic/Likely pathogenic	7	6043425	6043425	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011631
single nucleotide variant	NM_000535.7(PMS2):c.164-1G>C	PMS2	Pathogenic/Likely pathogenic	7	6043690	6043690	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009964
Deletion	NM_002354.2(EPCAM):c.859-?_*415del	EPCAM	Pathogenic	2	47612305	47614167	na	na	criteria provided, single submitter	-
Duplication	NM_000251.3(MSH2):c.264dup (p.Val89fs)	MSH2	Pathogenic	2	47635588	47635589	C	CT	criteria provided, single submitter	ClinGen:CA020793
single nucleotide variant	NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)	MSH2	Likely pathogenic	2	47637357	47637357	G	A	reviewed by expert panel	ClinGen:CA021218
Insertion	NM_000251.3(MSH2):c.782_783insA (p.Met261fs)	MSH2	Pathogenic	2	47639689	47639690	T	TA	criteria provided, single submitter	ClinGen:CA022242
single nucleotide variant	NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter)	MSH2	Pathogenic	2	47690225	47690225	T	A	criteria provided, single submitter	ClinGen:CA018278
Deletion	NM_000251.3(MSH2):c.2283del (p.Gly761_Leu762insTer)	MSH2	Pathogenic	2	47705481	47705481	TG	T	criteria provided, single submitter	ClinGen:CA020400