リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_002354.3(EPCAM):c.499dup (p.Gln167fs)	EPCAM	Pathogenic	2	47604159	47604160	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA122702,OMIM:185535.0004
single nucleotide variant	NM_002354.3(EPCAM):c.492-2A>G	EPCAM	Pathogenic	2	47604151	47604151	A	G	criteria provided, single submitter	ClinGen:CA171017,OMIM:185535.0008
Deletion	NM_002354.2(EPCAM):c.859-?_*415del	EPCAM	Pathogenic	2	47612305	47614167	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002354.3(EPCAM):c.859-1G>A	EPCAM	Likely pathogenic	2	47612304	47612304	G	A	criteria provided, single submitter	ClinGen:CA338654
single nucleotide variant	NM_002354.3(EPCAM):c.491+1G>T	EPCAM	Pathogenic	2	47602439	47602439	G	T	criteria provided, single submitter	ClinGen:CA349323
single nucleotide variant	NM_002354.3(EPCAM):c.133C>T (p.Gln45Ter)	EPCAM	Pathogenic	2	47600658	47600658	C	T	criteria provided, single submitter	ClinGen:CA10581976
single nucleotide variant	NM_002354.3(EPCAM):c.429G>A (p.Trp143Ter)	EPCAM	Pathogenic	2	47602376	47602376	G	A	criteria provided, single submitter	ClinGen:CA10581979
single nucleotide variant	NM_002354.3(EPCAM):c.523C>T (p.Gln175Ter)	EPCAM	Pathogenic	2	47604184	47604184	C	T	criteria provided, single submitter	ClinGen:CA10581981
single nucleotide variant	NM_002354.3(EPCAM):c.904-2A>G	EPCAM	Likely pathogenic	2	47613709	47613709	A	G	criteria provided, single submitter	ClinGen:CA10581985
Deletion	NC_000002.12:g.(?_47377014)_(47377077_?)del	EPCAM	Pathogenic	2	47604153	47604216	na	na	criteria provided, single submitter	-