家族性大腸腺腫症

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
Deletion	NC_000005.10:g.(?_112737024)_(112844132_?)del	APC	Pathogenic	5	112072721	112179829	na	na	criteria provided, single submitter	-
Deletion	NM_000038.5(APC):c.1409-?_*(1_?)del	APC	Pathogenic	5	112162805	112179824	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112707312)_(112844126_?)del	APC	Pathogenic	5	112043009	112179823	na	na	criteria provided, single submitter	-
Deletion	NM_000038.5(APC):c.3146-?_8532+?del	APC	Pathogenic	5	112174437	112179823	na	na	criteria provided, single submitter	-
Deletion	NM_000038.5(APC):c.1313-?_8532+?del	APC	Pathogenic	5	112157593	112179823	na	na	criteria provided, single submitter	-
Deletion	NM_000038.5(APC):c.1-?_8532+?del	APC	Pathogenic	5	112090588	112179823	na	na	criteria provided, single submitter	-
Deletion	NM_000038.4(APC):c.(?_1)_(8477_?)del	APC	Pathogenic	5	112090588	112179768	na	na	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.8047del (p.Ile2683fs)	APC	Pathogenic	5	112179338	112179338	GA	G	criteria provided, single submitter	ClinGen:CA645369385
Deletion	NM_000038.6(APC):c.7959_7962del (p.Thr2654fs)	APC	Pathogenic/Likely pathogenic	5	112179249	112179252	AAAAC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.7960del (p.Thr2654fs)	APC	Pathogenic	5	112179248	112179248	TA	T	criteria provided, single submitter	ClinGen:CA562217625