家族性大腸腺腫症

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_000038.6(APC):c.4735_4736del (p.Ile1579fs)	APC	Pathogenic	5	112176025	112176026	GTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372798
Deletion	NM_000038.6(APC):c.5978del (p.Pro1993fs)	APC	Pathogenic	5	112177265	112177265	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372801
Deletion	NM_000038.6(APC):c.7960del (p.Thr2654fs)	APC	Pathogenic	5	112179248	112179248	TA	T	criteria provided, single submitter	ClinGen:CA562217625
Deletion	NM_000038.5(APC):c.-85-?_1048+?del	APC	Pathogenic	5	112073556	112154777	na	na	criteria provided, single submitter	-
Deletion	NM_000038.5(APC):c.1-?_1408+?del	APC	Pathogenic	5	112090588	112157688	na	na	criteria provided, single submitter	-
Deletion	NM_000038.5(APC):c.1-?_1958+?del	APC	Pathogenic	5	112090588	112170862	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_000038.5(APC):c.1313-?_8532+?del	APC	Pathogenic	5	112157593	112179823	na	na	criteria provided, single submitter	-
Deletion	NM_000038.5(APC):c.2155-?_3960+?del	APC	Pathogenic	5	112173446	112175251	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	-