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
Duplication	NM_000038.6(APC):c.3877dup (p.Thr1293fs)	APC	Pathogenic	5	112175167	112175168	G	GA	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.3935del (p.Gly1312fs)	APC	Pathogenic	5	112175225	112175225	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.4006A>T (p.Arg1336Ter)	APC	Pathogenic	5	112175297	112175297	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.4025T>G (p.Leu1342Ter)	APC	Pathogenic	5	112175316	112175316	T	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4240del (p.Met1413_Val1414insTer)	APC	Pathogenic	5	112175530	112175530	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.4260del (p.Ser1421fs)	APC	Pathogenic	5	112175548	112175548	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.4306del (p.Ser1436fs)	APC	Pathogenic	5	112175596	112175596	GA	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4326del (p.Pro1443fs)	APC	Pathogenic	5	112175617	112175617	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.4339del (p.Gln1447fs)	APC	Pathogenic	5	112175630	112175630	TC	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4397del (p.Gly1466fs)	APC	Pathogenic	5	112175687	112175687	TG	T	criteria provided, multiple submitters, no conflicts	-