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	NC_000005.10:g.(?_112818966)_(112821991_?)del	APC	Pathogenic	5	112154663	112157688	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.471G>A (p.Trp157Ter)	APC	Pathogenic	5	112111374	112111374	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022351
Indel	NM_000038.6(APC):c.4357_4363delinsAAT (p.Pro1453fs)	APC	Pathogenic	5	112175648	112175654	CCTAAAA	AAT	criteria provided, single submitter	ClinGen:CA16611649
single nucleotide variant	NM_000038.6(APC):c.1370C>G (p.Ser457Ter)	APC	Pathogenic	5	112157650	112157650	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16024304
single nucleotide variant	NM_000038.6(APC):c.1402G>T (p.Glu468Ter)	APC	Pathogenic	5	112157682	112157682	G	T	criteria provided, single submitter	ClinGen:CA16024380
Deletion	NM_000038.6(APC):c.1744-11_1744-1del	APC	Likely pathogenic	5	112170636	112170646	TGTTTCTTACTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611652
single nucleotide variant	NM_000038.6(APC):c.1958G>T (p.Arg653Met)	APC	Pathogenic/Likely pathogenic	5	112170862	112170862	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025598
single nucleotide variant	NM_000038.6(APC):c.2097G>A (p.Trp699Ter)	APC	Pathogenic	5	112173388	112173388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025910
single nucleotide variant	NM_000038.6(APC):c.2635C>T (p.Gln879Ter)	APC	Pathogenic	5	112173926	112173926	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16027094
Deletion	NM_000038.6(APC):c.3186_3187del (p.Gln1062_Ser1063insTer)	APC	Pathogenic	5	112174476	112174477	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611662