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.2991_2996del (p.Tyr997_Gln999delinsTer)	APC	Pathogenic	5	112174281	112174286	TATGGTC	T	criteria provided, single submitter	ClinGen:CA645369365
Deletion	NM_000038.6(APC):c.3002del (p.Pro1001fs)	APC	Pathogenic	5	112174291	112174291	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369366
Duplication	NM_000038.6(APC):c.3183dup (p.Gln1062fs)	APC	Pathogenic	5	112174470	112174471	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369371
Deletion	NM_000038.6(APC):c.3184_3187del (p.Gln1062fs)	APC	Pathogenic	5	112174472	112174475	AAAAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369372
Duplication	NM_000038.6(APC):c.3300dup (p.Pro1101fs)	APC	Pathogenic	5	112174590	112174591	C	CT	criteria provided, single submitter	ClinGen:CA645369363
Deletion	NM_000038.6(APC):c.3347del (p.Gly1116fs)	APC	Pathogenic	5	112174636	112174636	TG	T	criteria provided, single submitter	ClinGen:CA645369364
Deletion	NM_000038.6(APC):c.3386del (p.Leu1129fs)	APC	Pathogenic	5	112174675	112174675	CT	C	criteria provided, single submitter	ClinGen:CA645369369
Deletion	NM_000038.6(APC):c.3463_3467del (p.Glu1155fs)	APC	Pathogenic	5	112174753	112174757	AAGAAG	A	criteria provided, single submitter	ClinGen:CA645369370
single nucleotide variant	NM_000038.6(APC):c.3571C>T (p.Gln1191Ter)	APC	Pathogenic	5	112174862	112174862	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029176
single nucleotide variant	NM_000038.6(APC):c.3665C>A (p.Ser1222Ter)	APC	Pathogenic	5	112174956	112174956	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029377