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.7946_7955del (p.Pro2649fs)	APC	Pathogenic	5	112179236	112179245	ACCTGCTGTTT	A	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.7931_7937del (p.Ile2644fs)	APC	Pathogenic	5	112179221	112179227	AATTTATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588389
Deletion	NM_000038.6(APC):c.7932_7935del (p.Tyr2645fs)	APC	Pathogenic	5	112179221	112179224	AATTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657465
Deletion	NM_000038.6(APC):c.7930_7934del (p.Ile2644fs)	APC	Pathogenic	5	112179219	112179223	CTAATT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.7891del (p.Ser2631fs)	APC	Likely pathogenic	5	112179180	112179180	GT	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.7803_7807del (p.Ser2601fs)	APC	Pathogenic/Likely pathogenic	5	112179090	112179094	CAAAGT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.7744del (p.Glu2582fs)	APC	Pathogenic	5	112179035	112179035	TG	T	criteria provided, single submitter	ClinGen:CA658657464
single nucleotide variant	NM_000038.6(APC):c.7715C>G (p.Ser2572Ter)	APC	Pathogenic/Likely pathogenic	5	112179006	112179006	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578448
single nucleotide variant	NM_000038.6(APC):c.7709C>G (p.Ser2570Ter)	APC	Pathogenic	5	112179000	112179000	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.7692dup (p.Arg2565fs)	APC	Pathogenic/Likely pathogenic	5	112178981	112178982	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657463