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
single nucleotide variant	NM_000038.6(APC):c.3980C>G (p.Ser1327Ter)	APC	Pathogenic	5	112175271	112175271	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030059
single nucleotide variant	NM_000038.6(APC):c.6065C>G (p.Ser2022Ter)	APC	Pathogenic	5	112177356	112177356	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16034606
Deletion	NM_000038.6(APC):c.543_546del (p.Thr182fs)	APC	Pathogenic	5	112116495	112116498	TACAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645546029
Duplication	NM_000038.6(APC):c.712dup (p.Gln238fs)	APC	Pathogenic	5	112128206	112128207	T	TC	criteria provided, single submitter	ClinGen:CA658657479
single nucleotide variant	NM_000038.6(APC):c.2621C>G (p.Ser874Ter)	APC	Pathogenic	5	112173912	112173912	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16027067
Duplication	NM_000038.6(APC):c.4009_4010dup (p.Gln1338fs)	APC	Pathogenic/Likely pathogenic	5	112175299	112175300	A	ACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655930
single nucleotide variant	NM_000038.6(APC):c.4796C>G (p.Ser1599Ter)	APC	Pathogenic	5	112176087	112176087	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16031843
Duplication	NM_000038.6(APC):c.4906dup (p.Asp1636fs)	APC	Pathogenic	5	112176192	112176193	C	CG	criteria provided, single submitter	ClinGen:CA658655955
single nucleotide variant	NM_000038.6(APC):c.5384C>G (p.Ser1795Ter)	APC	Pathogenic	5	112176675	112176675	C	G	criteria provided, single submitter	ClinGen:CA16033098
Deletion	NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs)	MUTYH	Pathogenic/Likely pathogenic	1	45796927	45796928	GGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656914