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.531+5G>C	APC	Pathogenic	5	112111439	112111439	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602909
Duplication	NM_000038.6(APC):c.800dup (p.Glu268fs)	APC	Likely pathogenic	5	112137043	112137044	T	TG	criteria provided, single submitter	ClinGen:CA10602944
Duplication	NM_000038.6(APC):c.2395dup (p.Tyr799fs)	APC	Pathogenic	5	112173684	112173685	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602947
Deletion	NM_000038.6(APC):c.2483del (p.Thr828fs)	APC	Pathogenic	5	112173774	112173774	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604463
single nucleotide variant	NM_001048174.2(MUTYH):c.1393-1G>A	MUTYH	Likely pathogenic	1	45796230	45796230	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040736
Deletion	NM_001048174.2(MUTYH):c.994del (p.Arg332fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797441	45797441	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040737
Deletion	NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)	MUTYH	Pathogenic/Likely pathogenic	1	45798476	45798485	TAGCCCAGGCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040738
single nucleotide variant	NM_000038.6(APC):c.933+2T>C	APC	Pathogenic/Likely pathogenic	5	112151292	112151292	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042089
single nucleotide variant	NM_000038.6(APC):c.1548+2T>C	APC	Pathogenic/Likely pathogenic	5	112162946	112162946	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042092
Deletion	NM_000038.6(APC):c.3013_3019del (p.Ala1005fs)	APC	Likely pathogenic	5	112174302	112174308	CTAGCCCA	C	criteria provided, single submitter	ClinGen:CA16042093