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
Indel	NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs)	APC	Pathogenic/Likely pathogenic	5	112170796	112170808	TTATTGAAAGTGG	AAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279732
single nucleotide variant	NM_000038.6(APC):c.1959-1G>A	APC	Pathogenic/Likely pathogenic	5	112173249	112173249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279751
Indel	NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer)	APC	Pathogenic	5	112173288	112173290	TAC	A	criteria provided, single submitter	ClinGen:CA279774
Deletion	NM_000038.6(APC):c.2325del (p.Asn775fs)	APC	Pathogenic	5	112173616	112173616	AT	A	criteria provided, single submitter	ClinGen:CA279776
Duplication	NM_000038.6(APC):c.2624dup (p.Arg876fs)	APC	Pathogenic	5	112173912	112173913	C	CA	criteria provided, single submitter	ClinGen:CA279793
Deletion	NM_000038.6(APC):c.2759del (p.Asn920fs)	APC	Pathogenic	5	112174048	112174048	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279738
Duplication	NM_000038.6(APC):c.2804dup (p.Tyr935Ter)	APC	Pathogenic/Likely pathogenic	5	112174094	112174095	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA279806
Duplication	NM_000038.6(APC):c.2806_2813dup (p.Lys939fs)	APC	Pathogenic	5	112174094	112174095	T	TACAATTTC	criteria provided, single submitter	ClinGen:CA279797
Duplication	NM_000038.6(APC):c.3079dup (p.Tyr1027fs)	APC	Pathogenic	5	112174368	112174369	A	AT	criteria provided, single submitter	ClinGen:CA279808
Deletion	NM_000038.6(APC):c.3125del (p.Ser1042fs)	APC	Pathogenic	5	112174416	112174416	AG	A	criteria provided, single submitter	ClinGen:CA279702