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.3162del (p.His1054fs)	APC	Pathogenic	5	112174453	112174453	AC	A	criteria provided, single submitter	ClinGen:CA008092
Duplication	NM_001127510.3(APC):c.1917dup (p.Arg640fs)	APC	Likely pathogenic	5	112170820	112170821	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA006371
Deletion	NG_008481.4:g.(?_150033)_(158719_?)del	APC	Pathogenic	5	112173250	112181936	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.622C>T (p.Gln208Ter)	APC	Pathogenic	5	112116577	112116577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011031,OMIM:611731.0047
single nucleotide variant	NM_000038.6(APC):c.423-1G>A	APC	Pathogenic	5	112111325	112111325	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009189,OMIM:611731.0043
single nucleotide variant	NM_000038.6(APC):c.2093T>A (p.Leu698Ter)	APC	Pathogenic	5	112173384	112173384	T	A	criteria provided, single submitter	ClinGen:CA007187,OMIM:611731.0039
Deletion	NM_000038.6(APC):c.937_938del (p.Glu313fs)	APC	Pathogenic	5	112154666	112154667	GGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015990,OMIM:611731.0038
Deletion	NM_000038.6(APC):c.1192_1193del (p.Lys398fs)	APC	Pathogenic	5	112154921	112154922	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004076,OMIM:611731.0035
Deletion	NM_000038.6(APC):c.1311_1312+1del	APC	Pathogenic	5	112155040	112155042	CAAG	C	reviewed by expert panel	OMIM:611731.0033,ClinGen:CA251620
single nucleotide variant	NM_000038.6(APC):c.1458T>G (p.Tyr486Ter)	APC	Pathogenic	5	112162854	112162854	T	G	criteria provided, single submitter	OMIM:611731.0032