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.706C>T (p.Gln236Ter)	APC	Pathogenic	5	112128203	112128203	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022877
single nucleotide variant	NM_000038.6(APC):c.835-7T>G	APC	Likely pathogenic	5	112151185	112151185	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372415
Deletion	NM_000038.6(APC):c.1048_1141del (p.Ser350fs)	APC	Pathogenic	5	112154776	112154869	AGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372772
Deletion	NM_000038.6(APC):c.1213del (p.Arg405fs)	APC	Pathogenic	5	112154941	112154941	TC	T	criteria provided, single submitter	ClinGen:CA645372771
Duplication	NM_000038.6(APC):c.1343dup (p.Ala449fs)	APC	Pathogenic	5	112157621	112157622	T	TC	criteria provided, single submitter	ClinGen:CA645372417
single nucleotide variant	NM_000038.6(APC):c.1370C>A (p.Ser457Ter)	APC	Pathogenic	5	112157650	112157650	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16024303
single nucleotide variant	NM_000038.6(APC):c.1409-1G>A	APC	Pathogenic/Likely pathogenic	5	112162804	112162804	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360619890
Deletion	NM_000038.6(APC):c.1605_1606del (p.Glu536fs)	APC	Pathogenic	5	112163682	112163683	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372419
single nucleotide variant	NM_000038.6(APC):c.1744-4C>G	APC	Pathogenic	5	112170644	112170644	C	G	criteria provided, single submitter	ClinGen:CA645372420
single nucleotide variant	NM_000038.6(APC):c.1779G>A (p.Trp593Ter)	APC	Pathogenic	5	112170683	112170683	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025206