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.6976C>T (p.Arg2326Ter)	APC	Pathogenic/Likely pathogenic	5	112178267	112178267	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16036541
single nucleotide variant	NM_000038.6(APC):c.6905C>G (p.Ser2302Ter)	APC	Pathogenic	5	112178196	112178196	C	G	criteria provided, single submitter	ClinGen:CA046422
single nucleotide variant	NM_000038.6(APC):c.6871C>T (p.Gln2291Ter)	APC	Pathogenic	5	112178162	112178162	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.6862C>T (p.Gln2288Ter)	APC	Pathogenic	5	112178153	112178153	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)	APC	Pathogenic	5	112178000	112178000	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012440
single nucleotide variant	NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)	APC	Pathogenic/Likely pathogenic	5	112177901	112177901	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582333
Deletion	NM_000038.6(APC):c.6596_6605del (p.Ile2199fs)	APC	Pathogenic	5	112177886	112177895	GATTACTGGAA	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.6542_6545del (p.Ile2181fs)	APC	Likely pathogenic	5	112177830	112177833	AAGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509164
single nucleotide variant	NM_000038.6(APC):c.6496C>T (p.Arg2166Ter)	APC	Pathogenic	5	112177787	112177787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16035547
single nucleotide variant	NM_000038.6(APC):c.6395C>G (p.Ser2132Ter)	APC	Pathogenic	5	112177686	112177686	C	G	criteria provided, single submitter	-