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.7271C>G (p.Ser2424Ter)	APC	Pathogenic	5	112178562	112178562	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16037165
Deletion	NM_000038.6(APC):c.7270_7273del (p.Ser2424fs)	APC	Pathogenic	5	112178559	112178562	AAATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683427
single nucleotide variant	NM_000038.6(APC):c.7069A>T (p.Lys2357Ter)	APC	Pathogenic	5	112178360	112178360	A	T	criteria provided, single submitter	-
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	-