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.5507del (p.Gly1836fs)	APC	Pathogenic/Likely pathogenic	5	112176797	112176797	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.1594C>T (p.Gln532Ter)	APC	Pathogenic/Likely pathogenic	5	112163671	112163671	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.1886T>A (p.Leu629Ter)	APC	Pathogenic	5	112170790	112170790	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.1895_1958+28del	APC	Pathogenic	5	112170796	112170887	ATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT	A	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.3374dup (p.Ser1126fs)	APC	Pathogenic	5	112174664	112174665	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.6287C>G (p.Ser2096Ter)	APC	Likely pathogenic	5	112177578	112177578	C	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.281_282del (p.Arg94fs)	APC	Likely pathogenic	5	112102946	112102947	CGT	C	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2057_2058del (p.Asn686fs)	APC	Likely pathogenic	5	112173348	112173349	AAT	A	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.2100dup (p.Met701fs)	APC	Pathogenic	5	112173390	112173391	A	AC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.2589C>A (p.Tyr863Ter)	APC	Pathogenic	5	112173880	112173880	C	A	criteria provided, multiple submitters, no conflicts	-