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.4501del (p.Ser1501fs)	APC	Pathogenic	5	112175789	112175789	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.4516del (p.Ser1505_Leu1506insTer)	APC	Pathogenic	5	112175806	112175806	GC	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4583_4587del (p.Val1528fs)	APC	Pathogenic	5	112175871	112175875	CCAGTT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.4848_4849dup (p.Leu1617fs)	APC	Pathogenic	5	112176138	112176139	A	AAC	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4891_4894del (p.Ser1631fs)	APC	Pathogenic	5	112176179	112176182	TGTTA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.5691del (p.His1897fs)	APC	Pathogenic	5	112176982	112176982	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.5777_5778del (p.Ile1926fs)	APC	Pathogenic	5	112177067	112177068	CAT	C	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.6091del (p.Ser2031fs)	APC	Pathogenic	5	112177382	112177382	TA	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.6201del (p.Asn2067fs)	APC	Pathogenic	5	112177492	112177492	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.6395C>G (p.Ser2132Ter)	APC	Pathogenic	5	112177686	112177686	C	G	criteria provided, single submitter	-