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.1141del (p.Ala381fs)	APC	Pathogenic	5	112154868	112154868	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655912
Deletion	NM_000038.6(APC):c.1431del (p.Glu477fs)	APC	Pathogenic	5	112162826	112162826	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655935
single nucleotide variant	NM_000038.6(APC):c.1957A>C (p.Arg653=)	APC	Pathogenic	5	112170861	112170861	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA445758951
single nucleotide variant	NM_000038.6(APC):c.7512G>A (p.Trp2504Ter)	APC	Pathogenic	5	112178803	112178803	G	A	criteria provided, single submitter	ClinGen:CA16037663
Duplication	NM_000038.6(APC):c.7692dup (p.Arg2565fs)	APC	Pathogenic/Likely pathogenic	5	112178981	112178982	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657463
Deletion	NM_000038.6(APC):c.7744del (p.Glu2582fs)	APC	Pathogenic	5	112179035	112179035	TG	T	criteria provided, single submitter	ClinGen:CA658657464
Deletion	NM_000038.6(APC):c.7932_7935del (p.Tyr2645fs)	APC	Pathogenic	5	112179221	112179224	AATTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657465
Deletion	NM_000038.6(APC):c.4770del (p.Ala1591fs)	APC	Pathogenic	5	112176059	112176059	TA	T	criteria provided, single submitter	ClinGen:CA658655952
Duplication	NM_000038.6(APC):c.4950_4951dup (p.Phe1651fs)	APC	Pathogenic	5	112176240	112176241	A	ACT	criteria provided, single submitter	ClinGen:CA658655956
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