家族性大腸腺腫症

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1957A>G (p.Arg653Gly)	APC	Pathogenic/Likely pathogenic	5	112170861	112170861	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025594
single nucleotide variant	NM_000038.6(APC):c.1958G>A (p.Arg653Lys)	APC	Pathogenic	5	112170862	112170862	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025596
single nucleotide variant	NM_000038.6(APC):c.1958+1G>A	APC	Pathogenic	5	112170863	112170863	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360623916
Deletion	NM_000038.6(APC):c.1968_1969del (p.Asn659fs)	APC	Pathogenic	5	112173259	112173260	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369356
Deletion	NM_000038.6(APC):c.2129del (p.Leu710fs)	APC	Pathogenic	5	112173420	112173420	CT	C	criteria provided, single submitter	ClinGen:CA645369358
Deletion	NM_000038.6(APC):c.2185_2336del (p.Leu729fs)	APC	Pathogenic	5	112173475	112173626	ATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369359
Duplication	NM_000038.6(APC):c.2380dup (p.Ser794fs)	APC	Pathogenic	5	112173668	112173669	C	CA	criteria provided, single submitter	ClinGen:CA645369353
Deletion	NM_000038.6(APC):c.2426del (p.Asn809fs)	APC	Pathogenic	5	112173716	112173716	TA	T	criteria provided, single submitter	ClinGen:CA645369354
Deletion	NM_000038.6(APC):c.2496_2502del (p.Ser833fs)	APC	Pathogenic	5	112173785	112173791	ACCCAGCT	A	criteria provided, single submitter	ClinGen:CA645369361
single nucleotide variant	NM_000038.6(APC):c.2701C>T (p.Gln901Ter)	APC	Pathogenic	5	112173992	112173992	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16027226