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.3682C>T (p.Gln1228Ter)	APC	Pathogenic	5	112174973	112174973	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029415
single nucleotide variant	NM_000038.6(APC):c.3766C>T (p.Gln1256Ter)	APC	Pathogenic	5	112175057	112175057	C	T	criteria provided, single submitter	ClinGen:CA16029592
Deletion	NM_000038.6(APC):c.3786_3787del (p.Tyr1262_Cys1263delinsTer)	APC	Pathogenic	5	112175077	112175078	ATT	A	criteria provided, single submitter	ClinGen:CA645372791
Duplication	NM_000038.6(APC):c.3901dup (p.Thr1301fs)	APC	Pathogenic/Likely pathogenic	5	112175191	112175192	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA445963830
Deletion	NM_000038.6(APC):c.4353del (p.Val1452fs)	APC	Pathogenic	5	112175643	112175643	GA	G	criteria provided, single submitter	ClinGen:CA645372794
Deletion	NM_000038.6(APC):c.4384_4385del (p.Lys1462fs)	APC	Pathogenic	5	112175673	112175674	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372795
single nucleotide variant	NM_000038.6(APC):c.4405C>T (p.Gln1469Ter)	APC	Pathogenic	5	112175696	112175696	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030978
single nucleotide variant	NM_000038.6(APC):c.4660G>T (p.Glu1554Ter)	APC	Pathogenic	5	112175951	112175951	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16031547
Deletion	NM_000038.6(APC):c.4671del (p.Ile1557fs)	APC	Pathogenic	5	112175961	112175961	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372797
single nucleotide variant	NM_000038.6(APC):c.4726G>T (p.Glu1576Ter)	APC	Pathogenic	5	112176017	112176017	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16031696