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.3203C>G (p.Ser1068Ter)	APC	Pathogenic	5	112174494	112174494	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16028361
single nucleotide variant	NM_000038.6(APC):c.734C>A (p.Ser245Ter)	APC	Pathogenic	5	112136980	112136980	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022936
single nucleotide variant	NM_000038.6(APC):c.1626+1G>A	APC	Pathogenic/Likely pathogenic	5	112163704	112163704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360620035
Deletion	NM_000038.6(APC):c.2343del (p.Lys782fs)	APC	Pathogenic	5	112173632	112173632	TC	T	criteria provided, single submitter	ClinGen:CA445963379
Deletion	NM_000038.6(APC):c.2825del (p.Asn942fs)	APC	Pathogenic	5	112174113	112174113	GA	G	criteria provided, single submitter	ClinGen:CA658683399
Deletion	NM_000038.6(APC):c.3264del (p.Lys1088fs)	APC	Pathogenic	5	112174555	112174555	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683403
Deletion	NM_000038.6(APC):c.3527del (p.Pro1176fs)	APC	Pathogenic	5	112174817	112174817	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683409
single nucleotide variant	NM_000038.6(APC):c.3577C>T (p.Gln1193Ter)	APC	Pathogenic	5	112174868	112174868	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029191
Deletion	NM_000038.6(APC):c.3578del (p.Gln1193fs)	APC	Pathogenic	5	112174869	112174869	CA	C	criteria provided, single submitter	ClinGen:CA658683411
single nucleotide variant	NM_000038.6(APC):c.3827C>G (p.Ser1276Ter)	APC	Pathogenic	5	112175118	112175118	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029730