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
Deletion	NM_000038.6(APC):c.453del (p.Glu152fs)	APC	Pathogenic	5	112111355	112111355	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279814
Deletion	NM_000038.5(APC):c.792del (p.Gly265Glufs)	APC	Pathogenic	5	112137037	112137037	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA337382
single nucleotide variant	NM_000038.6(APC):c.1072C>T (p.Gln358Ter)	APC	Pathogenic	5	112154801	112154801	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA337910
Duplication	NM_000038.6(APC):c.1886dup (p.Leu629fs)	APC	Pathogenic	5	112170787	112170788	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA336012
single nucleotide variant	NM_000038.6(APC):c.2626C>T (p.Arg876Ter)	APC	Pathogenic	5	112173917	112173917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338207
Deletion	NM_000038.6(APC):c.3921_3924del (p.Ile1307fs)	APC	Pathogenic	5	112175212	112175215	TAAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA337468
single nucleotide variant	NM_000038.6(APC):c.221-1G>A	APC	Pathogenic/Likely pathogenic	5	112102885	112102885	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279668
single nucleotide variant	NM_000038.6(APC):c.288T>G (p.Tyr96Ter)	APC	Pathogenic	5	112102953	112102953	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA248534
single nucleotide variant	NM_000038.6(APC):c.301G>T (p.Gly101Ter)	APC	Pathogenic	5	112102966	112102966	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279710
Deletion	NM_000038.6(APC):c.450_453del (p.Glu151fs)	APC	Pathogenic	5	112111351	112111354	CAAAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279775