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.6281del (p.Pro2094fs)	APC	Pathogenic/Likely pathogenic	5	112177569	112177569	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578425
single nucleotide variant	NM_000038.6(APC):c.6344T>G (p.Leu2115Ter)	APC	Pathogenic	5	112177635	112177635	T	G	criteria provided, single submitter	ClinGen:CA10578427
single nucleotide variant	NM_000038.6(APC):c.7715C>G (p.Ser2572Ter)	APC	Pathogenic/Likely pathogenic	5	112179006	112179006	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578448
Deletion	NM_001048174.2(MUTYH):c.1468del (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795076	45795076	CT	C	criteria provided, single submitter	ClinGen:CA10581799
single nucleotide variant	NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45796895	45796895	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581802
single nucleotide variant	NM_001048174.2(MUTYH):c.606+1G>T	MUTYH	Likely pathogenic	1	45798245	45798245	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581808
Duplication	NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)	MUTYH	Pathogenic	1	45799099	45799100	G	GT	criteria provided, single submitter	ClinGen:CA10581812
Deletion	NM_000038.5(APC):c.-85_*2113del	APC	Pathogenic	5	112073556	112181936	na	na	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.249del (p.Gly84fs)	APC	Pathogenic	5	112102914	112102914	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582274
single nucleotide variant	NM_000038.6(APC):c.448A>T (p.Lys150Ter)	APC	Pathogenic	5	112111351	112111351	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582275