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
Insertion	NM_000038.6(APC):c.2692_2693insT (p.His898fs)	APC	Pathogenic	5	112173983	112173984	C	CT	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.3317del (p.Gly1106fs)	APC	Pathogenic/Likely pathogenic	5	112174605	112174605	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.3730C>T (p.Gln1244Ter)	APC	Pathogenic	5	112175021	112175021	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.7709C>G (p.Ser2570Ter)	APC	Pathogenic	5	112179000	112179000	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.3854_3855dup (p.Glu1286fs)	APC	Likely pathogenic	5	112175144	112175145	G	GAT	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4054_4063del (p.Val1352fs)	APC	Likely pathogenic	5	112175344	112175353	CTGTTGAATTT	C	criteria provided, single submitter	-
Indel	NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs)	APC	Likely pathogenic	5	112176443	112176444	GC	A	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.1958+1_1958+2dup	APC	Pathogenic/Likely pathogenic	5	112170862	112170863	G	GGT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)	MUTYH	Pathogenic	1	45797151	45797151	G	A	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer)	MUTYH	Pathogenic	1	45797197	45797197	CG	C	criteria provided, single submitter	-