若年性ポリポーシス症候群

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_005359.6(SMAD4):c.424+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48575231	48575231	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys)	SMAD4	Pathogenic/Likely pathogenic	18	48591976	48591976	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA259219
single nucleotide variant	NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	SMAD4	Pathogenic/Likely pathogenic	18	48591891	48591891	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128090,UniProtKB:Q13485#VAR_019571,UniProtKB/Swiss-Prot:VAR_019571,OMIM:600993.0011
single nucleotide variant	NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48581229	48581229	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259180
single nucleotide variant	NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)	BMPR1A	Pathogenic/Likely pathogenic	10	88659587	88659587	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA194624,UniProtKB:P36894#VAR_015533,OMIM:601299.0006
Deletion	NC_000010.11:g.(?_86876009)_(86923729_?)del	BMPR1A	Pathogenic	10	88635766	88683486	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86838866)_(87965482_?)del	BMPR1A	Pathogenic	10	88598623	89725239	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(86923729_?)del	BMPR1A	Pathogenic	10	88514773	88683486	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86876009)_(86876095_?)del	BMPR1A	Pathogenic	10	88635766	88635852	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(87965482_?)del	BMPR1A	Pathogenic	10	88514773	89725239	na	na	criteria provided, single submitter	-