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.250-1G>C	SMAD4	Likely pathogenic	18	48575055	48575055	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458163
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48593558	48593558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465086
single nucleotide variant	NM_005359.6(SMAD4):c.1309-1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48603007	48603007	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465095
single nucleotide variant	NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter)	SMAD4	Pathogenic	18	48603023	48603023	C	T	criteria provided, single submitter	ClinGen:CA402465134
Duplication	NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs)	SMAD4	Pathogenic	18	48603104	48603105	A	ATCCC	criteria provided, single submitter	ClinGen:CA658799052
Deletion	NM_005359.6(SMAD4):c.1409del (p.Pro470fs)	SMAD4	Pathogenic	18	48603106	48603106	TC	T	criteria provided, single submitter	ClinGen:CA658799053
single nucleotide variant	NM_005359.6(SMAD4):c.454+2T>C	SMAD4	Likely pathogenic	18	48575696	48575696	T	C	criteria provided, single submitter	ClinGen:CA402459644
Deletion	NM_005359.6(SMAD4):c.955+1del	SMAD4	Likely pathogenic	18	48586286	48586286	TG	T	criteria provided, single submitter	ClinGen:CA658799061
single nucleotide variant	NM_005359.6(SMAD4):c.1308+2T>C	SMAD4	Pathogenic	18	48593559	48593559	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)	SMAD4	Likely pathogenic	18	48604701	48604701	G	A	criteria provided, single submitter	-