若年性ポリポーシス症候群

腫瘍性疾患

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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_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)	SMAD4	Pathogenic	18	48584558	48584559	G	GCCGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA259188
Deletion	NM_005359.6(SMAD4):c.728_735del (p.Gly243fs)	SMAD4	Pathogenic	18	48584551	48584558	ATCAGGGCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616070
Duplication	NM_005359.6(SMAD4):c.692dup (p.Ser232fs)	SMAD4	Pathogenic	18	48584513	48584514	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA259187,OMIM:600993.0007
Deletion	NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG	SMAD4	Pathogenic	18	48584494	48584516	AGGTCAGCCTGCCAGTATACTGGG	A	criteria provided, single submitter	ClinGen:CA16620702
single nucleotide variant	NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)	SMAD4	Pathogenic	18	48581281	48581281	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter)	SMAD4	Pathogenic	18	48581234	48581234	C	T	criteria provided, single submitter	-
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_005359.6(SMAD4):c.461C>G (p.Ser154Ter)	SMAD4	Pathogenic	18	48581157	48581157	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402460591
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.443del (p.Leu148fs)	SMAD4	Pathogenic	18	48575683	48575683	CT	C	criteria provided, single submitter	-