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
single nucleotide variant	NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter)	SMAD4	Pathogenic	18	48575205	48575205	C	A	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.443del (p.Leu148fs)	SMAD4	Pathogenic	18	48575683	48575683	CT	C	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.1067dup (p.Ser357fs)	SMAD4	Pathogenic	18	48591901	48591902	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)	SMAD4	Likely pathogenic	18	48593397	48593397	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)	SMAD4	Pathogenic	18	48593443	48593443	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter)	SMAD4	Pathogenic	18	48603062	48603062	C	T	criteria provided, single submitter	-