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.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
Deletion	NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)	BMPR1A	Pathogenic	10	88635817	88635820	ATTTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797453,OMIM:601299.0001
Duplication	NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs)	BMPR1A	Pathogenic	10	88676945	88676946	C	CG	criteria provided, single submitter	ClinGen:CA658797466
single nucleotide variant	NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter)	BMPR1A	Pathogenic	10	88678970	88678970	C	T	criteria provided, single submitter	ClinGen:CA377460001
Deletion	NM_004329.3(BMPR1A):c.366_384del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659579	88659597	ACAATAGAATGTTGTCGGAC	A	criteria provided, single submitter	ClinGen:CA658797455
Deletion	NM_004329.3(BMPR1A):c.419del (p.Pro140fs)	BMPR1A	Pathogenic	10	88659632	88659632	GC	G	criteria provided, single submitter	ClinGen:CA658797456
Duplication	NM_004329.3(BMPR1A):c.864dup (p.Leu289fs)	BMPR1A	Pathogenic	10	88677078	88677079	T	TA	criteria provided, single submitter	ClinGen:CA658797467
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