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
Deletion	NM_004329.3(BMPR1A):c.369del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659585	88659585	GA	G	criteria provided, single submitter	ClinGen:CA288008
Deletion	NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)	SMAD4	Pathogenic/Likely pathogenic	18	48603043	48603067	AGCAGCAGGCGGCTACTGCACAAGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168695
single nucleotide variant	NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)	SMAD4	Pathogenic	18	48603044	48603044	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA163884
single nucleotide variant	NM_004329.3(BMPR1A):c.1474-2A>G	BMPR1A	Likely pathogenic	10	88683349	88683349	A	G	criteria provided, single submitter	ClinGen:CA164082
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>T	SMAD4	Likely pathogenic	18	48593558	48593558	G	T	criteria provided, single submitter	ClinGen:CA164956
Deletion	NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs)	BMPR1A	Pathogenic	10	88677040	88677041	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA166103
Deletion	NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	SMAD4	Pathogenic	18	48593491	48593494	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259232,OMIM:600993.0005
single nucleotide variant	NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr)	BMPR1A	Pathogenic/Likely pathogenic	10	88659588	88659588	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168082
single nucleotide variant	NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)	BMPR1A	Pathogenic	10	88677032	88677032	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168144
single nucleotide variant	NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg)	BMPR1A	Likely pathogenic	10	88679097	88679097	A	G	criteria provided, single submitter	ClinGen:CA168682