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_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	BMPR1A	Pathogenic/Likely pathogenic	10	88635776	88635776	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377774739
Duplication	NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs)	SMAD4	Pathogenic/Likely pathogenic	18	48603038	48603039	A	ATGCAGCAGCAGGCGGCTACTGCACAAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580987
single nucleotide variant	NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48575103	48575103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580973
single nucleotide variant	NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)	BMPR1A	Pathogenic/Likely pathogenic	10	88635778	88635778	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353511
Deletion	NM_005359.6(SMAD4):c.1515del (p.Phe505fs)	SMAD4	Pathogenic/Likely pathogenic	18	48604690	48604690	GT	G	criteria provided, single submitter	ClinGen:CA349749
single nucleotide variant	NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88683357	88683357	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA186232
single nucleotide variant	NM_004329.3(BMPR1A):c.1A>G (p.Met1Val)	BMPR1A	Pathogenic/Likely pathogenic	10	88635776	88635776	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195612
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
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.1486C>T (p.Arg496Cys)	SMAD4	Pathogenic/Likely pathogenic	18	48604664	48604664	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA145285