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.931C>T (p.Gln311Ter)	SMAD4	Pathogenic	18	48586262	48586262	C	T	criteria provided, single submitter	ClinGen:CA10580984
single nucleotide variant	NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr)	SMAD4	Likely pathogenic	18	48591925	48591925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580985
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
Duplication	NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs)	SMAD4	Pathogenic	18	48604762	48604763	C	CTT	criteria provided, single submitter	ClinGen:CA10580992
Deletion	NM_004329.2(BMPR1A):c.-152-?_*1469del	BMPR1A	Pathogenic	10	88635624	88684945	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.675+1G>C	BMPR1A	Likely pathogenic	10	88672142	88672142	G	C	criteria provided, single submitter	ClinGen:CA10582746
Deletion	NM_004329.3(BMPR1A):c.771del (p.Val258fs)	BMPR1A	Pathogenic	10	88676982	88676982	GA	G	criteria provided, single submitter	ClinGen:CA10582748
single nucleotide variant	NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter)	BMPR1A	Pathogenic	10	88683388	88683388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582751
single nucleotide variant	NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter)	SMAD4	Pathogenic	18	48586237	48586237	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583704
Duplication	NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter)	SMAD4	Pathogenic	18	48593453	48593454	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583707