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_005359.6(SMAD4):c.728_735del (p.Gly243fs)	SMAD4	Pathogenic	18	48584551	48584558	ATCAGGGCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616070
single nucleotide variant	NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)	SMAD4	Pathogenic	18	48591933	48591933	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616081
single nucleotide variant	NM_005359.6(SMAD4):c.1447+2T>C	SMAD4	Likely pathogenic	18	48603148	48603148	T	C	criteria provided, single submitter	ClinGen:CA16616086
Duplication	NM_004329.3(BMPR1A):c.143dup (p.Thr49fs)	BMPR1A	Likely pathogenic	10	88649893	88649894	G	GT	criteria provided, single submitter	ClinGen:CA16618997
Deletion	NM_004329.3(BMPR1A):c.360del (p.Thr121fs)	BMPR1A	Pathogenic	10	88659576	88659576	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619001
Deletion	NM_001406583.1(BMPR1A):c.676-6del	BMPR1A	Likely pathogenic	10	88676890	88676890	AG	A	criteria provided, single submitter	ClinGen:CA16619003
single nucleotide variant	NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)	BMPR1A	Pathogenic	10	88676945	88676945	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619004
Indel	NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs)	BMPR1A	Likely pathogenic	10	88681353	88681354	GA	TTTC	criteria provided, single submitter	ClinGen:CA16619011
Deletion	NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG	SMAD4	Pathogenic	18	48584494	48584516	AGGTCAGCCTGCCAGTATACTGGG	A	criteria provided, single submitter	ClinGen:CA16620702
single nucleotide variant	NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter)	SMAD4	Pathogenic	18	48584825	48584825	C	G	criteria provided, single submitter	ClinGen:CA16620705