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.420del (p.Val141fs)	BMPR1A	Pathogenic	10	88659637	88659637	CT	C	criteria provided, single submitter	ClinGen:CA190154
single nucleotide variant	NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)	BMPR1A	Pathogenic	10	88679141	88679141	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA186249
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
Duplication	NM_005359.6(SMAD4):c.153dup (p.Asp52fs)	SMAD4	Pathogenic	18	48573563	48573564	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA197041
Duplication	NM_005359.6(SMAD4):c.898_904+1dup	SMAD4	Pathogenic	18	48584819	48584820	A	ACATTACTG	criteria provided, single submitter	ClinGen:CA191750
Duplication	NM_005359.6(SMAD4):c.1242dup (p.Asp415fs)	SMAD4	Pathogenic	18	48593490	48593491	T	TA	criteria provided, single submitter	ClinGen:CA187376
Deletion	NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs)	BMPR1A	Pathogenic	10	88651896	88651900	ATTGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA334485
Duplication	NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs)	SMAD4	Pathogenic	18	48603052	48603053	G	GGCTACTGCACAAGCTGCAGCAGCTGCCC	criteria provided, single submitter	ClinGen:CA334241
single nucleotide variant	NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter)	SMAD4	Pathogenic	18	48593391	48593391	T	A	criteria provided, single submitter	ClinGen:CA339552
Deletion	NM_005359.6(SMAD4):c.1515del (p.Phe505fs)	SMAD4	Pathogenic/Likely pathogenic	18	48604690	48604690	GT	G	criteria provided, single submitter	ClinGen:CA349749