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.1374C>A (p.Tyr458Ter)	BMPR1A	Pathogenic	10	88683164	88683164	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1401C>A (p.Tyr467Ter)	BMPR1A	Pathogenic	10	88683191	88683191	C	A	criteria provided, single submitter	ClinGen:CA377462910
single nucleotide variant	NM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter)	BMPR1A	Pathogenic	10	88683250	88683250	G	A	criteria provided, single submitter	ClinGen:CA377463185
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_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.1511G>A (p.Trp504Ter)	BMPR1A	Pathogenic	10	88683388	88683388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582751