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.868+1G>A	BMPR1A	Likely pathogenic	10	88677084	88677084	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1342+2T>G	BMPR1A	Likely pathogenic	10	88681454	88681454	T	G	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(86756919_?)del	BMPR1A	Likely pathogenic	10	88514773	88516676	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(86923729_?)del	BMPR1A	Pathogenic	10	88514773	88683486	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86838866)_(87965482_?)del	BMPR1A	Pathogenic	10	88598623	89725239	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86876009)_(86923729_?)del	BMPR1A	Pathogenic	10	88635766	88683486	na	na	criteria provided, single submitter	-