遺伝性混合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.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
Deletion	NC_000010.11:g.(?_86755016)_(86923729_?)del	BMPR1A	Pathogenic	10	88514773	88683486	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	-
Deletion	NM_004329.2(BMPR1A):c.-152-?_*1469del	BMPR1A	Pathogenic	10	88635624	88684945	na	na	criteria provided, single submitter	-
Deletion	NC_000010.10:g.(?_88649809)_(89725239_?)del	BMPR1A	Pathogenic	10	88649809	89725239	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(87965482_?)del	BMPR1A	Pathogenic	10	88514773	89725239	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	-