遺伝性混合ポリポーシス症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NC_000015.9:g.(?_32971947)_(33004759_?)dup	GREM1	Pathogenic	15	32971947	33004759	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(86757045_?)del	BMPR1A	Likely pathogenic	10	88514773	88516802	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.(?_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	NM_004329.3(BMPR1A):c.-547_-268+1del	BMPR1A	Pathogenic	10	88516395	88516675	CGGCGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCG	C	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86838865)_(86900126_?)del	BMPR1A	Pathogenic	10	88598622	88659883	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	NM_004329.2(BMPR1A):c.-152-?_*1469del	BMPR1A	Pathogenic	10	88635624	88684945	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86876009)_(86876095_?)del	BMPR1A	Pathogenic	10	88635766	88635852	na	na	criteria provided, single submitter	-