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
single nucleotide variant	NM_004329.3(BMPR1A):c.1A>G (p.Met1Val)	BMPR1A	Pathogenic/Likely pathogenic	10	88635776	88635776	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195612
single nucleotide variant	NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr)	BMPR1A	Pathogenic/Likely pathogenic	10	88659588	88659588	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168082
single nucleotide variant	NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)	BMPR1A	Pathogenic/Likely pathogenic	10	88659587	88659587	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA194624,UniProtKB:P36894#VAR_015533,OMIM:601299.0006
Deletion	NC_000010.11:g.(?_86876009)_(86923729_?)del	BMPR1A	Pathogenic	10	88635766	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.(?_86755016)_(86923729_?)del	BMPR1A	Pathogenic	10	88514773	88683486	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	-
Deletion	NC_000010.11:g.(?_86755016)_(87965482_?)del	BMPR1A	Pathogenic	10	88514773	89725239	na	na	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.1267del (p.Gln423fs)	BMPR1A	Pathogenic	10	88681376	88681376	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter)	BMPR1A	Pathogenic	10	88677028	88677028	G	A	criteria provided, single submitter	-