若年性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
Deletion	NM_004329.3(BMPR1A):c.771del (p.Val258fs)	BMPR1A	Pathogenic	10	88676982	88676982	GA	G	criteria provided, single submitter	ClinGen:CA10582748
single nucleotide variant	NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter)	BMPR1A	Pathogenic	10	88676950	88676950	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377457369
Duplication	NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs)	BMPR1A	Pathogenic	10	88676945	88676946	C	CG	criteria provided, single submitter	ClinGen:CA658797466
single nucleotide variant	NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)	BMPR1A	Pathogenic	10	88676945	88676945	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619004
single nucleotide variant	NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88676912	88676912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377457014
single nucleotide variant	NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)	BMPR1A	Pathogenic	10	88676897	88676897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294476
single nucleotide variant	NM_004329.3(BMPR1A):c.676-1G>A	BMPR1A	Pathogenic/Likely pathogenic	10	88676890	88676890	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377456808
Deletion	NM_001406583.1(BMPR1A):c.676-6del	BMPR1A	Likely pathogenic	10	88676890	88676890	AG	A	criteria provided, single submitter	ClinGen:CA16619003
single nucleotide variant	NM_004329.3(BMPR1A):c.675+1G>C	BMPR1A	Likely pathogenic	10	88672142	88672142	G	C	criteria provided, single submitter	ClinGen:CA10582746
Deletion	NM_004329.3(BMPR1A):c.674del (p.Leu225fs)	BMPR1A	Pathogenic	10	88672139	88672139	AT	A	criteria provided, multiple submitters, no conflicts	-