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.812G>A (p.Trp271Ter)	BMPR1A	Pathogenic	10	88677027	88677027	G	A	criteria provided, single submitter	ClinGen:CA254358,OMIM:601299.0003
single nucleotide variant	NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp)	BMPR1A	Likely pathogenic	10	88679073	88679073	C	A	criteria provided, single submitter	ClinGen:CA254361,UniProtKB:P36894#VAR_015534,OMIM:601299.0005
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	NM_004329.3(BMPR1A):c.369del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659585	88659585	GA	G	criteria provided, single submitter	ClinGen:CA288008
single nucleotide variant	NM_004329.3(BMPR1A):c.1474-2A>G	BMPR1A	Likely pathogenic	10	88683349	88683349	A	G	criteria provided, single submitter	ClinGen:CA164082
Deletion	NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs)	BMPR1A	Pathogenic	10	88677040	88677041	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA166103
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.817C>T (p.Arg273Ter)	BMPR1A	Pathogenic	10	88677032	88677032	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168144
single nucleotide variant	NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg)	BMPR1A	Likely pathogenic	10	88679097	88679097	A	G	criteria provided, single submitter	ClinGen:CA168682
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