若年性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
Duplication	NM_004329.3(BMPR1A):c.874dup (p.Ile292fs)	BMPR1A	Pathogenic	10	88678933	88678934	C	CA	criteria provided, single submitter	ClinGen:CA658657986
Deletion	NM_004329.3(BMPR1A):c.869-2_871del	BMPR1A	Likely pathogenic	10	88678927	88678931	CAGGTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.868+1G>A	BMPR1A	Likely pathogenic	10	88677084	88677084	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004329.3(BMPR1A):c.864dup (p.Leu289fs)	BMPR1A	Pathogenic	10	88677078	88677079	T	TA	criteria provided, single submitter	ClinGen:CA658797467
Duplication	NM_004329.3(BMPR1A):c.847dup (p.Met283fs)	BMPR1A	Pathogenic	10	88677060	88677061	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter)	BMPR1A	Pathogenic	10	88677049	88677049	C	A	criteria provided, single submitter	ClinGen:CA377458622
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.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.813G>A (p.Trp271Ter)	BMPR1A	Pathogenic	10	88677028	88677028	G	A	criteria provided, single submitter	-
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