遺伝性混合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
Deletion	NC_000010.11:g.(?_86755016)_(86756919_?)del	BMPR1A	Likely pathogenic	10	88514773	88516676	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1342+2T>G	BMPR1A	Likely pathogenic	10	88681454	88681454	T	G	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	-
single nucleotide variant	NM_004329.3(BMPR1A):c.370T>A (p.Cys124Ser)	BMPR1A	Likely pathogenic	10	88659587	88659587	T	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.-1_2del (p.Met1del)	BMPR1A	Likely pathogenic	10	88635775	88635777	CAAT	C	criteria provided, single submitter	-
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.231-1G>C	BMPR1A	Likely pathogenic	10	88651883	88651883	G	C	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86755016)_(86757045_?)del	BMPR1A	Likely pathogenic	10	88514773	88516802	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys)	BMPR1A	Likely pathogenic	10	88679081	88679081	G	T	criteria provided, single submitter	ClinGen:CA377460608
single nucleotide variant	NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe)	BMPR1A	Likely pathogenic	10	88651898	88651898	G	T	criteria provided, single submitter	ClinGen:CA377447951