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	NM_004329.3(BMPR1A):c.244del (p.Cys82fs)	BMPR1A	Pathogenic	10	88651896	88651896	AT	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.150del (p.Ala51fs)	BMPR1A	Pathogenic	10	88649901	88649901	TA	T	criteria provided, single submitter	-
Insertion	NM_004329.3(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Ser37_Asp38insHisGlyThrGlyIle)	BMPR1A	Pathogenic	10	88649861	88649862	C	CCCATGGCACTGGGAT	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.1065del (p.Lys355fs)	BMPR1A	Pathogenic	10	88679125	88679125	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter)	BMPR1A	Pathogenic	10	88649940	88649940	C	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.674del (p.Leu225fs)	BMPR1A	Pathogenic	10	88672139	88672139	AT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)	BMPR1A	Pathogenic	10	88672031	88672032	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000010.11:g.(?_86912230)_(86917336_?)del	BMPR1A	Pathogenic	10	88671987	88677093	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter)	BMPR1A	Pathogenic	10	88683164	88683164	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004329.3(BMPR1A):c.847dup (p.Met283fs)	BMPR1A	Pathogenic	10	88677060	88677061	T	TA	criteria provided, single submitter	-