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
Duplication	NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)	BMPR1A	Pathogenic/Likely pathogenic	10	88635814	88635815	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)	BMPR1A	Pathogenic	10	88635817	88635820	ATTTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797453,OMIM:601299.0001
single nucleotide variant	NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)	BMPR1A	Pathogenic	10	88635839	88635839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377774871
single nucleotide variant	NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg)	BMPR1A	Likely pathogenic	10	88635842	88635842	G	A	criteria provided, single submitter	ClinGen:CA377774875
Deletion	NC_000010.11:g.(?_86876009)_(86876095_?)del	BMPR1A	Pathogenic	10	88635766	88635852	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.68-1G>C	BMPR1A	Pathogenic	10	88649818	88649818	G	C	criteria provided, single submitter	ClinGen:CA377446197
single nucleotide variant	NM_004329.3(BMPR1A):c.68-1G>A	BMPR1A	Pathogenic/Likely pathogenic	10	88649818	88649818	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377446195
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.133_134del (p.Glu45fs)	BMPR1A	Pathogenic	10	88649883	88649884	CAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter)	BMPR1A	Pathogenic	10	88649890	88649890	G	T	criteria provided, multiple submitters, no conflicts	-