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
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_000010.10:g.(?_88649809)_(89725239_?)del	BMPR1A	Pathogenic	10	88649809	89725239	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	-
Duplication	NM_004329.3(BMPR1A):c.143dup (p.Thr49fs)	BMPR1A	Likely pathogenic	10	88649893	88649894	G	GT	criteria provided, single submitter	ClinGen:CA16618997
Deletion	NM_004329.3(BMPR1A):c.150del (p.Ala51fs)	BMPR1A	Pathogenic	10	88649901	88649901	TA	T	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.160del (p.Asp54fs)	BMPR1A	Pathogenic	10	88649910	88649910	AG	A	criteria provided, single submitter	ClinGen:CA645369466