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.1081C>T (p.Arg361Ter)	BMPR1A	Pathogenic	10	88679141	88679141	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA186249
Deletion	NM_004329.3(BMPR1A):c.420del (p.Val141fs)	BMPR1A	Pathogenic	10	88659637	88659637	CT	C	criteria provided, single submitter	ClinGen:CA190154
Duplication	NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)	BMPR1A	Pathogenic	10	88649965	88649966	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA189133
Deletion	NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)	BMPR1A	Pathogenic	10	88649922	88649922	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA186193
single nucleotide variant	NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)	BMPR1A	Pathogenic	10	88651915	88651915	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298508
single nucleotide variant	NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)	BMPR1A	Pathogenic	10	88676897	88676897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294476
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
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
Deletion	NM_004329.3(BMPR1A):c.369del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659585	88659585	GA	G	criteria provided, single submitter	ClinGen:CA288008
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