若年性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.1013C>A (p.Ala338Asp)	BMPR1A	Likely pathogenic	10	88679073	88679073	C	A	criteria provided, single submitter	ClinGen:CA254361,UniProtKB:P36894#VAR_015534,OMIM:601299.0005
single nucleotide variant	NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter)	BMPR1A	Pathogenic	10	88679070	88679070	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377460547
Indel	NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)	BMPR1A	Pathogenic	10	88679047	88679052	AGCCCT	TGTA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.964A>T (p.Lys322Ter)	BMPR1A	Pathogenic	10	88679024	88679024	A	T	criteria provided, single submitter	ClinGen:CA377460285
Deletion	NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer)	BMPR1A	Pathogenic	10	88679020	88679020	TC	T	criteria provided, single submitter	ClinGen:CA658657988,OMIM:601299.0004
Duplication	NM_004329.3(BMPR1A):c.957dup (p.Phe320fs)	BMPR1A	Pathogenic	10	88679016	88679017	A	AC	criteria provided, single submitter	ClinGen:CA658657987
Deletion	NM_004329.3(BMPR1A):c.934del (p.His312fs)	BMPR1A	Pathogenic	10	88678993	88678993	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612982
Duplication	NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs)	BMPR1A	Pathogenic	10	88678975	88678976	C	CTATT	criteria provided, single submitter	ClinGen:CA16613203
single nucleotide variant	NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter)	BMPR1A	Pathogenic	10	88678970	88678970	C	T	criteria provided, single submitter	ClinGen:CA377460001
Indel	NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer)	BMPR1A	Pathogenic	10	88678944	88678944	A	GTTCATAGCGG	criteria provided, single submitter	ClinGen:CA10578889