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.1065del (p.Lys355fs)	BMPR1A	Pathogenic	10	88679125	88679125	AG	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)	BMPR1A	Pathogenic	10	88679120	88679120	AG	A	criteria provided, single submitter	ClinGen:CA658657989
Duplication	NM_004329.3(BMPR1A):c.1058_1059dup (p.Gly354fs)	BMPR1A	Pathogenic	10	88679117	88679118	C	CAA	criteria provided, single submitter	ClinGen:CA645369465
single nucleotide variant	NM_004329.3(BMPR1A):c.1037A>G (p.His346Arg)	BMPR1A	Likely pathogenic	10	88679097	88679097	A	G	criteria provided, single submitter	ClinGen:CA168682
single nucleotide variant	NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys)	BMPR1A	Likely pathogenic	10	88679081	88679081	G	T	criteria provided, single submitter	ClinGen:CA377460608
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