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
Deletion	NM_004329.3(BMPR1A):c.419del (p.Pro140fs)	BMPR1A	Pathogenic	10	88659632	88659632	GC	G	criteria provided, single submitter	ClinGen:CA658797456
Duplication	NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)	BMPR1A	Pathogenic	10	88659620	88659621	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578878
single nucleotide variant	NM_004329.3(BMPR1A):c.388T>C (p.Cys130Arg)	BMPR1A	Pathogenic	10	88659605	88659605	T	C	criteria provided, single submitter	ClinGen:CA377449596
single nucleotide variant	NM_004329.3(BMPR1A):c.373T>G (p.Cys125Gly)	BMPR1A	Pathogenic	10	88659590	88659590	T	G	criteria provided, single submitter	ClinGen:CA377449439
single nucleotide variant	NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr)	BMPR1A	Pathogenic/Likely pathogenic	10	88659588	88659588	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168082
single nucleotide variant	NM_004329.3(BMPR1A):c.370T>A (p.Cys124Ser)	BMPR1A	Likely pathogenic	10	88659587	88659587	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)	BMPR1A	Pathogenic/Likely pathogenic	10	88659587	88659587	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA194624,UniProtKB:P36894#VAR_015533,OMIM:601299.0006
Deletion	NM_004329.3(BMPR1A):c.369del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659585	88659585	GA	G	criteria provided, single submitter	ClinGen:CA288008
Deletion	NM_004329.3(BMPR1A):c.367del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659584	88659584	AG	A	criteria provided, single submitter	ClinGen:CA645369423
Deletion	NM_004329.3(BMPR1A):c.366_384del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659579	88659597	ACAATAGAATGTTGTCGGAC	A	criteria provided, single submitter	ClinGen:CA658797455