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_005359.6(SMAD4):c.1051G>C (p.Asp351His)	SMAD4	Likely pathogenic	18	48591888	48591888	G	C	criteria provided, single submitter	ClinGen:CA16602471
Deletion	NC_000010.11:g.(?_86838865)_(86900126_?)del	BMPR1A	Pathogenic	10	88598622	88659883	na	na	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.934del (p.His312fs)	BMPR1A	Pathogenic	10	88678993	88678993	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612982
Deletion	NM_004329.3(BMPR1A):c.213_228del (p.Ala71_Ile72insTer)	BMPR1A	Pathogenic	10	88649960	88649975	GATGCTATTAATAACAC	G	criteria provided, single submitter	ClinGen:CA16613195
Duplication	NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs)	BMPR1A	Pathogenic	10	88678975	88678976	C	CTATT	criteria provided, single submitter	ClinGen:CA16613203
Deletion	NM_005359.6(SMAD4):c.1198del (p.Arg400fs)	SMAD4	Pathogenic	18	48593447	48593447	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615798
single nucleotide variant	NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)	SMAD4	Likely pathogenic	18	48604673	48604673	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615805
Deletion	NM_005359.6(SMAD4):c.1529del (p.Gly510fs)	SMAD4	Pathogenic	18	48604704	48604704	TG	T	criteria provided, single submitter	ClinGen:CA16615816
Deletion	NM_005359.6(SMAD4):c.263_267del (p.Lys88fs)	SMAD4	Pathogenic	18	48575066	48575070	CGGAAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615823
Deletion	NC_000018.10:g.(?_51067019)_(51085042_?)del	SMAD4	Pathogenic	18	48593389	48611412	na	na	criteria provided, single submitter	-