遺伝性出血性末梢血管拡張症 (オスラー病)

小児・神経疾患

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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_005359.6(SMAD4):c.728_735del (p.Gly243fs)	SMAD4	Pathogenic	18	48584551	48584558	ATCAGGGCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616070
Deletion	NC_000018.10:g.(?_51067019)_(51085042_?)del	SMAD4	Pathogenic	18	48593389	48611412	na	na	criteria provided, single submitter	-
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	NM_005359.6(SMAD4):c.1529del (p.Gly510fs)	SMAD4	Pathogenic	18	48604704	48604704	TG	T	criteria provided, single submitter	ClinGen:CA16615816
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.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.1051G>C (p.Asp351His)	SMAD4	Likely pathogenic	18	48591888	48591888	G	C	criteria provided, single submitter	ClinGen:CA16602471
Duplication	NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter)	SMAD4	Pathogenic	18	48593453	48593454	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583707
single nucleotide variant	NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter)	SMAD4	Pathogenic	18	48586237	48586237	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583704
Duplication	NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs)	SMAD4	Pathogenic	18	48604762	48604763	C	CTT	criteria provided, single submitter	ClinGen:CA10580992