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
single nucleotide variant	NM_000118.3(ENG):c.726C>A (p.Cys242Ter)	ENG	Pathogenic	9	130587600	130587600	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.787+1G>A	SMAD4	Likely pathogenic	18	48584615	48584615	G	A	criteria provided, single submitter	-
duplication	NM_000118.3(ENG):c.780_789dup (p.Asp264fs)	ENG	Likely pathogenic	9	130587536	130587537	C	CGATGAGCCAG	criteria provided, single submitter	-