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_005359.6(SMAD4):c.1363C>T (p.Gln455Ter)	SMAD4	Pathogenic	18	48603062	48603062	C	T	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127854279)_(127854482_?)del	ENG	Pathogenic	9	130616558	130616761	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.992-2A>G	ENG	Pathogenic	9	130586727	130586727	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.689+1G>A	ENG	Pathogenic	9	130587973	130587973	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.991+2T>G	ENG	Pathogenic	9	130587077	130587077	A	C	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51912465)_(51920903_?)del	ACVRL1	Pathogenic	12	52306249	52314687	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.625+2T>C	ACVRL1	Pathogenic	12	52307859	52307859	T	C	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51920691)_(51920903_?)del	ACVRL1	Pathogenic	12	52314475	52314687	na	na	criteria provided, single submitter	-