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_001114753.3(ENG):c.447G>C (p.Trp149Cys)	ENG	Pathogenic	9	130588865	130588865	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582615,UniProtKB:P17813#VAR_005195
single nucleotide variant	NM_001114753.3(ENG):c.68-1G>A	ENG	Pathogenic/Likely pathogenic	9	130605525	130605525	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582616
Deletion	NM_001114753.3(ENG):c.67del (p.Ser23fs)	ENG	Pathogenic	9	130616568	130616568	CT	C	criteria provided, single submitter	ClinGen:CA10582617
single nucleotide variant	NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)	ACVRL1	Pathogenic	12	52309058	52309058	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6573002
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.1206dup (p.Ser403Ter)	SMAD4	Pathogenic	18	48593453	48593454	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583707
single nucleotide variant	NM_001114753.3(ENG):c.360+1G>A	ENG	Pathogenic	9	130591965	130591965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588467,OMIM:131195.0005
single nucleotide variant	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG	Pathogenic	9	130592049	130592049	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588468
Deletion	NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs)	ENG	Pathogenic	9	130580530	130580531	AGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603021
single nucleotide variant	NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)	ENG	Pathogenic	9	130587510	130587510	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603083