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_000020.3(ACVRL1):c.1157G>A (p.Arg386His)	ACVRL1	Likely pathogenic	12	52309928	52309928	G	A	criteria provided, single submitter	ClinGen:CA211329
single nucleotide variant	NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)	ENG	Likely pathogenic	9	130592067	130592067	G	A	criteria provided, single submitter	ClinGen:CA346329
single nucleotide variant	NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr)	SMAD4	Likely pathogenic	18	48591925	48591925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580985
Duplication	NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs)	ACVRL1	Likely pathogenic	12	52314567	52314568	A	ATGCGGGAG	criteria provided, single submitter	ClinGen:CA16043812
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	NC_000009.11:g.(?_130605373)_(130605524_?)dup	ENG	Likely pathogenic	9	130605373	130605524	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)	ACVRL1	Likely pathogenic	12	52309240	52309240	A	T	criteria provided, single submitter	ClinGen:CA16614166
single nucleotide variant	NM_000020.3(ACVRL1):c.1049-1G>A	ACVRL1	Likely pathogenic	12	52309819	52309819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614167
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
single nucleotide variant	NM_005359.6(SMAD4):c.1447+2T>C	SMAD4	Likely pathogenic	18	48603148	48603148	T	C	criteria provided, single submitter	ClinGen:CA16616086