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.1308+2T>C	SMAD4	Pathogenic	18	48593559	48593559	T	C	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del)	ENG	Likely pathogenic	9	130588071	130588082	GGCCGCCACTCGA	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)	SMAD4	Likely pathogenic	18	48604701	48604701	G	A	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127824284)_(127829847_?)del	ENG	Likely pathogenic	9	130586563	130592126	na	na	criteria provided, single submitter	-
Deletion	NM_000118.3(ENG):c.1687delG	ENG	Pathogenic	9	130579482	130579482	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.1509del (p.Val504fs)	ENG	Pathogenic	9	130580576	130580576	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)	ENG	Pathogenic	9	130582282	130582282	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.991+2T>C	ENG	Pathogenic	9	130587077	130587077	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.911_918del (p.Arg304fs)	ENG	Pathogenic	9	130587152	130587159	TGAGCATCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)	ENG	Likely pathogenic	9	130587186	130587186	G	A	criteria provided, single submitter	-