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.2T>G (p.Met1Arg)	ENG	Pathogenic	9	130616633	130616633	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989708
single nucleotide variant	NM_001114753.3(ENG):c.219+1G>A	ENG	Pathogenic	9	130605372	130605372	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374988833
Deletion	NM_001114753.3(ENG):c.244del (p.Leu82fs)	ENG	Pathogenic	9	130592082	130592082	AG	A	criteria provided, single submitter	ClinGen:CA658656047
Deletion	NM_001114753.3(ENG):c.392del (p.Pro131fs)	ENG	Pathogenic	9	130588920	130588920	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656043
Duplication	NM_001114753.3(ENG):c.904dup (p.Glu302fs)	ENG	Pathogenic	9	130587165	130587166	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656033
single nucleotide variant	NM_001114753.3(ENG):c.1428+2T>A	ENG	Pathogenic	9	130580993	130580993	A	T	criteria provided, single submitter	ClinGen:CA374976461
Deletion	NC_000009.12:g.(?_127829681)_(127829833_?)del	ENG	Pathogenic	9	130591960	130592112	na	na	criteria provided, single submitter	-
Duplication	NC_000009.11:g.(?_130586563)_(130592126_?)dup	ENG	Likely pathogenic	9	130586563	130592126	na	na	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.229del (p.Gln77fs)	ENG	Pathogenic	9	130592097	130592097	TG	T	criteria provided, single submitter	ClinGen:CA658656048
single nucleotide variant	NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	ENG	Pathogenic	9	130587518	130587518	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374983040