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.360+5G>C	ENG	Pathogenic/Likely pathogenic	9	130591961	130591961	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612712
Deletion	NC_000009.12:g.(?_127829681)_(127829833_?)del	ENG	Pathogenic	9	130591960	130592112	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.374T>A (p.Val125Asp)	ENG	Likely pathogenic	9	130588938	130588938	A	T	criteria provided, single submitter	ClinGen:CA374984418
Deletion	NM_001114753.3(ENG):c.392del (p.Pro131fs)	ENG	Pathogenic	9	130588920	130588920	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656043
Deletion	NM_001114753.3(ENG):c.397del (p.Val133fs)	ENG	Pathogenic	9	130588915	130588915	AC	A	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.408del (p.Glu137fs)	ENG	Likely pathogenic	9	130588904	130588904	CT	C	criteria provided, single submitter	ClinGen:CA658797296
single nucleotide variant	NM_001114753.3(ENG):c.446G>A (p.Trp149Ter)	ENG	Pathogenic	9	130588866	130588866	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA320116
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
Deletion	NM_001114753.3(ENG):c.469del (p.Thr157fs)	ENG	Pathogenic	9	130588843	130588843	GT	G	criteria provided, single submitter	ClinGen:CA658797295
Deletion	NM_001114753.3(ENG):c.488_491del (p.Asn163fs)	ENG	Pathogenic	9	130588821	130588824	GTCAT	G	criteria provided, single submitter	-