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.1428+1G>A	ENG	Pathogenic/Likely pathogenic	9	130580994	130580994	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322731
single nucleotide variant	NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)	ENG	Pathogenic	9	130581111	130581111	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322837
single nucleotide variant	NM_001114753.3(ENG):c.1272+1G>A	ENG	Pathogenic	9	130582178	130582178	C	T	criteria provided, single submitter	ClinGen:CA320498
Deletion	NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	ENG	Pathogenic	9	130586634	130586637	TTGTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324999
single nucleotide variant	NM_001114753.3(ENG):c.689+2T>C	ENG	Pathogenic	9	130587972	130587972	A	G	criteria provided, single submitter	ClinGen:CA324588
single nucleotide variant	NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)	ENG	Pathogenic	9	130588101	130588101	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324406
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.247C>T (p.Gln83Ter)	ENG	Pathogenic	9	130592079	130592079	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322606
Duplication	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA319771
single nucleotide variant	NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)	ACVRL1	Pathogenic	12	52306973	52306973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324720,UniProtKB:P37023#VAR_006205