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
Deletion	NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs)	ACVRL1	Pathogenic	12	52309892	52309892	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320332
single nucleotide variant	NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	ACVRL1	Pathogenic	12	52309234	52309234	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322708,UniProtKB:P37023#VAR_006210
single nucleotide variant	NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1	Pathogenic	12	52307459	52307459	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321605
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
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_001114753.3(ENG):c.247C>T (p.Gln83Ter)	ENG	Pathogenic	9	130592079	130592079	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322606
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.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.689+2T>C	ENG	Pathogenic	9	130587972	130587972	A	G	criteria provided, single submitter	ClinGen:CA324588
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