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_000020.3(ACVRL1):c.854T>C (p.Leu285Pro)	ACVRL1	Likely pathogenic	12	52309090	52309090	T	C	criteria provided, single submitter	ClinGen:CA384900566
single nucleotide variant	NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg)	ACVRL1	Pathogenic	12	52309191	52309191	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384901287
single nucleotide variant	NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)	ACVRL1	Pathogenic/Likely pathogenic	12	52309826	52309826	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384901981
single nucleotide variant	NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys)	ACVRL1	Pathogenic	12	52309895	52309895	A	G	criteria provided, single submitter	ClinGen:CA384902433
single nucleotide variant	NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro)	ACVRL1	Likely pathogenic	12	52309913	52309913	T	C	criteria provided, single submitter	ClinGen:CA384902555
single nucleotide variant	NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)	ACVRL1	Likely pathogenic	12	52309966	52309966	T	C	criteria provided, single submitter	ClinGen:CA384902882
single nucleotide variant	NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr)	ACVRL1	Likely pathogenic	12	52312792	52312792	C	A	criteria provided, single submitter	ClinGen:CA384903725
single nucleotide variant	NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)	ACVRL1	Pathogenic	12	52314550	52314550	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384905272
single nucleotide variant	NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)	ACVRL1	Pathogenic	12	52314601	52314601	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384905684
single nucleotide variant	NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro)	ACVRL1	Pathogenic	12	52314601	52314601	G	C	criteria provided, single submitter	ClinGen:CA384905687