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.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.853C>T (p.Leu285Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52309089	52309089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900562
single nucleotide variant	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52307020	52307020	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897887
single nucleotide variant	NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52312858	52312858	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619571
Deletion	NM_001114753.3(ENG):c.895del (p.Leu299fs)	ENG	Pathogenic/Likely pathogenic	9	130587175	130587175	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618748
Deletion	NM_001114753.3(ENG):c.1657del (p.Leu553fs)	ENG	Pathogenic/Likely pathogenic	9	130580428	130580428	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618745
single nucleotide variant	NM_000020.3(ACVRL1):c.1378-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52314542	52314542	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613756
single nucleotide variant	NM_001114753.3(ENG):c.219G>A (p.Thr73=)	ENG	Pathogenic/Likely pathogenic	9	130605373	130605373	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5253209
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
single nucleotide variant	NM_001114753.3(ENG):c.-127C>T	ENG	Pathogenic/Likely pathogenic	9	130616761	130616761	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612603