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.1046T>C (p.Leu349Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52309282	52309282	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52309266	52309266	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52307091	52307091	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	ENG	Pathogenic/Likely pathogenic	9	130588789	130588789	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)	ENG	Pathogenic/Likely pathogenic	9	130588004	130588004	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)	ACVRL1	Pathogenic/Likely pathogenic	12	52312843	52312843	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)	ACVRL1	Pathogenic/Likely pathogenic	12	52309886	52309886	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52308274	52308274	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	ENG	Pathogenic/Likely pathogenic	9	130605437	130605437	C	T	criteria provided, multiple submitters, no conflicts	-