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.1121G>A (p.Arg374Gln)	ACVRL1	Pathogenic	12	52309892	52309892	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614168
single nucleotide variant	NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)	ACVRL1	Pathogenic	12	52309988	52309988	G	A	criteria provided, single submitter	ClinGen:CA16614169
Deletion	NM_000020.3(ACVRL1):c.302del (p.Leu101fs)	ACVRL1	Likely pathogenic	12	52307123	52307123	CT	C	criteria provided, single submitter	ClinGen:CA16619568
Deletion	NM_000020.3(ACVRL1):c.916del (p.Ala306fs)	ACVRL1	Pathogenic	12	52309152	52309152	CG	C	criteria provided, single submitter	ClinGen:CA16619569
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
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.818T>C (p.Leu273Pro)	ACVRL1	Pathogenic	12	52309054	52309054	T	C	criteria provided, single submitter	ClinGen:CA384900434
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.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