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.302del (p.Leu101fs)	ACVRL1	Likely pathogenic	12	52307123	52307123	CT	C	criteria provided, single submitter	ClinGen:CA16619568
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.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.1460A>C (p.Lys487Thr)	ACVRL1	Likely pathogenic	12	52314625	52314625	A	C	criteria provided, single submitter	ClinGen:CA384905912
single nucleotide variant	NM_001114753.3(ENG):c.374T>A (p.Val125Asp)	ENG	Likely pathogenic	9	130588938	130588938	A	T	criteria provided, single submitter	ClinGen:CA374984418
single nucleotide variant	NM_000020.3(ACVRL1):c.1285G>T (p.Val429Leu)	ACVRL1	Likely pathogenic	12	52312807	52312807	G	T	criteria provided, single submitter	ClinGen:CA384903827
single nucleotide variant	NM_000020.3(ACVRL1):c.1048+2T>G	ACVRL1	Likely pathogenic	12	52309286	52309286	T	G	criteria provided, single submitter	ClinGen:CA384901886
single nucleotide variant	NM_001114753.3(ENG):c.781T>G (p.Trp261Gly)	ENG	Likely pathogenic	9	130587545	130587545	A	C	criteria provided, single submitter	ClinGen:CA374983206