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.914C>T (p.Ser305Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52309150	52309150	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900954
single nucleotide variant	NM_000020.3(ACVRL1):c.626-3C>G	ACVRL1	Pathogenic	12	52308220	52308220	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509324
Deletion	NM_000020.3(ACVRL1):c.271del (p.Asp91fs)	ACVRL1	Pathogenic	12	52307092	52307092	CG	C	criteria provided, single submitter	ClinGen:CA645509322
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_000020.3(ACVRL1):c.639T>G (p.Tyr213Ter)	ACVRL1	Pathogenic	12	52308236	52308236	T	G	criteria provided, single submitter	ClinGen:CA384899973
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.1135G>A (p.Glu379Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309906	52309906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902497
Deletion	NM_000020.3(ACVRL1):c.295_299del (p.Val99fs)	ACVRL1	Pathogenic	12	52307115	52307119	ACGTGT	A	criteria provided, single submitter	ClinGen:CA645294069
single nucleotide variant	NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	ACVRL1	Pathogenic	12	52314633	52314633	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384906013
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