遺伝性出血性末梢血管拡張症 (オスラー病)

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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	NC_000012.12:g.(?_51913954)_(51919135_?)del	ACVRL1	Pathogenic	12	52307738	52312919	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51913079)_(51913790_?)del	ACVRL1	Pathogenic	12	52306863	52307574	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51913539)_(51919135_?)del	ACVRL1	Pathogenic	12	52307323	52312919	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	ACVRL1	Pathogenic	12	52307833	52307833	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384899825
single nucleotide variant	NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter)	ACVRL1	Pathogenic	12	52307468	52307468	C	T	criteria provided, single submitter	ClinGen:CA384898875
Insertion	NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797915
Deletion	NM_000020.3(ACVRL1):c.105del (p.Cys36fs)	ACVRL1	Pathogenic	12	52306926	52306926	CG	C	criteria provided, single submitter	ClinGen:CA658683789
single nucleotide variant	NM_000020.3(ACVRL1):c.1246+2T>C	ACVRL1	Pathogenic	12	52310019	52310019	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384903098
single nucleotide variant	NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val)	ACVRL1	Pathogenic/Likely pathogenic	12	52309897	52309897	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902445
single nucleotide variant	NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter)	ACVRL1	Pathogenic	12	52314578	52314578	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384905493