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	NM_000020.3(ACVRL1):c.889del (p.His297fs)	ACVRL1	Pathogenic	12	52309122	52309122	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614159
Deletion	NM_000020.3(ACVRL1):c.190del (p.Gln64fs)	ACVRL1	Pathogenic	12	52307007	52307007	AC	A	criteria provided, single submitter	ClinGen:CA16614036
Duplication	NM_000020.3(ACVRL1):c.41dup (p.Met15fs)	ACVRL1	Pathogenic	12	52306298	52306299	C	CT	criteria provided, single submitter	ClinGen:CA16614035
single nucleotide variant	NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter)	ACVRL1	Pathogenic	12	52309077	52309077	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613819
single nucleotide variant	NM_000020.3(ACVRL1):c.1378-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52314542	52314542	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613756
Deletion	NM_000020.3(ACVRL1):c.525+1del	ACVRL1	Pathogenic	12	52307551	52307551	TG	T	criteria provided, single submitter	ClinGen:CA16613748
Deletion	NM_000020.3(ACVRL1):c.183del (p.Arg61fs)	ACVRL1	Pathogenic	12	52307003	52307003	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613747
Deletion	NC_000012.12:g.(?_51920759)_(51923361_?)del	ACVRL1	Pathogenic	12	52314543	52317145	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309990	52309990	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607366
single nucleotide variant	NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52306961	52306961	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607361