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
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_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	ACVRL1	Pathogenic	12	52314633	52314633	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384906013
Deletion	NM_000020.3(ACVRL1):c.295_299del (p.Val99fs)	ACVRL1	Pathogenic	12	52307115	52307119	ACGTGT	A	criteria provided, single submitter	ClinGen:CA645294069
Deletion	NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)	ENG	Pathogenic/Likely pathogenic	9	130582255	130582256	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369413
Deletion	NM_001114753.3(ENG):c.1195del (p.Arg399fs)	ENG	Pathogenic	9	130582256	130582256	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369414
single nucleotide variant	NM_001114753.3(ENG):c.526C>T (p.Gln176Ter)	ENG	Pathogenic	9	130588137	130588137	G	A	criteria provided, single submitter	ClinGen:CA374983805
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.1135G>A (p.Glu379Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309906	52309906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902497
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
Deletion	NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)	ENG	Pathogenic	9	130586632	130586633	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372488