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.200G>A (p.Arg67Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52307021	52307021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325011,UniProtKB:P37023#VAR_006206
single nucleotide variant	NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320646
Deletion	NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	ACVRL1	Pathogenic/Likely pathogenic	12	52307433	52307436	CTGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321394
single nucleotide variant	NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1	Pathogenic	12	52307459	52307459	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321605
single nucleotide variant	NM_000020.3(ACVRL1):c.986G>A (p.Arg329His)	ACVRL1	Pathogenic/Likely pathogenic	12	52309222	52309222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321832
single nucleotide variant	NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	ACVRL1	Pathogenic	12	52309234	52309234	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322708,UniProtKB:P37023#VAR_006210
Deletion	NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs)	ACVRL1	Pathogenic	12	52309892	52309892	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320332
single nucleotide variant	NM_000020.3(ACVRL1):c.1377+1G>A	ACVRL1	Pathogenic	12	52312900	52312900	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322270
single nucleotide variant	NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)	ACVRL1	Pathogenic	12	52314580	52314580	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	ACVRL1	Pathogenic	12	52314616	52314616	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323134