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_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4	Pathogenic/Likely pathogenic	18	48604664	48604664	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA145285
Deletion	NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)	SMAD4	Pathogenic/Likely pathogenic	18	48603043	48603067	AGCAGCAGGCGGCTACTGCACAAGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168695
single nucleotide variant	NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)	SMAD4	Pathogenic	18	48603044	48603044	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA163884
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>T	SMAD4	Likely pathogenic	18	48593558	48593558	G	T	criteria provided, single submitter	ClinGen:CA164956
Deletion	NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	SMAD4	Pathogenic	18	48593491	48593494	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259232,OMIM:600993.0005
single nucleotide variant	NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52306964	52306964	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270765,OMIM:601284.0005
Duplication	NM_005359.6(SMAD4):c.1547dup (p.Ser517fs)	SMAD4	Pathogenic	18	48604724	48604725	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA270878
single nucleotide variant	NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)	ACVRL1	Likely pathogenic	12	52309928	52309928	G	A	criteria provided, single submitter	ClinGen:CA211329
single nucleotide variant	NM_001114753.3(ENG):c.1273-2A>G	ENG	Pathogenic/Likely pathogenic	9	130581941	130581941	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA211924
Indel	NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)	SMAD4	Pathogenic	18	48575132	48575132	T	AAATATGAAC	criteria provided, single submitter	ClinGen:CA234927