遺伝性出血性末梢血管拡張症 (オスラー病)

小児・神経疾患

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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_001114753.3(ENG):c.899T>C (p.Leu300Pro)	ENG	Pathogenic/Likely pathogenic	9	130587171	130587171	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	ENG	Pathogenic/Likely pathogenic	9	130581903	130581903	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.526-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52307757	52307757	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.1309-1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48603007	48603007	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465095
single nucleotide variant	NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307027	52307027	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897900
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48593558	48593558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465086
Duplication	NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)	SMAD4	Pathogenic/Likely pathogenic	18	48593519	48593520	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684194
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_001114753.3(ENG):c.1134G>A (p.Ala378=)	ENG	Pathogenic/Likely pathogenic	9	130586583	130586583	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA467230561
single nucleotide variant	NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)	ENG	Pathogenic/Likely pathogenic	9	130582216	130582216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374978391