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_005359.6(SMAD4):c.533C>G (p.Ser178Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48581229	48581229	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259180
single nucleotide variant	NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	ACVRL1	Pathogenic/Likely pathogenic	12	52308229	52308229	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119406,UniProtKB:P37023#VAR_026788,OMIM:601284.0011
single nucleotide variant	NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52310002	52310002	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119402,UniProtKB:P37023#VAR_026809,OMIM:601284.0009
Deletion	NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)	ACVRL1	Pathogenic/Likely pathogenic	12	52308355	52308357	CACG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119399,OMIM:601284.0008
single nucleotide variant	NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52309891	52309891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119397,UniProtKB:P37023#VAR_006211,OMIM:601284.0007
single nucleotide variant	NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52310003	52310003	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119395,UniProtKB:P37023#VAR_006213,OMIM:601284.0001
Deletion	NC_000012.12:g.(?_51920691)_(51920903_?)del	ACVRL1	Pathogenic	12	52314475	52314687	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.625+2T>C	ACVRL1	Pathogenic	12	52307859	52307859	T	C	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51912465)_(51920903_?)del	ACVRL1	Pathogenic	12	52306249	52314687	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.991+2T>G	ENG	Pathogenic	9	130587077	130587077	A	C	criteria provided, single submitter	-