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_000020.3(ACVRL1):c.1377+2T>G	ACVRL1	Pathogenic	12	52312901	52312901	T	G	criteria provided, single submitter	ClinGen:CA384904889
Duplication	NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter)	ACVRL1	Pathogenic	12	52309043	52309044	G	GAGCACGCAGCTGT	criteria provided, single submitter	ClinGen:CA658797917
single nucleotide variant	NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter)	ACVRL1	Pathogenic	12	52309918	52309918	G	T	criteria provided, single submitter	ClinGen:CA384902589
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_005359.6(SMAD4):c.1324C>T (p.Gln442Ter)	SMAD4	Pathogenic	18	48603023	48603023	C	T	criteria provided, single submitter	ClinGen:CA402465134
Duplication	NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs)	SMAD4	Pathogenic	18	48603104	48603105	A	ATCCC	criteria provided, single submitter	ClinGen:CA658799052
Deletion	NM_005359.6(SMAD4):c.1409del (p.Pro470fs)	SMAD4	Pathogenic	18	48603106	48603106	TC	T	criteria provided, single submitter	ClinGen:CA658799053
single nucleotide variant	NM_005359.6(SMAD4):c.454+2T>C	SMAD4	Likely pathogenic	18	48575696	48575696	T	C	criteria provided, single submitter	ClinGen:CA402459644
Deletion	NM_005359.6(SMAD4):c.955+1del	SMAD4	Likely pathogenic	18	48586286	48586286	TG	T	criteria provided, single submitter	ClinGen:CA658799061
Duplication	NM_001114753.3(ENG):c.920dup (p.Asn307fs)	ENG	Pathogenic	9	130587149	130587150	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797292