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.538C>T (p.Gln180Ter)	SMAD4	Pathogenic	18	48581234	48581234	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)	SMAD4	Pathogenic	18	48581281	48581281	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG	SMAD4	Pathogenic	18	48584494	48584516	AGGTCAGCCTGCCAGTATACTGGG	A	criteria provided, single submitter	ClinGen:CA16620702
Duplication	NM_005359.6(SMAD4):c.692dup (p.Ser232fs)	SMAD4	Pathogenic	18	48584513	48584514	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA259187,OMIM:600993.0007
Deletion	NM_005359.6(SMAD4):c.728_735del (p.Gly243fs)	SMAD4	Pathogenic	18	48584551	48584558	ATCAGGGCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616070
Insertion	NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)	SMAD4	Pathogenic	18	48584558	48584559	G	GCCGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA259188
Deletion	NM_005359.6(SMAD4):c.752del (p.Asn251fs)	SMAD4	Pathogenic	18	48584578	48584578	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658742
Deletion	NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)	SMAD4	Pathogenic	18	48584805	48584814	GCCGCCCCATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353499
Duplication	NM_005359.6(SMAD4):c.898_904+1dup	SMAD4	Pathogenic	18	48584819	48584820	A	ACATTACTG	criteria provided, single submitter	ClinGen:CA191750
single nucleotide variant	NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter)	SMAD4	Pathogenic	18	48584825	48584825	C	G	criteria provided, single submitter	ClinGen:CA16620705