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.905-1G>A	SMAD4	Likely pathogenic	18	48586235	48586235	G	A	criteria provided, single submitter	ClinGen:CA402463631
single nucleotide variant	NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter)	SMAD4	Pathogenic	18	48586236	48586236	G	A	criteria provided, single submitter	ClinGen:CA402463634
Deletion	NM_005359.6(SMAD4):c.1418del (p.Gly473fs)	SMAD4	Pathogenic	18	48603116	48603116	AG	A	criteria provided, single submitter	ClinGen:CA658658752
Deletion	NM_005359.6(SMAD4):c.903del (p.Trp302fs)	SMAD4	Pathogenic	18	48584825	48584825	AC	A	criteria provided, single submitter	ClinGen:CA658658743
Deletion	NM_005359.6(SMAD4):c.1023del (p.Pro342fs)	SMAD4	Pathogenic	18	48591859	48591859	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658744
Duplication	NM_005359.6(SMAD4):c.1201dup (p.Cys401fs)	SMAD4	Pathogenic	18	48593449	48593450	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658749
Deletion	NM_005359.6(SMAD4):c.275_276del (p.His92fs)	SMAD4	Pathogenic	18	48575081	48575082	CAT	C	criteria provided, single submitter	ClinGen:CA658658740
Deletion	NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer)	SMAD4	Pathogenic	18	48593488	48593490	ACTT	A	criteria provided, single submitter	ClinGen:CA658658751
single nucleotide variant	NM_005359.6(SMAD4):c.250-2A>G	SMAD4	Likely pathogenic	18	48575054	48575054	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458160
single nucleotide variant	NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)	SMAD4	Pathogenic	18	48591896	48591896	C	G	criteria provided, single submitter	ClinGen:CA402464300