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
Duplication	NM_005359.6(SMAD4):c.1242dup (p.Asp415fs)	SMAD4	Pathogenic	18	48593490	48593491	T	TA	criteria provided, single submitter	ClinGen:CA187376
Deletion	NM_005359.6(SMAD4):c.1242del (p.Asp415fs)	SMAD4	Pathogenic	18	48593491	48593491	TA	T	criteria provided, single submitter	ClinGen:CA259233
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.1239C>A (p.Tyr413Ter)	SMAD4	Pathogenic	18	48593488	48593488	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299967
Deletion	NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs)	SMAD4	Pathogenic	18	48593476	48593477	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658750
Duplication	NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter)	SMAD4	Pathogenic	18	48593453	48593454	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583707
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.1198del (p.Arg400fs)	SMAD4	Pathogenic	18	48593447	48593447	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615798
single nucleotide variant	NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)	SMAD4	Pathogenic	18	48593443	48593443	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer)	SMAD4	Pathogenic	18	48593415	48593416	TTG	T	criteria provided, single submitter	ClinGen:CA658658748