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
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
Deletion	NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer)	SMAD4	Pathogenic	18	48593415	48593416	TTG	T	criteria provided, single submitter	ClinGen:CA658658748
Deletion	NM_005359.6(SMAD4):c.1138del (p.Arg380fs)	SMAD4	Pathogenic	18	48591974	48591974	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658745
single nucleotide variant	NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)	SMAD4	Pathogenic	18	48581157	48581157	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402460591
Deletion	NC_000018.9:g.(?_48573411)_(48604843_?)del	SMAD4	Pathogenic	18	48573411	48604843	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1140-1G>A	SMAD4	Pathogenic	18	48593388	48593388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402464705
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
Deletion	NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG	SMAD4	Pathogenic	18	48584494	48584516	AGGTCAGCCTGCCAGTATACTGGG	A	criteria provided, single submitter	ClinGen:CA16620702
single nucleotide variant	NM_005359.6(SMAD4):c.1447+2T>C	SMAD4	Likely pathogenic	18	48603148	48603148	T	C	criteria provided, single submitter	ClinGen:CA16616086
single nucleotide variant	NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)	SMAD4	Pathogenic	18	48591933	48591933	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616081