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.1126A>G (p.Met376Val)	ACVRL1	Pathogenic/Likely pathogenic	12	52309897	52309897	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902445
single nucleotide variant	NM_000020.3(ACVRL1):c.1246+2T>C	ACVRL1	Pathogenic	12	52310019	52310019	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384903098
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.461C>G (p.Ser154Ter)	SMAD4	Pathogenic	18	48581157	48581157	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402460591
Deletion	NM_005359.6(SMAD4):c.1138del (p.Arg380fs)	SMAD4	Pathogenic	18	48591974	48591974	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658745
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.1228_1229del (p.Gln410fs)	SMAD4	Pathogenic	18	48593476	48593477	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658750
Deletion	NC_000018.10:g.(?_51065417)_(51067193_?)del	SMAD4	Pathogenic	18	48591787	48593563	na	na	criteria provided, single submitter	-
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.1349_1376del (p.Gln450fs)	SMAD4	Pathogenic	18	48603039	48603066	ATGCAGCAGCAGGCGGCTACTGCACAAGC	A	criteria provided, single submitter	ClinGen:CA645609184