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.1333C>T (p.Arg445Ter)	SMAD4	Pathogenic	18	48603032	48603032	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA189448,OMIM:600993.0014
single nucleotide variant	NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter)	SMAD4	Pathogenic	18	48603023	48603023	C	T	criteria provided, single submitter	ClinGen:CA402465134
single nucleotide variant	NM_005359.6(SMAD4):c.1309-1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48603007	48603007	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465095
Deletion	NC_000018.10:g.(?_51065417)_(51067193_?)del	SMAD4	Pathogenic	18	48591787	48593563	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1308+2T>C	SMAD4	Pathogenic	18	48593559	48593559	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48593558	48593558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465086
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>T	SMAD4	Likely pathogenic	18	48593558	48593558	G	T	criteria provided, single submitter	ClinGen:CA164956
Duplication	NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)	SMAD4	Pathogenic/Likely pathogenic	18	48593519	48593520	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684194
Duplication	NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs)	SMAD4	Pathogenic	18	48593505	48593506	G	GGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA299973
Deletion	NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	SMAD4	Pathogenic	18	48593491	48593494	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259232,OMIM:600993.0005