遺伝性出血性末梢血管拡張症 (オスラー病)

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1345C>T (p.Gln449Ter)	SMAD4	Pathogenic	18	48603044	48603044	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA163884
Deletion	NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)	SMAD4	Pathogenic/Likely pathogenic	18	48603043	48603067	AGCAGCAGGCGGCTACTGCACAAGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168695
Deletion	NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs)	SMAD4	Pathogenic	18	48603040	48603064	TGCAGCAGCAGGCGGCTACTGCACAA	T	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs)	SMAD4	Pathogenic	18	48603039	48603066	ATGCAGCAGCAGGCGGCTACTGCACAAGC	A	criteria provided, single submitter	ClinGen:CA645609184
Duplication	NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs)	SMAD4	Pathogenic/Likely pathogenic	18	48603038	48603039	A	ATGCAGCAGCAGGCGGCTACTGCACAAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580987
Deletion	NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs)	SMAD4	Pathogenic	18	48603036	48603037	CAG	C	criteria provided, single submitter	ClinGen:CA299974
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.(?_51076628)_(51078477_?)del	SMAD4	Pathogenic	18	48602998	48604847	na	na	criteria provided, single submitter	-