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
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
single nucleotide variant	NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter)	SMAD4	Pathogenic	18	48593411	48593411	C	T	criteria provided, single submitter	ClinGen:CA342589
single nucleotide variant	NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)	SMAD4	Likely pathogenic	18	48593397	48593397	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter)	SMAD4	Pathogenic	18	48593391	48593391	T	A	criteria provided, single submitter	ClinGen:CA339552
Deletion	NC_000018.10:g.(?_51067019)_(51085042_?)del	SMAD4	Pathogenic	18	48593389	48611412	na	na	criteria provided, single submitter	-