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_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG	Pathogenic	9	130592049	130592049	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588468
single nucleotide variant	NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)	ENG	Pathogenic	9	130592046	130592046	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.314T>A (p.Val105Asp)	ENG	Pathogenic	9	130592012	130592012	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)	ENG	Pathogenic	9	130591966	130591966	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257574,OMIM:131195.0009
single nucleotide variant	NM_001114753.3(ENG):c.360+1G>A	ENG	Pathogenic	9	130591965	130591965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588467,OMIM:131195.0005
single nucleotide variant	NM_001114753.3(ENG):c.360+4A>G	ENG	Likely pathogenic	9	130591962	130591962	T	C	criteria provided, multiple submitters, no conflicts	OMIM:131195.0004
single nucleotide variant	NM_001114753.3(ENG):c.360+5G>C	ENG	Pathogenic/Likely pathogenic	9	130591961	130591961	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612712
single nucleotide variant	NM_001114753.3(ENG):c.374T>A (p.Val125Asp)	ENG	Likely pathogenic	9	130588938	130588938	A	T	criteria provided, single submitter	ClinGen:CA374984418
Deletion	NM_001114753.3(ENG):c.392del (p.Pro131fs)	ENG	Pathogenic	9	130588920	130588920	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656043
Deletion	NM_001114753.3(ENG):c.397del (p.Val133fs)	ENG	Pathogenic	9	130588915	130588915	AC	A	criteria provided, single submitter	-