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
Deletion	NC_000009.12:g.(?_127829681)_(127829833_?)del	ENG	Pathogenic	9	130591960	130592112	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1428+2T>A	ENG	Pathogenic	9	130580993	130580993	A	T	criteria provided, single submitter	ClinGen:CA374976461
Duplication	NM_001114753.3(ENG):c.904dup (p.Glu302fs)	ENG	Pathogenic	9	130587165	130587166	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656033
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.244del (p.Leu82fs)	ENG	Pathogenic	9	130592082	130592082	AG	A	criteria provided, single submitter	ClinGen:CA658656047
single nucleotide variant	NM_001114753.3(ENG):c.219+1G>A	ENG	Pathogenic	9	130605372	130605372	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374988833
single nucleotide variant	NM_001114753.3(ENG):c.2T>G (p.Met1Arg)	ENG	Pathogenic	9	130616633	130616633	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989708
Deletion	NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs)	ENG	Pathogenic	9	130580401	130580413	TGGTCTTGAGACCC	T	criteria provided, single submitter	ClinGen:CA658656039
single nucleotide variant	NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)	ENG	Pathogenic/Likely pathogenic	9	130580616	130580616	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5252752
Duplication	NM_001114753.3(ENG):c.1111dup (p.Val371fs)	ENG	Pathogenic	9	130586605	130586606	A	AC	criteria provided, single submitter	ClinGen:CA658656031