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_001114753.3(ENG):c.1687-1G>T	ENG	Pathogenic	9	130579483	130579483	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374973822
single nucleotide variant	NM_001114753.3(ENG):c.782G>A (p.Trp261Ter)	ENG	Pathogenic	9	130587544	130587544	C	T	criteria provided, single submitter	ClinGen:CA374983201
single nucleotide variant	NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	ENG	Pathogenic/Likely pathogenic	9	130586583	130586583	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA467230561
single nucleotide variant	NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)	ENG	Pathogenic/Likely pathogenic	9	130582216	130582216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374978391
Deletion	NC_000009.12:g.(?_127843088)_(127843251_?)del	ENG	Pathogenic	9	130605367	130605530	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127819616)_(127820043_?)del	ENG	Pathogenic	9	130581895	130582322	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.690-1G>A	ENG	Pathogenic	9	130587637	130587637	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374983467
Duplication	NM_001114753.3(ENG):c.1111dup (p.Val371fs)	ENG	Pathogenic	9	130586605	130586606	A	AC	criteria provided, single submitter	ClinGen:CA658656031
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
Deletion	NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs)	ENG	Pathogenic	9	130580401	130580413	TGGTCTTGAGACCC	T	criteria provided, single submitter	ClinGen:CA658656039