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	NM_001114753.3(ENG):c.1541del (p.Gly514fs)	ENG	Pathogenic	9	130580544	130580544	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509431
single nucleotide variant	NM_001114753.3(ENG):c.1686+1G>A	ENG	Pathogenic	9	130580398	130580398	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374973969
Deletion	Single allele	ENG	Pathogenic	9	130577648	130605372	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	ENG	Pathogenic/Likely pathogenic	9	130588001	130588001	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374983528
Deletion	NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)	ENG	Pathogenic	9	130586632	130586633	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372488
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
single nucleotide variant	NM_001114753.3(ENG):c.526C>T (p.Gln176Ter)	ENG	Pathogenic	9	130588137	130588137	G	A	criteria provided, single submitter	ClinGen:CA374983805
Deletion	NM_001114753.3(ENG):c.1195del (p.Arg399fs)	ENG	Pathogenic	9	130582256	130582256	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369414
Deletion	NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)	ENG	Pathogenic/Likely pathogenic	9	130582255	130582256	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369413
Deletion	NM_001114753.3(ENG):c.1334del (p.Met445fs)	ENG	Pathogenic	9	130581089	130581089	CA	C	criteria provided, single submitter	ClinGen:CA645293878