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_000020.3(ACVRL1):c.639T>G (p.Tyr213Ter)	ACVRL1	Pathogenic	12	52308236	52308236	T	G	criteria provided, single submitter	ClinGen:CA384899973
single nucleotide variant	NM_000020.3(ACVRL1):c.1048+2T>G	ACVRL1	Likely pathogenic	12	52309286	52309286	T	G	criteria provided, single submitter	ClinGen:CA384901886
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	Single allele	ENG	Pathogenic	9	130577648	130605372	na	na	criteria provided, single submitter	-
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	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.1306C>T (p.Gln436Ter)	ENG	Pathogenic	9	130581906	130581906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374977979
single nucleotide variant	NM_001114753.3(ENG):c.781T>G (p.Trp261Gly)	ENG	Likely pathogenic	9	130587545	130587545	A	C	criteria provided, single submitter	ClinGen:CA374983206
Deletion	NM_001114753.3(ENG):c.765del (p.Tyr258fs)	ENG	Pathogenic	9	130587561	130587561	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509432
single nucleotide variant	NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)	ENG	Pathogenic	9	130587566	130587566	G	A	criteria provided, single submitter	ClinGen:CA374983319