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.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.2T>C (p.Met1Thr)	ENG	Pathogenic	9	130616633	130616633	A	G	criteria provided, single submitter	ClinGen:CA257569,OMIM:131195.0006
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.1273-2A>G	ENG	Pathogenic/Likely pathogenic	9	130581941	130581941	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA211924
single nucleotide variant	NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)	ENG	Likely pathogenic	9	130592067	130592067	G	A	criteria provided, single submitter	ClinGen:CA346329
single nucleotide variant	NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)	ENG	Pathogenic	9	130579454	130579454	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322673
single nucleotide variant	NM_001114753.3(ENG):c.1428+2T>C	ENG	Pathogenic	9	130580993	130580993	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA325022
single nucleotide variant	NM_001114753.3(ENG):c.1428+1G>A	ENG	Pathogenic/Likely pathogenic	9	130580994	130580994	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322731
single nucleotide variant	NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)	ENG	Pathogenic	9	130581111	130581111	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322837
single nucleotide variant	NM_001114753.3(ENG):c.1272+1G>A	ENG	Pathogenic	9	130582178	130582178	C	T	criteria provided, single submitter	ClinGen:CA320498