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.229del (p.Gln77fs)	ENG	Pathogenic	9	130592097	130592097	TG	T	criteria provided, single submitter	ClinGen:CA658656048
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.247C>T (p.Gln83Ter)	ENG	Pathogenic	9	130592079	130592079	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322606
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.277C>T (p.Arg93Ter)	ENG	Pathogenic	9	130592049	130592049	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588468
single nucleotide variant	NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)	ENG	Pathogenic	9	130592046	130592046	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.314T>A (p.Val105Asp)	ENG	Pathogenic	9	130592012	130592012	A	T	criteria provided, single submitter	-
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.360+1G>A	ENG	Pathogenic	9	130591965	130591965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588467,OMIM:131195.0005
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