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.511C>T (p.Arg171Ter)	ENG	Pathogenic	9	130588801	130588801	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374984114
single nucleotide variant	NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	ENG	Pathogenic/Likely pathogenic	9	130588789	130588789	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.524-2A>G	ENG	Pathogenic	9	130588141	130588141	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612599
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
single nucleotide variant	NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)	ENG	Pathogenic	9	130588101	130588101	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324406
Duplication	NM_001114753.3(ENG):c.562dup (p.Gln188fs)	ENG	Pathogenic	9	130588100	130588101	T	TG	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.572del (p.Gly191fs)	ENG	Pathogenic	9	130588091	130588091	GC	G	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.574_580del (p.Arg192fs)	ENG	Pathogenic	9	130588083	130588089	AGCGTGCG	A	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.583del (p.Glu195fs)	ENG	Likely pathogenic	9	130588080	130588080	TC	T	criteria provided, single submitter	ClinGen:CA658797294
single nucleotide variant	NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)	ENG	Pathogenic	9	130588076	130588076	C	T	criteria provided, multiple submitters, no conflicts	-