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
Indel	NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter)	ENG	Pathogenic	9	130587086	130587087	GG	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)	ENG	Pathogenic	9	130587511	130587511	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.753_781del (p.Ile252fs)	ENG	Pathogenic	9	130587545	130587573	CAGGACACGTAGGGGGGACCCTGCAGGATG	C	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.776del (p.Val259fs)	ENG	Pathogenic	9	130587550	130587550	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.771del (p.Tyr258fs)	ENG	Pathogenic	9	130587555	130587555	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.743del (p.Asp248fs)	ENG	Pathogenic	9	130587583	130587583	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)	ENG	Pathogenic/Likely pathogenic	9	130588004	130588004	A	G	criteria provided, multiple submitters, no conflicts	-
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	-
Duplication	NM_001114753.3(ENG):c.562dup (p.Gln188fs)	ENG	Pathogenic	9	130588100	130588101	T	TG	criteria provided, single submitter	-
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	-