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.581_592del (p.Leu194_Arg197del)	ENG	Likely pathogenic	9	130588071	130588082	GGCCGCCACTCGA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)	ENG	Pathogenic	9	130588042	130588042	G	T	criteria provided, single submitter	-
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.662T>C (p.Leu221Pro)	ENG	Pathogenic/Likely pathogenic	9	130588001	130588001	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374983528
single nucleotide variant	NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)	ENG	Pathogenic	9	130587980	130587980	G	T	criteria provided, single submitter	ClinGen:CA374983489
single nucleotide variant	NM_001114753.3(ENG):c.689+1G>A	ENG	Pathogenic	9	130587973	130587973	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.689+2T>C	ENG	Pathogenic	9	130587972	130587972	A	G	criteria provided, single submitter	ClinGen:CA324588
single nucleotide variant	NM_001114753.3(ENG):c.690-2A>T	ENG	Pathogenic	9	130587638	130587638	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.690-1G>A	ENG	Pathogenic	9	130587637	130587637	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374983467
Deletion	NM_001114753.3(ENG):c.712del (p.Val238fs)	ENG	Pathogenic	9	130587614	130587614	AC	A	criteria provided, single submitter	ClinGen:CA10603150