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	NC_000009.12:g.(?_127815012)_(127854773_?)del	ENG	Pathogenic	9	130577291	130617052	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.-127C>T	ENG	Pathogenic/Likely pathogenic	9	130616761	130616761	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612603
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
Duplication	NM_001114753.3(ENG):c.715dup (p.Glu239fs)	ENG	Pathogenic	9	130587610	130587611	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612595
Deletion	NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs)	ENG	Pathogenic	9	130580999	130581008	CACAAAGCTCT	C	criteria provided, single submitter	ClinGen:CA16612592
Deletion	NC_000009.12:g.(?_127843094)_(127843245_?)del	ENG	Pathogenic	9	130605373	130605524	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127819622)_(127820037_?)del	ENG	Pathogenic	9	130581901	130582316	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	ENG	Pathogenic/Likely pathogenic	9	130587079	130587079	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612528
single nucleotide variant	NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)	ENG	Pathogenic	9	130587166	130587166	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612407
Deletion	NM_001114753.3(ENG):c.1199del (p.Gly400fs)	ENG	Pathogenic	9	130582252	130582252	AC	A	criteria provided, single submitter	ClinGen:CA16612406