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.166C>T (p.Gln56Ter)	ENG	Pathogenic	9	130605426	130605426	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.219G>A (p.Thr73=)	ENG	Pathogenic/Likely pathogenic	9	130605373	130605373	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5253209
Deletion	NC_000009.12:g.(?_127843094)_(127843245_?)del	ENG	Pathogenic	9	130605373	130605524	na	na	criteria provided, single submitter	-
Duplication	NC_000009.11:g.(?_130605373)_(130605524_?)dup	ENG	Likely pathogenic	9	130605373	130605524	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.219+1G>A	ENG	Pathogenic	9	130605372	130605372	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374988833
single nucleotide variant	NM_001114753.3(ENG):c.219+5G>C	ENG	Pathogenic/Likely pathogenic	9	130605368	130605368	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656052
Deletion	NC_000009.12:g.(?_127843088)_(127843251_?)del	ENG	Pathogenic	9	130605367	130605530	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.220-1G>A	ENG	Pathogenic	9	130592107	130592107	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374986465
Deletion	NM_001114753.3(ENG):c.224del (p.Pro75fs)	ENG	Pathogenic	9	130592102	130592102	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797297
single nucleotide variant	NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)	ENG	Pathogenic	9	130592097	130592097	G	A	criteria provided, multiple submitters, no conflicts	-