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.(?_127824284)_(127829847_?)del	ENG	Likely pathogenic	9	130586563	130592126	na	na	criteria provided, single submitter	-
Duplication	NC_000009.11:g.(?_130586563)_(130592126_?)dup	ENG	Likely pathogenic	9	130586563	130592126	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127829681)_(127829833_?)del	ENG	Pathogenic	9	130591960	130592112	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	-
Deletion	NM_001114753.3(ENG):c.229del (p.Gln77fs)	ENG	Pathogenic	9	130592097	130592097	TG	T	criteria provided, single submitter	ClinGen:CA658656048
Deletion	NM_001114753.3(ENG):c.244del (p.Leu82fs)	ENG	Pathogenic	9	130592082	130592082	AG	A	criteria provided, single submitter	ClinGen:CA658656047
single nucleotide variant	NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)	ENG	Pathogenic	9	130592079	130592079	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322606
single nucleotide variant	NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)	ENG	Likely pathogenic	9	130592067	130592067	G	A	criteria provided, single submitter	ClinGen:CA346329