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.1327del (p.Leu443fs)	ENG	Pathogenic	9	130581096	130581096	AG	A	criteria provided, single submitter	ClinGen:CA16612404
single nucleotide variant	NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)	ENG	Pathogenic	9	130580439	130580439	C	T	criteria provided, single submitter	ClinGen:CA500023
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.1465C>T (p.Gln489Ter)	ENG	Pathogenic/Likely pathogenic	9	130580620	130580620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606222
Deletion	NM_001114753.3(ENG):c.880_881del (p.Asp294fs)	ENG	Pathogenic	9	130587189	130587190	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604865
Deletion	NM_001114753.3(ENG):c.712del (p.Val238fs)	ENG	Pathogenic	9	130587614	130587614	AC	A	criteria provided, single submitter	ClinGen:CA10603150
single nucleotide variant	NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)	ENG	Pathogenic	9	130587510	130587510	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603083
Deletion	NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs)	ENG	Pathogenic	9	130580530	130580531	AGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603021
single nucleotide variant	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG	Pathogenic	9	130592049	130592049	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588468
single nucleotide variant	NM_001114753.3(ENG):c.360+1G>A	ENG	Pathogenic	9	130591965	130591965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588467,OMIM:131195.0005