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.98_101del (p.Gln33fs)	ENG	Pathogenic	9	130605491	130605494	AGGCT	A	criteria provided, single submitter	ClinGen:CA658656053
single nucleotide variant	NM_001114753.3(ENG):c.67+1G>A	ENG	Pathogenic	9	130616567	130616567	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989490,OMIM:131195.0008
single nucleotide variant	NM_005359.6(SMAD4):c.1140-1G>A	SMAD4	Pathogenic	18	48593388	48593388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402464705
single nucleotide variant	NM_001114753.3(ENG):c.1311G>C (p.Arg437=)	ENG	Pathogenic	9	130581901	130581901	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA467227927
Duplication	NM_001114753.3(ENG):c.1311+1dup	ENG	Pathogenic	9	130581899	130581900	A	AC	criteria provided, single submitter	ClinGen:CA658656049
Duplication	NM_001114753.3(ENG):c.1286dup (p.Leu430fs)	ENG	Pathogenic	9	130581925	130581926	G	GA	criteria provided, single submitter	ClinGen:CA658656051
single nucleotide variant	NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)	ENG	Likely pathogenic	9	130582231	130582231	C	T	criteria provided, single submitter	ClinGen:CA374978426
single nucleotide variant	NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	ENG	Pathogenic	9	130587518	130587518	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374983040
Deletion	NM_001114753.3(ENG):c.229del (p.Gln77fs)	ENG	Pathogenic	9	130592097	130592097	TG	T	criteria provided, single submitter	ClinGen:CA658656048
Duplication	NC_000009.11:g.(?_130586563)_(130592126_?)dup	ENG	Likely pathogenic	9	130586563	130592126	na	na	criteria provided, single submitter	-