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.1220G>A (p.Ser407Asn)	ENG	Likely pathogenic	9	130582231	130582231	C	T	criteria provided, single submitter	ClinGen:CA374978426
Duplication	NM_001114753.3(ENG):c.1286dup (p.Leu430fs)	ENG	Pathogenic	9	130581925	130581926	G	GA	criteria provided, single submitter	ClinGen:CA658656051
Duplication	NM_001114753.3(ENG):c.1311+1dup	ENG	Pathogenic	9	130581899	130581900	A	AC	criteria provided, single submitter	ClinGen:CA658656049
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
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
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.219+5G>C	ENG	Pathogenic/Likely pathogenic	9	130605368	130605368	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656052
Duplication	NM_001114753.3(ENG):c.732dup (p.Gly245fs)	ENG	Pathogenic	9	130587593	130587594	C	CG	criteria provided, single submitter	ClinGen:CA658656036
Deletion	NM_001114753.3(ENG):c.736del (p.Asp246fs)	ENG	Pathogenic	9	130587590	130587590	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656035
single nucleotide variant	NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)	ENG	Pathogenic	9	130581920	130581920	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374978051