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
Duplication	NM_001114753.3(ENG):c.1719dup (p.Ile574fs)	ENG	Pathogenic	9	130579449	130579450	T	TG	criteria provided, single submitter	ClinGen:CA658797273
Deletion	NM_001114753.3(ENG):c.583del (p.Glu195fs)	ENG	Likely pathogenic	9	130588080	130588080	TC	T	criteria provided, single submitter	ClinGen:CA658797294
single nucleotide variant	NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter)	ACVRL1	Pathogenic	12	52307468	52307468	C	T	criteria provided, single submitter	ClinGen:CA384898875
single nucleotide variant	NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	ACVRL1	Pathogenic	12	52307833	52307833	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384899825
single nucleotide variant	NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter)	ENG	Pathogenic	9	130581072	130581072	G	A	criteria provided, single submitter	ClinGen:CA374977575
single nucleotide variant	NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)	ENG	Pathogenic	9	130587980	130587980	G	T	criteria provided, single submitter	ClinGen:CA374983489
Duplication	NM_001114753.3(ENG):c.1394dup (p.Asn465fs)	ENG	Pathogenic	9	130581028	130581029	G	GT	criteria provided, single submitter	ClinGen:CA658797290
Deletion	NC_000009.12:g.(?_127815662)_(127820057_?)del	ENG	Pathogenic	9	130577941	130582336	na	na	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.224del (p.Pro75fs)	ENG	Pathogenic	9	130592102	130592102	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797297
Indel	NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs)	ENG	Pathogenic	9	130581006	130581008	TCT	AC	criteria provided, single submitter	ClinGen:CA658797289