遺伝性出血性末梢血管拡張症 (オスラー病)

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.(?_127815662)_(127820057_?)del	ENG	Pathogenic	9	130577941	130582336	na	na	criteria provided, single submitter	-
Duplication	NM_001114753.3(ENG):c.1394dup (p.Asn465fs)	ENG	Pathogenic	9	130581028	130581029	G	GT	criteria provided, single submitter	ClinGen:CA658797290
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
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
Deletion	NM_001114753.3(ENG):c.583del (p.Glu195fs)	ENG	Likely pathogenic	9	130588080	130588080	TC	T	criteria provided, single submitter	ClinGen:CA658797294
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.1583del (p.Pro528fs)	ENG	Pathogenic	9	130580502	130580502	CG	C	criteria provided, single submitter	ClinGen:CA658797288
Deletion	NM_001114753.3(ENG):c.408del (p.Glu137fs)	ENG	Likely pathogenic	9	130588904	130588904	CT	C	criteria provided, single submitter	ClinGen:CA658797296
Deletion	NM_001114753.3(ENG):c.896_991+90del	ENG	Likely pathogenic	9	130586989	130587174	GCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA	G	criteria provided, single submitter	ClinGen:CA658797291
Deletion	NM_001114753.3(ENG):c.469del (p.Thr157fs)	ENG	Pathogenic	9	130588843	130588843	GT	G	criteria provided, single submitter	ClinGen:CA658797295