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	NM_000020.3(ACVRL1):c.105del (p.Cys36fs)	ACVRL1	Pathogenic	12	52306926	52306926	CG	C	criteria provided, single submitter	ClinGen:CA658683789
Duplication	NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)	SMAD4	Pathogenic/Likely pathogenic	18	48593519	48593520	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684194
single nucleotide variant	NM_001114753.3(ENG):c.1687-1G>T	ENG	Pathogenic	9	130579483	130579483	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374973822
Deletion	NM_001114753.3(ENG):c.469del (p.Thr157fs)	ENG	Pathogenic	9	130588843	130588843	GT	G	criteria provided, single submitter	ClinGen:CA658797295
Insertion	NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797915
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.408del (p.Glu137fs)	ENG	Likely pathogenic	9	130588904	130588904	CT	C	criteria provided, single submitter	ClinGen:CA658797296
single nucleotide variant	NM_005359.6(SMAD4):c.250-1G>C	SMAD4	Likely pathogenic	18	48575055	48575055	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458163
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48593558	48593558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465086
Deletion	NM_001114753.3(ENG):c.1583del (p.Pro528fs)	ENG	Pathogenic	9	130580502	130580502	CG	C	criteria provided, single submitter	ClinGen:CA658797288