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	NC_000009.12:g.(?_127815012)_(127854773_?)del	ENG	Pathogenic	9	130577291	130617052	na	na	criteria provided, single submitter	-
Indel	NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)	ENG	Pathogenic	9	130586657	130586688	GCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG	CCACCAT	criteria provided, single submitter	ClinGen:CA16612700
single nucleotide variant	NM_001114753.3(ENG):c.360+5G>C	ENG	Pathogenic/Likely pathogenic	9	130591961	130591961	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612712
single nucleotide variant	NM_001114753.3(ENG):c.219G>A (p.Thr73=)	ENG	Pathogenic/Likely pathogenic	9	130605373	130605373	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5253209
single nucleotide variant	NM_001114753.3(ENG):c.1A>G (p.Met1Val)	ENG	Pathogenic	9	130616634	130616634	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612719
Deletion	NC_000012.12:g.(?_51920759)_(51923361_?)del	ACVRL1	Pathogenic	12	52314543	52317145	na	na	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.183del (p.Arg61fs)	ACVRL1	Pathogenic	12	52307003	52307003	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613747
Deletion	NM_000020.3(ACVRL1):c.525+1del	ACVRL1	Pathogenic	12	52307551	52307551	TG	T	criteria provided, single submitter	ClinGen:CA16613748
single nucleotide variant	NM_000020.3(ACVRL1):c.1378-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52314542	52314542	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613756
single nucleotide variant	NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter)	ACVRL1	Pathogenic	12	52309077	52309077	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613819