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.991G>A (p.Gly331Ser)	ENG	Pathogenic/Likely pathogenic	9	130587079	130587079	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612528
single nucleotide variant	NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309990	52309990	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607366
single nucleotide variant	NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52306961	52306961	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607361
single nucleotide variant	NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)	ENG	Pathogenic/Likely pathogenic	9	130580620	130580620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606222
single nucleotide variant	NM_001114753.3(ENG):c.68-1G>A	ENG	Pathogenic/Likely pathogenic	9	130605525	130605525	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582616
Duplication	NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs)	SMAD4	Pathogenic/Likely pathogenic	18	48603038	48603039	A	ATGCAGCAGCAGGCGGCTACTGCACAAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580987
single nucleotide variant	NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48575103	48575103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580973
Deletion	NM_005359.6(SMAD4):c.1515del (p.Phe505fs)	SMAD4	Pathogenic/Likely pathogenic	18	48604690	48604690	GT	G	criteria provided, single submitter	ClinGen:CA349749
single nucleotide variant	NM_000020.3(ACVRL1):c.986G>A (p.Arg329His)	ACVRL1	Pathogenic/Likely pathogenic	12	52309222	52309222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321832
Deletion	NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	ACVRL1	Pathogenic/Likely pathogenic	12	52307433	52307436	CTGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321394