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.1501G>T (p.Gly501Ter)	ENG	Pathogenic	9	130580584	130580584	C	A	criteria provided, single submitter	ClinGen:CA374975810
Duplication	NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	ACVRL1	Pathogenic	12	52306920	52306921	C	CT	criteria provided, single submitter	ClinGen:CA658653654
single nucleotide variant	NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)	ACVRL1	Pathogenic/Likely pathogenic	12	52308369	52308369	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900266
single nucleotide variant	NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)	ACVRL1	Pathogenic	12	52309975	52309975	G	A	criteria provided, single submitter	ClinGen:CA384902923
Duplication	NM_001114753.3(ENG):c.1525_1615dup (p.Val539delinsGlyProGlyGlyGlnGlyGlnLeuCysGluProAlaValProLysProArgGlyTer)	ENG	Pathogenic	9	130580469	130580470	A	ACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCC	criteria provided, single submitter	ClinGen:CA658656041
single nucleotide variant	NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)	ENG	Pathogenic	9	130581097	130581097	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374977872
single nucleotide variant	NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)	ENG	Pathogenic	9	130581920	130581920	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374978051
Deletion	NM_001114753.3(ENG):c.736del (p.Asp246fs)	ENG	Pathogenic	9	130587590	130587590	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656035
Duplication	NM_001114753.3(ENG):c.732dup (p.Gly245fs)	ENG	Pathogenic	9	130587593	130587594	C	CG	criteria provided, single submitter	ClinGen:CA658656036
single nucleotide variant	NM_001114753.3(ENG):c.219+5G>C	ENG	Pathogenic/Likely pathogenic	9	130605368	130605368	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656052