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.1326C>A (p.Cys442Ter)	ENG	Pathogenic	9	130581097	130581097	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374977872
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.1501G>T (p.Gly501Ter)	ENG	Pathogenic	9	130580584	130580584	C	A	criteria provided, single submitter	ClinGen:CA374975810
single nucleotide variant	NM_001114753.3(ENG):c.220-1G>A	ENG	Pathogenic	9	130592107	130592107	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374986465
single nucleotide variant	NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)	ENG	Pathogenic/Likely pathogenic	9	130616594	130616594	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989588
single nucleotide variant	NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	ENG	Pathogenic	9	130588801	130588801	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374984114
single nucleotide variant	NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)	ENG	Pathogenic	9	130587566	130587566	G	A	criteria provided, single submitter	ClinGen:CA374983319
Deletion	NM_001114753.3(ENG):c.765del (p.Tyr258fs)	ENG	Pathogenic	9	130587561	130587561	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509432
single nucleotide variant	NM_001114753.3(ENG):c.781T>G (p.Trp261Gly)	ENG	Likely pathogenic	9	130587545	130587545	A	C	criteria provided, single submitter	ClinGen:CA374983206
single nucleotide variant	NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	ENG	Pathogenic	9	130581906	130581906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374977979