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_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	ACVRL1	Pathogenic	12	52309234	52309234	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322708,UniProtKB:P37023#VAR_006210
Deletion	NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs)	ACVRL1	Pathogenic	12	52309892	52309892	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320332
single nucleotide variant	NM_000020.3(ACVRL1):c.1377+1G>A	ACVRL1	Pathogenic	12	52312900	52312900	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322270
single nucleotide variant	NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)	ACVRL1	Pathogenic	12	52314580	52314580	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	ACVRL1	Pathogenic	12	52314616	52314616	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323134
single nucleotide variant	NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)	ACVRL1	Pathogenic	12	52309058	52309058	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6573002
single nucleotide variant	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1	Pathogenic	12	52314600	52314600	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042853
Duplication	NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs)	ACVRL1	Likely pathogenic	12	52314567	52314568	A	ATGCGGGAG	criteria provided, single submitter	ClinGen:CA16043812
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_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