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	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
single nucleotide variant	NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320646
single nucleotide variant	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52307021	52307021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325011,UniProtKB:P37023#VAR_006206
single nucleotide variant	NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)	ACVRL1	Pathogenic	12	52306973	52306973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324720,UniProtKB:P37023#VAR_006205
Duplication	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA319771
single nucleotide variant	NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)	ACVRL1	Likely pathogenic	12	52309928	52309928	G	A	criteria provided, single submitter	ClinGen:CA211329
single nucleotide variant	NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52306964	52306964	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270765,OMIM:601284.0005
single nucleotide variant	NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro)	ACVRL1	Pathogenic	12	52310003	52310003	G	C	criteria provided, single submitter	ClinGen:CA119413,UniProtKB:P37023#VAR_026808,OMIM:601284.0015
single nucleotide variant	NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)	ACVRL1	Likely pathogenic	12	52309967	52309967	G	C	criteria provided, single submitter	ClinGen:CA119410,UniProtKB:P37023#VAR_026806,OMIM:601284.0013
single nucleotide variant	NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)	ACVRL1	Pathogenic	12	52309267	52309267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119408,UniProtKB:P37023#VAR_026798,OMIM:601284.0012