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.1232G>A (p.Arg411Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52310003	52310003	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119395,UniProtKB:P37023#VAR_006213,OMIM:601284.0001
single nucleotide variant	NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg)	ACVRL1	Pathogenic	12	52309898	52309898	T	G	criteria provided, single submitter	ClinGen:CA254367,UniProtKB:P37023#VAR_006212,OMIM:601284.0002
single nucleotide variant	NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)	ACVRL1	Pathogenic	12	52306971	52306971	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254373,UniProtKB:P37023#VAR_006204,OMIM:601284.0004
single nucleotide variant	NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52309891	52309891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119397,UniProtKB:P37023#VAR_006211,OMIM:601284.0007
Deletion	NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)	ACVRL1	Pathogenic/Likely pathogenic	12	52308355	52308357	CACG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119399,OMIM:601284.0008
single nucleotide variant	NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52310002	52310002	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119402,UniProtKB:P37023#VAR_026809,OMIM:601284.0009
single nucleotide variant	NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)	ACVRL1	Pathogenic	12	52314615	52314615	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119404,UniProtKB:P37023#VAR_026815,OMIM:601284.0010
single nucleotide variant	NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	ACVRL1	Pathogenic/Likely pathogenic	12	52308229	52308229	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119406,UniProtKB:P37023#VAR_026788,OMIM:601284.0011
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
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