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.2T>C (p.Met1Thr)	ENG	Pathogenic	9	130616633	130616633	A	G	criteria provided, single submitter	ClinGen:CA257569,OMIM:131195.0006
single nucleotide variant	NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	SMAD4	Pathogenic	18	48591918	48591918	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA128095,UniProtKB:Q13485#VAR_019572,UniProtKB/Swiss-Prot:VAR_019572,OMIM:600993.0008
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.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.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.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.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_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)	SMAD4	Likely pathogenic	18	48593397	48593397	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)	ACVRL1	Likely pathogenic	12	52309961	52309961	A	T	criteria provided, single submitter	-
Indel	NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)	ACVRL1	Likely pathogenic	12	52309959	52309960	TG	AA	criteria provided, single submitter	-