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_005359.6(SMAD4):c.1529G>T (p.Gly510Val)	SMAD4	Likely pathogenic	18	48604707	48604707	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1139+1G>A	SMAD4	Likely pathogenic	18	48591977	48591977	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1091T>G (p.Leu364Trp)	SMAD4	Likely pathogenic	18	48591928	48591928	T	G	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del)	SMAD4	Likely pathogenic	18	48591923	48591925	TTTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)	SMAD4	Likely pathogenic	18	48591826	48591826	A	G	criteria provided, single submitter	ClinGen:CA165407,UniProtKB:Q13485#VAR_022833,UniProtKB/Swiss-Prot:VAR_022833
single nucleotide variant	NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser)	SMAD4	Likely pathogenic	18	48591918	48591918	C	A	criteria provided, single submitter	ClinGen:CA259197
single nucleotide variant	NM_001114753.3(ENG):c.360+4A>G	ENG	Likely pathogenic	9	130591962	130591962	T	C	criteria provided, multiple submitters, no conflicts	OMIM:131195.0004
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