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.1498A>G (p.Ile500Val)	SMAD4	Pathogenic	18	48604676	48604676	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA128979,UniProtKB:Q13485#VAR_067604,UniProtKB/Swiss-Prot:VAR_067604,OMIM:600993.0016
single nucleotide variant	NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)	SMAD4	Likely pathogenic	18	48604673	48604673	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615805
single nucleotide variant	NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4	Pathogenic/Likely pathogenic	18	48604664	48604664	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA145285
single nucleotide variant	NM_005359.6(SMAD4):c.1447+2T>C	SMAD4	Likely pathogenic	18	48603148	48603148	T	C	criteria provided, single submitter	ClinGen:CA16616086
Deletion	NM_005359.6(SMAD4):c.1418del (p.Gly473fs)	SMAD4	Pathogenic	18	48603116	48603116	AG	A	criteria provided, single submitter	ClinGen:CA658658752
Deletion	NM_005359.6(SMAD4):c.1409del (p.Pro470fs)	SMAD4	Pathogenic	18	48603106	48603106	TC	T	criteria provided, single submitter	ClinGen:CA658799053
Duplication	NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs)	SMAD4	Pathogenic	18	48603104	48603105	A	ATCCC	criteria provided, single submitter	ClinGen:CA658799052
single nucleotide variant	NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter)	SMAD4	Pathogenic	18	48603062	48603062	C	T	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs)	SMAD4	Pathogenic	18	48603060	48603063	GCACA	G	criteria provided, single submitter	ClinGen:CA259239
Duplication	NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs)	SMAD4	Pathogenic	18	48603052	48603053	G	GGCTACTGCACAAGCTGCAGCAGCTGCCC	criteria provided, single submitter	ClinGen:CA334241