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.1140-1G>A	SMAD4	Pathogenic	18	48593388	48593388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402464705
single nucleotide variant	NM_005359.6(SMAD4):c.1140-2A>C	SMAD4	Likely pathogenic	18	48593387	48593387	A	C	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.1139G>A (p.Arg380Lys)	SMAD4	Pathogenic/Likely pathogenic	18	48591976	48591976	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA259219
Deletion	NM_005359.6(SMAD4):c.1138del (p.Arg380fs)	SMAD4	Pathogenic	18	48591974	48591974	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658745
single nucleotide variant	NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)	SMAD4	Pathogenic	18	48591933	48591933	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616081
single nucleotide variant	NM_005359.6(SMAD4):c.1091T>G (p.Leu364Trp)	SMAD4	Likely pathogenic	18	48591928	48591928	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr)	SMAD4	Likely pathogenic	18	48591925	48591925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580985
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.1082G>A (p.Arg361His)	SMAD4	Pathogenic	18	48591919	48591919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128097,UniProtKB:Q13485#VAR_036477