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.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
single nucleotide variant	NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)	SMAD4	Pathogenic	18	48591918	48591918	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA128092
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_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
Duplication	NM_005359.6(SMAD4):c.1067dup (p.Ser357fs)	SMAD4	Pathogenic	18	48591901	48591902	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)	SMAD4	Pathogenic	18	48591896	48591896	C	G	criteria provided, single submitter	ClinGen:CA402464300
single nucleotide variant	NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	SMAD4	Pathogenic/Likely pathogenic	18	48591891	48591891	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128090,UniProtKB:Q13485#VAR_019571,UniProtKB/Swiss-Prot:VAR_019571,OMIM:600993.0011