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
Deletion	NM_005359.6(SMAD4):c.1242del (p.Asp415fs)	SMAD4	Pathogenic	18	48593491	48593491	TA	T	criteria provided, single submitter	ClinGen:CA259233
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
Deletion	NM_005359.6(SMAD4):c.1037del (p.Pro346fs)	SMAD4	Pathogenic	18	48591872	48591872	GC	G	criteria provided, single submitter	ClinGen:CA259200
Insertion	NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)	SMAD4	Pathogenic	18	48584558	48584559	G	GCCGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA259188
Duplication	NM_005359.6(SMAD4):c.692dup (p.Ser232fs)	SMAD4	Pathogenic	18	48584513	48584514	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA259187,OMIM:600993.0007
single nucleotide variant	NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter)	SMAD4	Pathogenic	18	48581234	48581234	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)	SMAD4	Pathogenic	18	48575209	48575209	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259169
single nucleotide variant	NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter)	SMAD4	Pathogenic	18	48593411	48593411	C	T	criteria provided, single submitter	ClinGen:CA342589
single nucleotide variant	NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)	ENG	Pathogenic	9	130591966	130591966	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257574,OMIM:131195.0009