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_001114753.3(ENG):c.259C>T (p.Gln87Ter)	ENG	Likely pathogenic	9	130592067	130592067	G	A	criteria provided, single submitter	ClinGen:CA346329
single nucleotide variant	NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter)	SMAD4	Pathogenic	18	48593488	48593488	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299967
Duplication	NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs)	SMAD4	Pathogenic	18	48593505	48593506	G	GGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA299973
Deletion	NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs)	SMAD4	Pathogenic	18	48603036	48603037	CAG	C	criteria provided, single submitter	ClinGen:CA299974
Duplication	NM_005359.6(SMAD4):c.153dup (p.Asp52fs)	SMAD4	Pathogenic	18	48573563	48573564	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA197041
Duplication	NM_005359.6(SMAD4):c.898_904+1dup	SMAD4	Pathogenic	18	48584819	48584820	A	ACATTACTG	criteria provided, single submitter	ClinGen:CA191750
Duplication	NM_005359.6(SMAD4):c.1242dup (p.Asp415fs)	SMAD4	Pathogenic	18	48593490	48593491	T	TA	criteria provided, single submitter	ClinGen:CA187376
Duplication	NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs)	SMAD4	Pathogenic	18	48603052	48603053	G	GGCTACTGCACAAGCTGCAGCAGCTGCCC	criteria provided, single submitter	ClinGen:CA334241
single nucleotide variant	NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)	ENG	Pathogenic	9	130579454	130579454	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA322673
single nucleotide variant	NM_001114753.3(ENG):c.1428+2T>C	ENG	Pathogenic	9	130580993	130580993	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA325022