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	NC_000018.10:g.(?_51065417)_(51067193_?)del	SMAD4	Pathogenic	18	48591787	48593563	na	na	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.955+1del	SMAD4	Likely pathogenic	18	48586286	48586286	TG	T	criteria provided, single submitter	ClinGen:CA658799061
Duplication	NM_005359.6(SMAD4):c.939dup (p.Ile314fs)	SMAD4	Pathogenic	18	48586267	48586268	T	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter)	SMAD4	Pathogenic	18	48586262	48586262	C	T	criteria provided, single submitter	ClinGen:CA10580984
single nucleotide variant	NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter)	SMAD4	Pathogenic	18	48586237	48586237	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583704
single nucleotide variant	NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter)	SMAD4	Pathogenic	18	48586236	48586236	G	A	criteria provided, single submitter	ClinGen:CA402463634
single nucleotide variant	NM_005359.6(SMAD4):c.905-1G>A	SMAD4	Likely pathogenic	18	48586235	48586235	G	A	criteria provided, single submitter	ClinGen:CA402463631
Deletion	NM_005359.6(SMAD4):c.903del (p.Trp302fs)	SMAD4	Pathogenic	18	48584825	48584825	AC	A	criteria provided, single submitter	ClinGen:CA658658743
single nucleotide variant	NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter)	SMAD4	Pathogenic	18	48584825	48584825	C	G	criteria provided, single submitter	ClinGen:CA16620705
Duplication	NM_005359.6(SMAD4):c.898_904+1dup	SMAD4	Pathogenic	18	48584819	48584820	A	ACATTACTG	criteria provided, single submitter	ClinGen:CA191750