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.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.931C>T (p.Gln311Ter)	SMAD4	Pathogenic	18	48586262	48586262	C	T	criteria provided, single submitter	ClinGen:CA10580984
Duplication	NM_005359.6(SMAD4):c.939dup (p.Ile314fs)	SMAD4	Pathogenic	18	48586267	48586268	T	TC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005359.6(SMAD4):c.955+1del	SMAD4	Likely pathogenic	18	48586286	48586286	TG	T	criteria provided, single submitter	ClinGen:CA658799061
single nucleotide variant	NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)	SMAD4	Likely pathogenic	18	48591826	48591826	A	G	criteria provided, single submitter	ClinGen:CA165407,UniProtKB:Q13485#VAR_022833,UniProtKB/Swiss-Prot:VAR_022833
Deletion	NM_005359.6(SMAD4):c.1023del (p.Pro342fs)	SMAD4	Pathogenic	18	48591859	48591859	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658744
Deletion	NM_005359.6(SMAD4):c.1037del (p.Pro346fs)	SMAD4	Pathogenic	18	48591872	48591872	GC	G	criteria provided, single submitter	ClinGen:CA259200
single nucleotide variant	NM_005359.6(SMAD4):c.1051G>C (p.Asp351His)	SMAD4	Likely pathogenic	18	48591888	48591888	G	C	criteria provided, single submitter	ClinGen:CA16602471
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
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