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.1598T>C (p.Leu533Pro)	SMAD4	Likely pathogenic	18	48604776	48604776	T	C	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.1587dup (p.His530fs)	SMAD4	Pathogenic	18	48604764	48604765	T	TA	criteria provided, single submitter	ClinGen:CA259264
Duplication	NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs)	SMAD4	Pathogenic	18	48604762	48604763	C	CTT	criteria provided, single submitter	ClinGen:CA10580992
single nucleotide variant	NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter)	SMAD4	Pathogenic	18	48604750	48604750	G	A	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.1547dup (p.Ser517fs)	SMAD4	Pathogenic	18	48604724	48604725	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA270878
single nucleotide variant	NM_005359.6(SMAD4):c.1529G>T (p.Gly510Val)	SMAD4	Likely pathogenic	18	48604707	48604707	G	T	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.1529del (p.Gly510fs)	SMAD4	Pathogenic	18	48604704	48604704	TG	T	criteria provided, single submitter	ClinGen:CA16615816
single nucleotide variant	NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)	SMAD4	Likely pathogenic	18	48604701	48604701	G	A	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.1515del (p.Phe505fs)	SMAD4	Pathogenic/Likely pathogenic	18	48604690	48604690	GT	G	criteria provided, single submitter	ClinGen:CA349749
single nucleotide variant	NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	SMAD4	Pathogenic	18	48604677	48604677	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA128977,UniProtKB:Q13485#VAR_067603,UniProtKB/Swiss-Prot:VAR_067603,OMIM:600993.0015