マルファン症候群

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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_000138.5(FBN1):c.1537T>C (p.Cys513Arg)	FBN1	Likely pathogenic	15	48805797	48805797	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1532A>G (p.Tyr511Cys)	FBN1	Pathogenic	15	48805802	48805802	T	C	criteria provided, single submitter	ClinGen:CA392342427
single nucleotide variant	NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)	FBN1	Likely pathogenic	15	48805809	48805809	C	A	criteria provided, single submitter	ClinGen:CA16614676
single nucleotide variant	NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter)	FBN1	Pathogenic/Likely pathogenic	15	48805812	48805812	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606736
single nucleotide variant	NM_000138.5(FBN1):c.1512T>A (p.Cys504Ter)	FBN1	Pathogenic	15	48805822	48805822	A	T	criteria provided, single submitter	ClinGen:CA392342603
single nucleotide variant	NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser)	FBN1	Likely pathogenic	15	48805823	48805823	C	G	criteria provided, single submitter	ClinGen:CA392342609
single nucleotide variant	NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr)	FBN1	Pathogenic	15	48805823	48805823	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg)	FBN1	Pathogenic/Likely pathogenic	15	48805824	48805824	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser)	FBN1	Pathogenic	15	48805824	48805824	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)	FBN1	Pathogenic	15	48805838	48805838	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012213