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.4615C>T (p.Arg1539Ter)	FBN1	Pathogenic	15	48760267	48760267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015241
single nucleotide variant	NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)	FBN1	Pathogenic/Likely pathogenic	15	48758022	48758022	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015420,OMIM:134797.0054
single nucleotide variant	NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48757770	48757770	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015476
single nucleotide variant	NM_000138.5(FBN1):c.493C>T (p.Arg165Ter)	FBN1	Pathogenic/Likely pathogenic	15	48888525	48888525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015483
single nucleotide variant	NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)	FBN1	Pathogenic/Likely pathogenic	15	48757765	48757765	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015500
single nucleotide variant	NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)	FBN1	Pathogenic	15	48756206	48756206	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015509
single nucleotide variant	NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)	FBN1	Likely pathogenic	15	48888521	48888521	C	G	criteria provided, single submitter	ClinGen:CA015519
single nucleotide variant	NM_000138.5(FBN1):c.5066-1G>C	FBN1	Pathogenic	15	48755438	48755438	C	G	criteria provided, single submitter	ClinGen:CA015592
single nucleotide variant	NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)	FBN1	Likely pathogenic	15	48752488	48752488	G	A	criteria provided, single submitter	ClinGen:CA015718
single nucleotide variant	NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)	FBN1	Likely pathogenic	15	48888489	48888489	A	G	criteria provided, single submitter	ClinGen:CA015756