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
Duplication	NM_000138.5(FBN1):c.4429dup (p.Glu1477fs)	FBN1	Pathogenic	15	48762860	48762861	T	TC	criteria provided, single submitter	ClinGen:CA304348
single nucleotide variant	NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)	FBN1	Likely pathogenic	15	48760671	48760671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015156
single nucleotide variant	NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)	FBN1	Pathogenic	15	48760261	48760261	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015252
single nucleotide variant	NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter)	FBN1	Pathogenic	15	48757819	48757819	G	A	criteria provided, single submitter	ClinGen:CA015448
single nucleotide variant	NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)	FBN1	Pathogenic/Likely pathogenic	15	48757777	48757777	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015467
single nucleotide variant	NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48756146	48756146	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015547
single nucleotide variant	NM_000138.5(FBN1):c.5021G>T (p.Cys1674Phe)	FBN1	Pathogenic	15	48756140	48756140	C	A	criteria provided, single submitter	ClinGen:CA015558
single nucleotide variant	NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter)	FBN1	Pathogenic	15	48755406	48755406	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015630
single nucleotide variant	NM_000138.5(FBN1):c.5197T>G (p.Cys1733Gly)	FBN1	Pathogenic	15	48755306	48755306	A	C	criteria provided, single submitter	ClinGen:CA015699
single nucleotide variant	NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter)	FBN1	Pathogenic	15	48755295	48755295	A	T	criteria provided, single submitter	ClinGen:CA015708