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.1633C>T (p.Arg545Cys)	FBN1	Pathogenic	15	48802322	48802322	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012342
single nucleotide variant	NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter)	FBN1	Pathogenic/Likely pathogenic	15	48802349	48802349	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392341326
single nucleotide variant	NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48802354	48802354	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012313
single nucleotide variant	NM_000138.5(FBN1):c.1589-1G>A	FBN1	Pathogenic	15	48802367	48802367	C	T	criteria provided, single submitter	ClinGen:CA392341424
single nucleotide variant	NM_000138.5(FBN1):c.1589-9T>A	FBN1	Pathogenic	15	48802375	48802375	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1589-14A>G	FBN1	Likely pathogenic	15	48802380	48802380	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)	FBN1	Pathogenic	15	48805749	48805749	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012291,OMIM:134797.0033
single nucleotide variant	NM_000138.5(FBN1):c.1583G>A (p.Cys528Tyr)	FBN1	Likely pathogenic	15	48805751	48805751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012283
Deletion	NM_000138.5(FBN1):c.1575del (p.Thr526fs)	FBN1	Pathogenic	15	48805759	48805759	TC	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.1572del (p.Arg525fs)	FBN1	Pathogenic	15	48805762	48805762	GC	G	criteria provided, single submitter	ClinGen:CA16614829