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.1831T>C (p.Cys611Arg)	FBN1	Pathogenic	15	48800785	48800785	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.1823del (p.Gly608fs)	FBN1	Pathogenic	15	48800793	48800793	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)	FBN1	Pathogenic/Likely pathogenic	15	48800799	48800799	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012566
single nucleotide variant	NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)	FBN1	Pathogenic	15	48800809	48800809	G	A	criteria provided, single submitter	ClinGen:CA10587860
single nucleotide variant	NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)	FBN1	Pathogenic	15	48800822	48800822	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly)	FBN1	Pathogenic	15	48800830	48800830	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603266
single nucleotide variant	NM_000138.5(FBN1):c.1783A>T (p.Lys595Ter)	FBN1	Likely pathogenic	15	48800833	48800833	T	A	criteria provided, single submitter	ClinGen:CA392340340
Deletion	NM_000138.5(FBN1):c.1782del (p.Phe594fs)	FBN1	Pathogenic	15	48800834	48800834	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1774G>T (p.Gly592Cys)	FBN1	Likely pathogenic	15	48800842	48800842	C	A	criteria provided, single submitter	ClinGen:CA16606976
single nucleotide variant	NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)	FBN1	Pathogenic/Likely pathogenic	15	48800850	48800850	T	C	criteria provided, multiple submitters, no conflicts	-