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.3463G>A (p.Asp1155Asn)	FBN1	Pathogenic/Likely pathogenic	15	48779509	48779509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014157
single nucleotide variant	NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)	FBN1	Pathogenic/Likely pathogenic	15	48779628	48779628	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013984
single nucleotide variant	NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)	FBN1	Pathogenic/Likely pathogenic	15	48782177	48782177	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013585
single nucleotide variant	NM_000138.5(FBN1):c.2728+1G>C	FBN1	Pathogenic/Likely pathogenic	15	48786400	48786400	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013392
single nucleotide variant	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	FBN1	Pathogenic/Likely pathogenic	15	48787352	48787352	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013258
single nucleotide variant	NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)	FBN1	Pathogenic/Likely pathogenic	15	48787359	48787359	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013249
single nucleotide variant	NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48787370	48787370	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013240
single nucleotide variant	NM_000138.5(FBN1):c.2539+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48787665	48787665	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013192
single nucleotide variant	NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48788410	48788410	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012956
single nucleotide variant	NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48789576	48789576	C	T	criteria provided, multiple submitters, no conflicts	-