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
Deletion	NM_000138.5(FBN1):c.2714del (p.Gly905fs)	FBN1	Likely pathogenic	15	48786415	48786415	TC	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs)	FBN1	Likely pathogenic	15	48791222	48791231	GTGCCTGATAT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe)	FBN1	Pathogenic/Likely pathogenic	15	48796046	48796046	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)	FBN1	Pathogenic	15	48703286	48703287	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)	FBN1	Likely pathogenic	15	48703356	48703356	T	G	criteria provided, single submitter	-
Indel	NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)	FBN1	Pathogenic	15	48707733	48707733	C	AA	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)	FBN1	Likely pathogenic	15	48707802	48707802	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)	FBN1	Pathogenic	15	48707863	48707863	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)	FBN1	Pathogenic/Likely pathogenic	15	48707892	48707892	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)	FBN1	Pathogenic	15	48707913	48707913	T	C	criteria provided, single submitter	-