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.2306G>T (p.Cys769Phe)	FBN1	Likely pathogenic	15	48788410	48788410	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp)	FBN1	Pathogenic	15	48802245	48802245	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)	FBN1	Likely pathogenic	15	48805796	48805796	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48888488	48888488	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000015.10:g.(?_48470614)_(48499058_?)del	FBN1	Pathogenic	15	48762811	48791255	na	na	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8329del (p.Ile2777fs)	FBN1	Likely pathogenic	15	48703474	48703474	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)	FBN1	Pathogenic/Likely pathogenic	15	48713791	48713791	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg)	FBN1	Pathogenic	15	48717677	48717677	A	G	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.7251dup (p.Cys2418fs)	FBN1	Pathogenic	15	48718014	48718015	A	AT	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs)	FBN1	Pathogenic	15	48720596	48720597	G	GTGTA	criteria provided, multiple submitters, no conflicts	-