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_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer)	FBN1	Pathogenic	15	48936918	48936927	AAAAGCACGGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)	FBN1	Likely pathogenic	15	48936911	48936911	G	A	criteria provided, single submitter	ClinGen:CA015969
single nucleotide variant	NM_000138.5(FBN1):c.60C>A (p.Tyr20Ter)	FBN1	Likely pathogenic	15	48936907	48936907	G	T	criteria provided, single submitter	ClinGen:CA16607819
Deletion	NM_000138.5(FBN1):c.111del (p.Arg38fs)	FBN1	Pathogenic	15	48936856	48936856	TG	T	criteria provided, single submitter	ClinGen:CA658798379
Deletion	NM_000138.5(FBN1):c.126del (p.Lys43fs)	FBN1	Pathogenic	15	48936841	48936841	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.163G>T (p.Gly55Ter)	FBN1	Pathogenic	15	48936804	48936804	C	A	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.164+1del	FBN1	Pathogenic/Likely pathogenic	15	48936802	48936802	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.164+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48936802	48936802	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012362,OMIM:134797.0013
single nucleotide variant	NM_000138.5(FBN1):c.164+2T>A	FBN1	Likely pathogenic	15	48936801	48936801	A	T	criteria provided, single submitter	ClinGen:CA392453390
single nucleotide variant	NM_000138.5(FBN1):c.164+2T>C	FBN1	Likely pathogenic	15	48936801	48936801	A	G	criteria provided, single submitter	ClinGen:CA012372