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
Duplication	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	FBN1	Pathogenic	15	48703386	48703387	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)	FBN1	Pathogenic/Likely pathogenic	15	48712903	48712903	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg)	FBN1	Pathogenic/Likely pathogenic	15	48714221	48714221	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7205-2A>C	FBN1	Likely pathogenic	15	48718063	48718063	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg)	FBN1	Pathogenic/Likely pathogenic	15	48719953	48719953	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.6927del (p.Asn2309fs)	FBN1	Likely pathogenic	15	48720613	48720613	TG	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6705del (p.Tyr2236fs)	FBN1	Likely pathogenic	15	48725097	48725097	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter)	FBN1	Pathogenic/Likely pathogenic	15	48730034	48730034	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.6080del (p.Gly2027fs)	FBN1	Likely pathogenic	15	48734001	48734001	GC	G	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.5919dup (p.Ile1974fs)	FBN1	Likely pathogenic	15	48736855	48736856	T	TA	criteria provided, multiple submitters, no conflicts	-