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.3211del (p.Ile1071fs)	FBN1	Pathogenic	15	48780436	48780436	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser)	FBN1	Likely pathogenic	15	48780570	48780570	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp)	FBN1	Pathogenic	15	48780600	48780600	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter)	FBN1	Pathogenic	15	48782078	48782078	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2740T>C (p.Cys914Arg)	FBN1	Likely pathogenic	15	48784772	48784772	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter)	FBN1	Pathogenic	15	48786410	48786410	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter)	FBN1	Pathogenic	15	48787348	48787348	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser)	FBN1	Pathogenic	15	48787374	48787374	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser)	FBN1	Pathogenic	15	48787710	48787710	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr)	FBN1	Pathogenic	15	48788302	48788302	C	T	criteria provided, single submitter	-