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.3202T>C (p.Cys1068Arg)	FBN1	Pathogenic	15	48780571	48780571	A	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.3144del (p.Ile1048fs)	FBN1	Pathogenic	15	48780629	48780629	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)	FBN1	Pathogenic/Likely pathogenic	15	48780630	48780630	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter)	FBN1	Pathogenic	15	48780641	48780641	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg)	FBN1	Pathogenic	15	48782108	48782108	A	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2793del (p.Ser932fs)	FBN1	Pathogenic	15	48784719	48784719	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter)	FBN1	Pathogenic	15	48784775	48784775	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)	FBN1	Likely pathogenic	15	48787320	48787320	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)	FBN1	Pathogenic	15	48787412	48787412	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter)	FBN1	Pathogenic	15	48787435	48787435	C	T	criteria provided, single submitter	-