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.386G>A (p.Cys129Tyr)	FBN1	Pathogenic	15	48892392	48892392	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.386del (p.Cys129fs)	FBN1	Likely pathogenic	15	48892392	48892392	GC	G	criteria provided, single submitter	ClinGen:CA658798363
single nucleotide variant	NM_000138.5(FBN1):c.387C>G (p.Cys129Trp)	FBN1	Likely pathogenic	15	48892391	48892391	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)	FBN1	Pathogenic	15	48892378	48892378	A	G	criteria provided, single submitter	ClinGen:CA392446523
single nucleotide variant	NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48892377	48892377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446521
single nucleotide variant	NM_000138.5(FBN1):c.406T>G (p.Cys136Gly)	FBN1	Pathogenic	15	48892372	48892372	A	C	criteria provided, single submitter	ClinGen:CA392446510
Duplication	NM_000138.5(FBN1):c.406dup (p.Cys136fs)	FBN1	Pathogenic	15	48892371	48892372	C	CA	criteria provided, single submitter	ClinGen:CA658798362
single nucleotide variant	NM_000138.5(FBN1):c.408C>G (p.Cys136Trp)	FBN1	Likely pathogenic	15	48892370	48892370	G	C	criteria provided, single submitter	ClinGen:CA392446504
single nucleotide variant	NM_000138.5(FBN1):c.409C>T (p.Gln137Ter)	FBN1	Pathogenic	15	48892369	48892369	G	A	criteria provided, single submitter	ClinGen:CA16614846
single nucleotide variant	NM_000138.5(FBN1):c.412A>T (p.Lys138Ter)	FBN1	Pathogenic	15	48892366	48892366	T	A	criteria provided, single submitter	ClinGen:CA392446496