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.3012C>G (p.Tyr1004Ter)	FBN1	Pathogenic/Likely pathogenic	15	48782118	48782118	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013641
Deletion	NM_000138.5(FBN1):c.3274del (p.Asp1092fs)	FBN1	Pathogenic/Likely pathogenic	15	48780373	48780373	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013950
single nucleotide variant	NM_000138.5(FBN1):c.3337+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48780309	48780309	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013972
single nucleotide variant	NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)	FBN1	Pathogenic/Likely pathogenic	15	48779559	48779559	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014085
single nucleotide variant	NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)	FBN1	Pathogenic/Likely pathogenic	15	48766796	48766796	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014696
single nucleotide variant	NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48764825	48764825	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014905
single nucleotide variant	NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48760686	48760686	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015141
single nucleotide variant	NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)	FBN1	Pathogenic/Likely pathogenic	15	48760660	48760660	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015175
single nucleotide variant	NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter)	FBN1	Pathogenic/Likely pathogenic	15	48760624	48760624	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015204
single nucleotide variant	NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)	FBN1	Pathogenic/Likely pathogenic	15	48758022	48758022	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015420,OMIM:134797.0054