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.3164G>A (p.Cys1055Tyr)	FBN1	Pathogenic	15	48780609	48780609	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013837
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.3392A>G (p.Asn1131Ser)	FBN1	Likely pathogenic	15	48779580	48779580	T	C	criteria provided, single submitter	ClinGen:CA014058
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.3463+1G>T	FBN1	Pathogenic	15	48779508	48779508	C	A	criteria provided, single submitter	ClinGen:CA014135
single nucleotide variant	NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)	FBN1	Pathogenic	15	48892410	48892410	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014457
single nucleotide variant	NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)	FBN1	Likely pathogenic	15	48773930	48773930	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014615
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.4048T>A (p.Cys1350Ser)	FBN1	Likely pathogenic	15	48766764	48766764	A	T	criteria provided, single submitter	ClinGen:CA014710