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.6129del (p.Ser2045fs)	FBN1	Pathogenic	15	48733952	48733952	AC	A	criteria provided, single submitter	ClinGen:CA016254
single nucleotide variant	NM_000138.5(FBN1):c.6164-2A>T	FBN1	Pathogenic	15	48730116	48730116	T	A	criteria provided, single submitter	ClinGen:CA016263
single nucleotide variant	NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)	FBN1	Pathogenic	15	48730109	48730109	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016275
single nucleotide variant	NM_000138.5(FBN1):c.6251G>T (p.Cys2084Phe)	FBN1	Likely pathogenic	15	48730027	48730027	C	A	criteria provided, single submitter	ClinGen:CA016301
single nucleotide variant	NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)	FBN1	Pathogenic/Likely pathogenic	15	48730004	48730004	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016311
single nucleotide variant	NM_000138.5(FBN1):c.6313G>C (p.Glu2105Gln)	FBN1	Likely pathogenic	15	48729965	48729965	C	G	criteria provided, single submitter	ClinGen:CA016334
single nucleotide variant	NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	FBN1	Pathogenic/Likely pathogenic	15	48729266	48729266	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016399
Duplication	NM_000138.5(FBN1):c.6406_6407dup (p.Cys2137fs)	FBN1	Pathogenic	15	48729246	48729247	G	GAC	criteria provided, single submitter	ClinGen:CA304353
single nucleotide variant	NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg)	FBN1	Pathogenic/Likely pathogenic	15	48729236	48729236	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016435
single nucleotide variant	NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48729229	48729229	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016442