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.2369G>T (p.Cys790Phe)	FBN1	Pathogenic	15	48788347	48788347	C	A	criteria provided, single submitter	ClinGen:CA16614825
Insertion	NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs)	FBN1	Pathogenic	15	48796068	48796069	C	CT	criteria provided, single submitter	ClinGen:CA16614828
Deletion	NM_000138.5(FBN1):c.1572del (p.Arg525fs)	FBN1	Pathogenic	15	48805762	48805762	GC	G	criteria provided, single submitter	ClinGen:CA16614829
Deletion	NM_000138.5(FBN1):c.1134del (p.Ile379fs)	FBN1	Pathogenic	15	48812869	48812869	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614832
Deletion	NM_000138.5(FBN1):c.801del (p.Ser268fs)	FBN1	Pathogenic	15	48826338	48826338	AC	A	criteria provided, single submitter	ClinGen:CA16614839
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
Deletion	NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)	FBN1	Pathogenic	15	48703274	48703278	GGTTAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619937
Deletion	NM_000138.5(FBN1):c.8256del (p.Ala2754fs)	FBN1	Pathogenic	15	48703547	48703547	GA	G	criteria provided, single submitter	ClinGen:CA16619938
single nucleotide variant	NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp)	FBN1	Likely pathogenic	15	48712933	48712933	G	C	criteria provided, single submitter	ClinGen:CA16619940
single nucleotide variant	NM_000138.5(FBN1):c.6872-2A>G	FBN1	Pathogenic	15	48720670	48720670	T	C	criteria provided, single submitter	ClinGen:CA16619941