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.3140_3141del (p.Thr1047fs)	FBN1	Pathogenic/Likely pathogenic	15	48780632	48780633	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013816
Deletion	NM_000138.5(FBN1):c.3193del (p.Glu1065fs)	FBN1	Pathogenic/Likely pathogenic	15	48780580	48780580	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013866
single nucleotide variant	NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)	FBN1	Likely pathogenic	15	48779383	48779383	C	A	criteria provided, single submitter	ClinGen:CA014194
single nucleotide variant	NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)	FBN1	Likely pathogenic	15	48766497	48766497	A	C	criteria provided, single submitter	ClinGen:CA014826
single nucleotide variant	NM_000138.5(FBN1):c.4460-8G>A	FBN1	Pathogenic/Likely pathogenic	15	48760739	48760739	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015110
single nucleotide variant	NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)	FBN1	Likely pathogenic	15	48888564	48888564	T	A	criteria provided, single submitter	ClinGen:CA015186
single nucleotide variant	NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	FBN1	Pathogenic/Likely pathogenic	15	48760294	48760294	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015232
single nucleotide variant	NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)	FBN1	Likely pathogenic	15	48760198	48760198	A	T	criteria provided, single submitter	ClinGen:CA015315
single nucleotide variant	NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	FBN1	Pathogenic	15	48758017	48758017	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015431
single nucleotide variant	NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)	FBN1	Pathogenic/Likely pathogenic	15	48888508	48888508	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015657