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	NC_000015.10:g.(?_48410970)_(48497411_?)del	FBN1	Pathogenic	15	48703167	48789608	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48410970)_(48537828_?)del	FBN1	Pathogenic	15	48703167	48830025	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48410970)_(48644789_?)del	FBN1	Pathogenic	15	48703167	48936986	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48410970)_(48412763_?)del	FBN1	Pathogenic	15	48703167	48704960	na	na	criteria provided, single submitter	-
Deletion	NC_000015.9:g.48703187_48748959del45773	FBN1	Pathogenic	15	48703187	48748959	na	na	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)	FBN1	Likely pathogenic	15	48703197	48703198	CAA	C	criteria provided, single submitter	ClinGen:CA017840
single nucleotide variant	NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)	FBN1	Likely pathogenic	15	48703203	48703203	T	G	criteria provided, single submitter	ClinGen:CA017835
single nucleotide variant	NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)	FBN1	Likely pathogenic	15	48703212	48703212	A	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8561del (p.Leu2854fs)	FBN1	Likely pathogenic	15	48703242	48703242	GA	G	criteria provided, single submitter	ClinGen:CA16614472
Deletion	NM_000138.5(FBN1):c.8544del (p.Lys2848fs)	FBN1	Pathogenic	15	48703259	48703259	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017809