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.7387G>T (p.Glu2463Ter)	FBN1	Pathogenic/Likely pathogenic	15	48717632	48717632	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6827G>A (p.Cys2276Tyr)	FBN1	Pathogenic	15	48722912	48722912	C	T	criteria provided, single submitter	-
Indel	NM_000138.4(FBN1):c.4812_4813delinsCT (p.Leu1604_Glu1605delinsPheTer)	FBN1	Likely pathogenic	15	48757990	48757991	CC	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4224C>A (p.Cys1408Ter)	FBN1	Pathogenic	15	48764860	48764860	G	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.3187dup (p.Ser1063fs)	FBN1	Likely pathogenic	15	48780585	48780586	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7570+5G>A	FBN1	Pathogenic	15	48714144	48714144	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)	FBN1	Likely pathogenic	15	48757770	48757770	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)	FBN1	Likely pathogenic	15	48712884	48712884	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6751T>G (p.Cys2251Gly)	FBN1	Likely pathogenic	15	48722988	48722988	A	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.6634del (p.Gln2212fs)	FBN1	Likely pathogenic	15	48725168	48725168	TG	T	criteria provided, single submitter	-