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.5015G>T (p.Cys1672Phe)	FBN1	Pathogenic	15	48756146	48756146	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter)	FBN1	Pathogenic	15	48757814	48757814	G	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs)	FBN1	Pathogenic	15	48757868	48757869	T	TAGCTCCTGGC	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.4639dup (p.Thr1547fs)	FBN1	Pathogenic	15	48760242	48760243	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg)	FBN1	Pathogenic	15	48773858	48773858	A	G	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.3945dup (p.Gly1316fs)	FBN1	Pathogenic	15	48773870	48773871	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer)	FBN1	Pathogenic	15	48773942	48773942	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly)	FBN1	Pathogenic	15	48779388	48779388	T	C	criteria provided, single submitter	-
Indel	NM_000138.5(FBN1):c.3374_3379delinsAAAGT (p.Arg1125fs)	FBN1	Pathogenic	15	48779593	48779598	CACCTC	ACTTT	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.3349del (p.Cys1117fs)	FBN1	Pathogenic	15	48779623	48779623	CA	C	criteria provided, single submitter	-