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.3302A>G (p.Tyr1101Cys)	FBN1	Pathogenic/Likely pathogenic	15	48780345	48780345	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)	FBN1	Pathogenic/Likely pathogenic	15	48779634	48779634	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)	FBN1	Pathogenic/Likely pathogenic	15	48779386	48779386	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)	FBN1	Pathogenic/Likely pathogenic	15	48779307	48779307	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)	FBN1	Pathogenic/Likely pathogenic	15	48777627	48777627	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)	FBN1	Pathogenic/Likely pathogenic	15	48760723	48760723	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)	FBN1	Pathogenic/Likely pathogenic	15	48758037	48758037	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.5672-1G>A	FBN1	Pathogenic/Likely pathogenic	15	48739020	48739020	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.6740-2del	FBN1	Pathogenic/Likely pathogenic	15	48723001	48723001	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)	FBN1	Pathogenic/Likely pathogenic	15	48717609	48717609	G	C	criteria provided, multiple submitters, no conflicts	-