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.6244G>T (p.Glu2082Ter)	FBN1	Pathogenic/Likely pathogenic	15	48730034	48730034	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg)	FBN1	Pathogenic/Likely pathogenic	15	48719953	48719953	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg)	FBN1	Pathogenic/Likely pathogenic	15	48714221	48714221	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)	FBN1	Pathogenic/Likely pathogenic	15	48712903	48712903	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.441del (p.Gln147fs)	FBN1	Pathogenic/Likely pathogenic	15	48892337	48892337	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798360
single nucleotide variant	NM_000138.5(FBN1):c.1837+5G>A	FBN1	Pathogenic/Likely pathogenic	15	48800774	48800774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA617839729
single nucleotide variant	NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)	FBN1	Pathogenic/Likely pathogenic	15	48726797	48726797	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392334606
single nucleotide variant	NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)	FBN1	Pathogenic/Likely pathogenic	15	48829843	48829843	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392445853
single nucleotide variant	NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48788374	48788374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392335455
single nucleotide variant	NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)	FBN1	Pathogenic/Likely pathogenic	15	48766781	48766781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392320523