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.299G>T (p.Cys100Phe)	FBN1	Likely pathogenic	15	48902972	48902972	C	A	criteria provided, single submitter	ClinGen:CA013619
single nucleotide variant	NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)	FBN1	Likely pathogenic	15	48902967	48902967	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.305G>T (p.Cys102Phe)	FBN1	Likely pathogenic	15	48902966	48902966	C	A	criteria provided, single submitter	ClinGen:CA013737
single nucleotide variant	NM_000138.5(FBN1):c.306C>A (p.Cys102Ter)	FBN1	Likely pathogenic	15	48902965	48902965	G	T	criteria provided, single submitter	ClinGen:CA16607112
Duplication	NM_000138.5(FBN1):c.336dup (p.Ser113fs)	FBN1	Pathogenic	15	48902934	48902935	A	AG	criteria provided, single submitter	ClinGen:CA658656485
Deletion	NC_000015.10:g.(?_48610708)_(48613112_?)del	FBN1	Pathogenic	15	48902905	48905309	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.347-2A>G	FBN1	Pathogenic	15	48892433	48892433	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392446647
single nucleotide variant	NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	FBN1	Pathogenic	15	48892414	48892414	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014381,OMIM:134797.0018
single nucleotide variant	NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)	FBN1	Pathogenic	15	48892410	48892410	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014457
single nucleotide variant	NM_000138.5(FBN1):c.385T>A (p.Cys129Ser)	FBN1	Likely pathogenic	15	48892393	48892393	A	T	criteria provided, single submitter	ClinGen:CA392446560