マルファン症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NM_000138.5(FBN1):c.974_983del (p.Gly325fs)	FBN1	Pathogenic	15	48818332	48818341	GCATCTGGTAC	G	criteria provided, single submitter	-
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.5066-1G>A	FBN1	Pathogenic	15	48755438	48755438	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.1589-14A>G	FBN1	Likely pathogenic	15	48802380	48802380	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)	FBN1	Likely pathogenic	15	48730095	48730095	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5546-1G>A	FBN1	Pathogenic	15	48741091	48741091	C	T	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)	FBN1	Pathogenic	15	48788401	48788411	GTTCAGTACACA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)	FBN1	Likely pathogenic	15	48713800	48713800	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7299C>G (p.Tyr2433Ter)	FBN1	Likely pathogenic	15	48717967	48717967	G	C	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.5964del (p.Cys1989fs)	FBN1	Likely pathogenic	15	48736811	48736811	AG	A	criteria provided, single submitter	-