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
single nucleotide variant	NM_000138.5(FBN1):c.7204+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48719763	48719763	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.6163+1G>A	FBN1	Likely pathogenic	15	48733917	48733917	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp)	FBN1	Pathogenic/Likely pathogenic	15	48734030	48734030	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000138.5(FBN1):c.5613del (p.Tyr1873fs)	FBN1	Pathogenic	15	48741023	48741023	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.5296+5G>C	FBN1	Pathogenic	15	48752438	48752438	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.4942+1G>A	FBN1	Pathogenic	15	48757764	48757764	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3766A>C (p.Asn1256His)	FBN1	Pathogenic	15	48776087	48776087	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter)	FBN1	Pathogenic	15	48777659	48777659	A	T	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.3595_3608dup (p.Ile1203fs)	FBN1	Pathogenic	15	48777674	48777675	T	TATGCTGCATTCATC	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.2384del (p.Gly795fs)	FBN1	Pathogenic	15	48788332	48788332	TC	T	criteria provided, single submitter	-