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
Insertion	NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs)	FBN1	Pathogenic	15	48713803	48713804	C	CT	criteria provided, single submitter	ClinGen:CA16614783
single nucleotide variant	NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)	FBN1	Likely pathogenic	15	48714194	48714194	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614786
Deletion	NM_000138.5(FBN1):c.7421del (p.Tyr2474fs)	FBN1	Pathogenic	15	48717598	48717598	GT	G	criteria provided, single submitter	ClinGen:CA16614790
single nucleotide variant	NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter)	FBN1	Pathogenic	15	48722955	48722955	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602237
Deletion	NM_000138.5(FBN1):c.6541del (p.Cys2181fs)	FBN1	Pathogenic	15	48726866	48726866	CA	C	criteria provided, single submitter	ClinGen:CA16614795
single nucleotide variant	NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)	FBN1	Pathogenic	15	48766496	48766496	C	G	criteria provided, single submitter	ClinGen:CA16614806
Duplication	NM_000138.5(FBN1):c.3973dup (p.Glu1325fs)	FBN1	Pathogenic	15	48766838	48766839	T	TC	criteria provided, single submitter	ClinGen:CA16614813
single nucleotide variant	NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)	FBN1	Pathogenic/Likely pathogenic	15	48786407	48786407	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614815
single nucleotide variant	NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)	FBN1	Pathogenic	15	48787340	48787340	G	A	criteria provided, single submitter	ClinGen:CA16614816
single nucleotide variant	NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg)	FBN1	Pathogenic	15	48787359	48787359	C	G	criteria provided, single submitter	ClinGen:CA16614821