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.3496T>C (p.Cys1166Arg)	FBN1	Likely pathogenic	15	48779365	48779365	A	G	criteria provided, single submitter	ClinGen:CA16619958
single nucleotide variant	NM_000138.5(FBN1):c.4252G>T (p.Gly1418Cys)	FBN1	Likely pathogenic	15	48764832	48764832	C	A	criteria provided, single submitter	ClinGen:CA16619956
single nucleotide variant	NM_000138.5(FBN1):c.4936T>G (p.Cys1646Gly)	FBN1	Likely pathogenic	15	48757771	48757771	A	C	criteria provided, single submitter	ClinGen:CA16619955
single nucleotide variant	NM_000138.5(FBN1):c.6037+1G>A	FBN1	Likely pathogenic	15	48736737	48736737	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619947
single nucleotide variant	NM_000138.5(FBN1):c.6112T>G (p.Cys2038Gly)	FBN1	Likely pathogenic	15	48733969	48733969	A	C	criteria provided, single submitter	ClinGen:CA16619946
single nucleotide variant	NM_000138.5(FBN1):c.6277G>A (p.Gly2093Arg)	FBN1	Likely pathogenic	15	48730001	48730001	C	T	criteria provided, single submitter	ClinGen:CA16619945
single nucleotide variant	NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)	FBN1	Likely pathogenic	15	48729235	48729235	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619944
single nucleotide variant	NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp)	FBN1	Likely pathogenic	15	48712933	48712933	G	C	criteria provided, single submitter	ClinGen:CA16619940
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	NC_000015.10:g.(?_48470634)_(48470756_?)del	FBN1	Likely pathogenic	15	48762831	48762953	na	na	criteria provided, single submitter	-