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
Deletion	NM_000138.5(FBN1):c.799_805del (p.Gly267fs)	FBN1	Likely pathogenic	15	48826334	48826340	AAAGACCC	A	reviewed by expert panel	ClinGen:CA16614686
single nucleotide variant	NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)	FBN1	Likely pathogenic	15	48826328	48826328	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614684
single nucleotide variant	NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)	FBN1	Likely pathogenic	15	48807626	48807626	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614683
single nucleotide variant	NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)	FBN1	Likely pathogenic	15	48805809	48805809	C	A	criteria provided, single submitter	ClinGen:CA16614676
single nucleotide variant	NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)	FBN1	Likely pathogenic	15	48805796	48805796	C	A	reviewed by expert panel	ClinGen:CA16614674
single nucleotide variant	NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)	FBN1	Likely pathogenic	15	48755296	48755296	C	T	criteria provided, single submitter	ClinGen:CA16614644
single nucleotide variant	NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe)	FBN1	Likely pathogenic	15	48730069	48730069	C	A	criteria provided, single submitter	ClinGen:CA16614630
single nucleotide variant	NM_000138.5(FBN1):c.2420-2A>G	FBN1	Likely pathogenic	15	48787787	48787787	T	C	criteria provided, single submitter	ClinGen:CA16614523
single nucleotide variant	NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr)	FBN1	Likely pathogenic	15	48779553	48779553	C	T	criteria provided, single submitter	ClinGen:CA16614520
single nucleotide variant	NM_000138.5(FBN1):c.5672-87A>G	FBN1	Likely pathogenic	15	48739106	48739106	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614509