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.5720A>G (p.Asn1907Ser)	FBN1	Likely pathogenic	15	48738971	48738971	T	C	criteria provided, single submitter	ClinGen:CA16614507
Deletion	NM_000138.5(FBN1):c.8087del (p.Asn2696fs)	FBN1	Likely pathogenic	15	48704905	48704905	GT	G	criteria provided, single submitter	ClinGen:CA16614478
Deletion	NM_000138.5(FBN1):c.8561del (p.Leu2854fs)	FBN1	Likely pathogenic	15	48703242	48703242	GA	G	criteria provided, single submitter	ClinGen:CA16614472
single nucleotide variant	NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe)	FBN1	Likely pathogenic	15	48762923	48762923	C	A	criteria provided, single submitter	ClinGen:CA16614429
single nucleotide variant	NM_000138.5(FBN1):c.4583-5A>G	FBN1	Likely pathogenic	15	48760304	48760304	T	C	reviewed by expert panel	ClinGen:CA16614422
single nucleotide variant	NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)	FBN1	Likely pathogenic	15	48748926	48748926	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614417
single nucleotide variant	NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)	FBN1	Likely pathogenic	15	48726831	48726831	G	C	criteria provided, single submitter	ClinGen:CA16614406
single nucleotide variant	NM_000138.5(FBN1):c.60C>A (p.Tyr20Ter)	FBN1	Likely pathogenic	15	48936907	48936907	G	T	criteria provided, single submitter	ClinGen:CA16607819
single nucleotide variant	NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)	FBN1	Likely pathogenic	15	48786406	48786406	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607810
single nucleotide variant	NM_000138.5(FBN1):c.5285G>T (p.Gly1762Val)	FBN1	Likely pathogenic	15	48752454	48752454	C	A	criteria provided, single submitter	ClinGen:CA16607804