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
Duplication	NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs)	FBN1	Pathogenic	15	48725119	48725120	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606894
Deletion	NM_000138.5(FBN1):c.4759del (p.Ile1587fs)	FBN1	Pathogenic	15	48758044	48758044	AT	A	criteria provided, single submitter	ClinGen:CA16042871
Deletion	NM_000138.5(FBN1):c.2254del (p.Ser752fs)	FBN1	Pathogenic	15	48789502	48789502	GA	G	criteria provided, single submitter	ClinGen:CA16042876
single nucleotide variant	NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter)	FBN1	Likely pathogenic	15	48703528	48703528	C	A	criteria provided, single submitter	ClinGen:CA16042931
single nucleotide variant	NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)	FBN1	Likely pathogenic	15	48707905	48707905	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042933
single nucleotide variant	NM_000138.5(FBN1):c.6164-2A>G	FBN1	Pathogenic/Likely pathogenic	15	48730116	48730116	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042941
single nucleotide variant	NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)	FBN1	Likely pathogenic	15	48733995	48733995	C	T	criteria provided, single submitter	ClinGen:CA16042943
single nucleotide variant	NM_000138.5(FBN1):c.3789C>G (p.Cys1263Trp)	FBN1	Likely pathogenic	15	48776064	48776064	G	C	criteria provided, single submitter	ClinGen:CA16042964
Deletion	NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs)	FBN1	Likely pathogenic	15	48717584	48717587	TCCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043002
Deletion	NM_000138.5(FBN1):c.6206del (p.Lys2069fs)	FBN1	Likely pathogenic	15	48730072	48730072	CT	C	criteria provided, single submitter	ClinGen:CA16043006