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.1287dup (p.Pro430fs)	FBN1	Pathogenic	15	48808419	48808420	G	GT	criteria provided, single submitter	ClinGen:CA658656495
single nucleotide variant	NM_000138.5(FBN1):c.443-1G>A	FBN1	Pathogenic	15	48888576	48888576	C	T	criteria provided, single submitter	ClinGen:CA392446422
Deletion	NM_000138.5(FBN1):c.6327del (p.Ile2110fs)	FBN1	Pathogenic	15	48729571	48729571	TC	T	criteria provided, single submitter	ClinGen:CA658656478
single nucleotide variant	NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter)	FBN1	Pathogenic	15	48744873	48744873	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392344477
Deletion	NM_000138.5(FBN1):c.4555del (p.Glu1518_Leu1519insTer)	FBN1	Pathogenic	15	48760636	48760636	AG	A	criteria provided, single submitter	ClinGen:CA658656482
single nucleotide variant	NM_000138.5(FBN1):c.4337-2A>T	FBN1	Pathogenic	15	48762955	48762955	T	A	criteria provided, single submitter	ClinGen:CA392354872
single nucleotide variant	NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr)	FBN1	Pathogenic	15	48779514	48779514	C	T	criteria provided, single submitter	ClinGen:CA269531142
single nucleotide variant	NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp)	FBN1	Likely pathogenic	15	48782177	48782177	C	A	criteria provided, single submitter	ClinGen:CA392329497
single nucleotide variant	NM_000138.5(FBN1):c.2647T>C (p.Trp883Arg)	FBN1	Pathogenic	15	48787350	48787350	A	G	criteria provided, single submitter	ClinGen:CA392332149
single nucleotide variant	NM_000138.5(FBN1):c.1983C>G (p.Cys661Trp)	FBN1	Pathogenic	15	48796114	48796114	G	C	criteria provided, single submitter	ClinGen:CA392338780