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.629G>A (p.Cys210Tyr)	FBN1	Likely pathogenic	15	48829915	48829915	C	T	reviewed by expert panel	ClinGen:CA392446003
single nucleotide variant	NM_000138.5(FBN1):c.2677+5G>C	FBN1	Likely pathogenic	15	48787315	48787315	C	G	criteria provided, single submitter	ClinGen:CA645293892
single nucleotide variant	NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe)	FBN1	Likely pathogenic	15	48764825	48764825	C	A	criteria provided, single submitter	ClinGen:CA392317902
single nucleotide variant	NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)	FBN1	Likely pathogenic	15	48714265	48714265	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392326285
single nucleotide variant	NM_000138.5(FBN1):c.7862C>G (p.Ser2621Cys)	FBN1	Likely pathogenic	15	48707922	48707922	G	C	criteria provided, single submitter	ClinGen:CA392323378
single nucleotide variant	NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser)	FBN1	Likely pathogenic	15	48704822	48704822	G	A	criteria provided, single submitter	ClinGen:CA392320926
single nucleotide variant	NM_000138.5(FBN1):c.736+1G>A	FBN1	Likely pathogenic	15	48829807	48829807	C	T	criteria provided, single submitter	ClinGen:CA16619978
Duplication	NM_000138.5(FBN1):c.2934dup (p.Ala979fs)	FBN1	Likely pathogenic	15	48782195	48782196	C	CG	criteria provided, single submitter	ClinGen:CA16619963
single nucleotide variant	NM_000138.5(FBN1):c.3283T>A (p.Cys1095Ser)	FBN1	Likely pathogenic	15	48780364	48780364	A	T	criteria provided, single submitter	ClinGen:CA16619961
single nucleotide variant	NM_000138.5(FBN1):c.3380G>T (p.Gly1127Val)	FBN1	Likely pathogenic	15	48779592	48779592	C	A	criteria provided, single submitter	ClinGen:CA16619960