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.385T>A (p.Cys129Ser)	FBN1	Likely pathogenic	15	48892393	48892393	A	T	criteria provided, single submitter	ClinGen:CA392446560
Deletion	NM_000138.5(FBN1):c.5943del (p.Arg1982fs)	FBN1	Pathogenic/Likely pathogenic	15	48736832	48736832	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683889
Deletion	NM_000138.5(FBN1):c.5663del (p.Met1888fs)	FBN1	Likely pathogenic	15	48740973	48740973	CA	C	criteria provided, single submitter	ClinGen:CA658683893
Deletion	NM_000138.5(FBN1):c.4640_4641del (p.Thr1547fs)	FBN1	Likely pathogenic	15	48760241	48760242	CTG	C	criteria provided, single submitter	ClinGen:CA658683895
Deletion	NM_000138.5(FBN1):c.4551del (p.Phe1517fs)	FBN1	Likely pathogenic	15	48760640	48760640	CA	C	criteria provided, single submitter	ClinGen:CA658683897
Deletion	NM_000138.5(FBN1):c.4060del (p.Trp1354fs)	FBN1	Likely pathogenic	15	48766752	48766752	CA	C	criteria provided, single submitter	ClinGen:CA658683885
single nucleotide variant	NM_000138.5(FBN1):c.164+2T>A	FBN1	Likely pathogenic	15	48936801	48936801	A	T	criteria provided, single submitter	ClinGen:CA392453390
single nucleotide variant	NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter)	FBN1	Likely pathogenic	15	48730002	48730002	C	T	criteria provided, single submitter	ClinGen:CA392336968
single nucleotide variant	NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)	FBN1	Pathogenic/Likely pathogenic	15	48738948	48738948	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392341191
single nucleotide variant	NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr)	FBN1	Likely pathogenic	15	48744764	48744764	C	T	criteria provided, single submitter	ClinGen:CA392343878