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.649T>G (p.Trp217Gly)	FBN1	Likely pathogenic	15	48829895	48829895	A	C	criteria provided, single submitter	ClinGen:CA016532
single nucleotide variant	NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)	FBN1	Likely pathogenic	15	48729269	48729269	C	A	criteria provided, single submitter	ClinGen:CA016393
Duplication	NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)	FBN1	Likely pathogenic	15	48736762	48736763	T	TGTATCCA	criteria provided, single submitter	ClinGen:CA281824
single nucleotide variant	NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)	FBN1	Likely pathogenic	15	48936911	48936911	G	A	criteria provided, single submitter	ClinGen:CA015969
single nucleotide variant	NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)	FBN1	Likely pathogenic	15	48740965	48740965	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015930
single nucleotide variant	NM_000138.5(FBN1):c.556T>C (p.Cys186Arg)	FBN1	Likely pathogenic	15	48829988	48829988	A	G	criteria provided, single submitter	ClinGen:CA015898
single nucleotide variant	NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)	FBN1	Likely pathogenic	15	48741084	48741084	T	C	criteria provided, single submitter	ClinGen:CA015886
Deletion	NM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs)	FBN1	Likely pathogenic	15	48744776	48744783	GGAGGTGAA	G	criteria provided, single submitter	ClinGen:CA015869
single nucleotide variant	NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)	FBN1	Likely pathogenic	15	48760198	48760198	A	T	criteria provided, single submitter	ClinGen:CA015315
single nucleotide variant	NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)	FBN1	Likely pathogenic	15	48888564	48888564	T	A	criteria provided, single submitter	ClinGen:CA015186