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.1909T>C (p.Cys637Arg)	FBN1	Likely pathogenic	15	48797273	48797273	A	G	criteria provided, single submitter	ClinGen:CA353632
single nucleotide variant	NM_000138.5(FBN1):c.8226+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48704765	48704765	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576035,OMIM:134797.0070
Deletion	NM_000138.5(FBN1):c.1714+2del	FBN1	Likely pathogenic	15	48802239	48802239	TA	T	criteria provided, single submitter	ClinGen:CA10576991
single nucleotide variant	NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)	FBN1	Likely pathogenic	15	48902972	48902972	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576993
Deletion	NM_000138.5(FBN1):c.2964_2971del (p.Trp988_Glu991delinsTer)	FBN1	Pathogenic	15	48782159	48782166	TCAGTACCC	T	criteria provided, single submitter	ClinGen:CA10581403
single nucleotide variant	NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)	FBN1	Likely pathogenic	15	48730006	48730006	C	T	criteria provided, single submitter	ClinGen:CA10583240
single nucleotide variant	NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)	FBN1	Pathogenic/Likely pathogenic	15	48739008	48739008	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583241
single nucleotide variant	NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser)	FBN1	Likely pathogenic	15	48744800	48744800	C	G	criteria provided, single submitter	ClinGen:CA10583242
single nucleotide variant	NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter)	FBN1	Pathogenic	15	48756123	48756123	G	A	criteria provided, single submitter	ClinGen:CA10583244
single nucleotide variant	NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser)	FBN1	Pathogenic/Likely pathogenic	15	48762836	48762836	C	G	criteria provided, single submitter	ClinGen:CA10583246