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.2242T>C (p.Cys748Arg)	FBN1	Pathogenic/Likely pathogenic	15	48789514	48789514	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012895
single nucleotide variant	NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)	FBN1	Pathogenic/Likely pathogenic	15	48788375	48788375	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012967
single nucleotide variant	NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48905215	48905215	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012984
single nucleotide variant	NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter)	FBN1	Pathogenic	15	48788309	48788309	T	A	criteria provided, single submitter	ClinGen:CA012993
Deletion	NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer)	FBN1	Pathogenic	15	48788303	48788304	CAT	C	criteria provided, single submitter	ClinGen:CA013002
single nucleotide variant	NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)	FBN1	Likely pathogenic	15	48787758	48787758	C	G	criteria provided, single submitter	ClinGen:CA013074
single nucleotide variant	NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)	FBN1	Likely pathogenic	15	48787757	48787757	G	C	criteria provided, single submitter	ClinGen:CA013083
single nucleotide variant	NM_000138.5(FBN1):c.247+1G>A	FBN1	Pathogenic	15	48905206	48905206	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013099,OMIM:134797.0035
Duplication	NM_000138.5(FBN1):c.247+2dup	FBN1	Likely pathogenic	15	48905204	48905205	T	TA	criteria provided, single submitter	ClinGen:CA013108
single nucleotide variant	NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)	FBN1	Likely pathogenic	15	48787717	48787717	A	C	criteria provided, single submitter	ClinGen:CA013135