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.3463G>A (p.Asp1155Asn)	FBN1	Pathogenic/Likely pathogenic	15	48779509	48779509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014157
Duplication	NM_000138.5(FBN1):c.3424_3427dup (p.Gly1143fs)	FBN1	Pathogenic	15	48779544	48779545	C	CCAGG	criteria provided, single submitter	ClinGen:CA304347
Duplication	NM_000138.5(FBN1):c.3401dup (p.Ser1135fs)	FBN1	Pathogenic	15	48779570	48779571	T	TC	criteria provided, single submitter	ClinGen:CA304409
single nucleotide variant	NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly)	FBN1	Pathogenic/Likely pathogenic	15	48779628	48779628	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013984
single nucleotide variant	NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val)	FBN1	Pathogenic	15	48780600	48780600	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013848
single nucleotide variant	NM_000138.5(FBN1):c.3145G>T (p.Gly1049Cys)	FBN1	Likely pathogenic	15	48780628	48780628	C	A	criteria provided, single submitter	ClinGen:CA013826
single nucleotide variant	NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)	FBN1	Pathogenic/Likely pathogenic	15	48782177	48782177	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013585
single nucleotide variant	NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter)	FBN1	Pathogenic	15	48784706	48784706	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013419
Duplication	NM_000138.5(FBN1):c.2786_2789dup (p.Arg930delinsSerTer)	FBN1	Pathogenic	15	48784722	48784723	C	CCTAG	criteria provided, single submitter	ClinGen:CA304346
single nucleotide variant	NM_000138.5(FBN1):c.2728+1G>C	FBN1	Pathogenic/Likely pathogenic	15	48786400	48786400	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013392