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.5345G>A (p.Cys1782Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48748911	48748911	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392346189
Duplication	NM_000138.5(FBN1):c.5203dup (p.Gln1735fs)	FBN1	Pathogenic	15	48755299	48755300	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798353
Deletion	NM_000138.5(FBN1):c.4888del (p.Gln1630fs)	FBN1	Pathogenic	15	48757819	48757819	TG	T	criteria provided, single submitter	ClinGen:CA658798333
single nucleotide variant	NM_000138.5(FBN1):c.4816+1G>T	FBN1	Pathogenic/Likely pathogenic	15	48757986	48757986	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392351517
Deletion	NM_000138.5(FBN1):c.4813del (p.Glu1605fs)	FBN1	Pathogenic	15	48757990	48757990	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798334
Deletion	NM_000138.5(FBN1):c.4721del (p.Cys1574fs)	FBN1	Pathogenic	15	48760161	48760161	AC	A	criteria provided, single submitter	ClinGen:CA658798340
Duplication	NM_000138.5(FBN1):c.4704dup (p.Ala1569fs)	FBN1	Pathogenic	15	48760177	48760178	C	CT	criteria provided, single submitter	ClinGen:CA658798341
single nucleotide variant	NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)	FBN1	Likely pathogenic	15	48760293	48760293	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392353177
single nucleotide variant	NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)	FBN1	Likely pathogenic	15	48764841	48764841	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392318000
single nucleotide variant	NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr)	FBN1	Pathogenic	15	48766457	48766457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392319891