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.4031G>A (p.Gly1344Glu)	FBN1	Pathogenic/Likely pathogenic	15	48766781	48766781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392320523
Deletion	NM_000138.5(FBN1):c.6966del (p.Phe2322fs)	FBN1	Pathogenic	15	48720574	48720574	TA	T	criteria provided, single submitter	ClinGen:CA658798047
Duplication	NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter)	FBN1	Pathogenic	15	48777626	48777627	A	AT	criteria provided, single submitter	ClinGen:CA658798370
single nucleotide variant	NM_000138.5(FBN1):c.3408C>A (p.Tyr1136Ter)	FBN1	Pathogenic	15	48779564	48779564	G	T	criteria provided, single submitter	ClinGen:CA392326422
Deletion	NM_000138.5(FBN1):c.2887_2893del (p.Glu963fs)	FBN1	Pathogenic	15	48782237	48782243	TCGTCCTC	T	criteria provided, single submitter	ClinGen:CA658798374
Deletion	NM_000138.5(FBN1):c.6023del (p.Asn2008fs)	FBN1	Pathogenic	15	48736752	48736752	AT	A	criteria provided, single submitter	ClinGen:CA658798336
single nucleotide variant	NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)	FBN1	Likely pathogenic	15	48748839	48748839	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392345808
Deletion	NM_000138.5(FBN1):c.5062del (p.Met1688fs)	FBN1	Pathogenic	15	48756099	48756099	AT	A	criteria provided, single submitter	ClinGen:CA658798356
single nucleotide variant	NM_000138.5(FBN1):c.4816+1G>C	FBN1	Pathogenic	15	48757986	48757986	C	G	criteria provided, single submitter	ClinGen:CA392351519
single nucleotide variant	NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr)	FBN1	Likely pathogenic	15	48760681	48760681	T	A	criteria provided, single submitter	ClinGen:CA392353614