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.526C>T (p.Gln176Ter)	FBN1	Pathogenic	15	48888492	48888492	G	A	criteria provided, single submitter	ClinGen:CA10587861
single nucleotide variant	NM_000138.5(FBN1):c.439C>T (p.Gln147Ter)	FBN1	Pathogenic	15	48892339	48892339	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587865
single nucleotide variant	NM_000138.5(FBN1):c.3G>T (p.Met1Ile)	FBN1	Pathogenic	15	48936964	48936964	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587866
single nucleotide variant	NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)	FBN1	Likely pathogenic	15	48812874	48812874	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587868
single nucleotide variant	NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)	FBN1	Pathogenic	15	48936960	48936960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587869
single nucleotide variant	NM_000138.5(FBN1):c.3834T>G (p.Cys1278Trp)	FBN1	Pathogenic/Likely pathogenic	15	48776019	48776019	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588585
Deletion	NM_000138.5(FBN1):c.3238del (p.Leu1080fs)	FBN1	Pathogenic	15	48780409	48780409	AG	A	criteria provided, single submitter	ClinGen:CA10588586
single nucleotide variant	NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	FBN1	Pathogenic/Likely pathogenic	15	48787416	48787416	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588587
Deletion	NM_000138.5(FBN1):c.2094del (p.Cys699fs)	FBN1	Pathogenic	15	48796003	48796003	AC	A	criteria provided, single submitter	ClinGen:CA10588588
single nucleotide variant	NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)	FBN1	Pathogenic/Likely pathogenic	15	48812961	48812961	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588589