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.8016T>G (p.Cys2672Trp)	FBN1	Likely pathogenic	15	48707768	48707768	A	C	criteria provided, single submitter	ClinGen:CA16043490
Deletion	NM_000138.5(FBN1):c.5416del (p.Cys1806fs)	FBN1	Pathogenic	15	48748840	48748840	CA	C	criteria provided, single submitter	ClinGen:CA16043493
single nucleotide variant	NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe)	FBN1	Likely pathogenic	15	48805853	48805853	C	A	criteria provided, single submitter	ClinGen:CA16043494
Deletion	NM_000138.5(FBN1):c.840_843del (p.Asn280fs)	FBN1	Pathogenic	15	48826296	48826299	CTTCA	C	criteria provided, single submitter	ClinGen:CA16043495
single nucleotide variant	NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)	FBN1	Pathogenic/Likely pathogenic	15	48888540	48888540	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043496
single nucleotide variant	NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)	FBN1	Likely pathogenic	15	48736771	48736771	G	A	criteria provided, single submitter	ClinGen:CA16044046
single nucleotide variant	NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter)	FBN1	Pathogenic/Likely pathogenic	15	48787434	48787434	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16044279
single nucleotide variant	NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly)	FBN1	Pathogenic	15	48800830	48800830	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603266
single nucleotide variant	NM_000138.5(FBN1):c.3563C>A (p.Ser1188Ter)	FBN1	Pathogenic	15	48779298	48779298	G	T	criteria provided, single submitter	ClinGen:CA16603324
single nucleotide variant	NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)	FBN1	Likely pathogenic	15	48707782	48707782	C	A	criteria provided, single submitter	ClinGen:CA16606683