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.8021G>A (p.Cys2674Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48707763	48707763	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322605
single nucleotide variant	NM_000138.5(FBN1):c.8021G>C (p.Cys2674Ser)	FBN1	Likely pathogenic	15	48707763	48707763	C	G	criteria provided, single submitter	ClinGen:CA392322608
single nucleotide variant	NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg)	FBN1	Pathogenic/Likely pathogenic	15	48707764	48707764	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614384
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
single nucleotide variant	NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)	FBN1	Likely pathogenic	15	48707770	48707770	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322650
single nucleotide variant	NM_000138.5(FBN1):c.8010C>G (p.Tyr2670Ter)	FBN1	Pathogenic	15	48707774	48707774	G	C	criteria provided, single submitter	ClinGen:CA017517
single nucleotide variant	NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)	FBN1	Pathogenic/Likely pathogenic	15	48707778	48707778	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587787
single nucleotide variant	NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707779	48707779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017505
Deletion	NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del)	FBN1	Likely pathogenic	15	48707780	48707797	CGCCCTCGGTATTGGAACA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8003G>A (p.Gly2668Asp)	FBN1	Likely pathogenic	15	48707781	48707781	C	T	criteria provided, single submitter	ClinGen:CA392322697