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.7112G>A (p.Trp2371Ter)	FBN1	Pathogenic	15	48719856	48719856	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392329714
Insertion	NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs)	FBN1	Pathogenic	15	48719848	48719849	G	GGTCC	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.7120del (p.His2374fs)	FBN1	Pathogenic	15	48719848	48719848	TG	T	criteria provided, single submitter	ClinGen:CA658798046
single nucleotide variant	NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter)	FBN1	Pathogenic	15	48719843	48719843	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017025
single nucleotide variant	NM_000138.5(FBN1):c.7132T>C (p.Cys2378Arg)	FBN1	Likely pathogenic	15	48719836	48719836	A	G	criteria provided, single submitter	ClinGen:CA017030
single nucleotide variant	NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)	FBN1	Likely pathogenic	15	48719834	48719834	G	C	criteria provided, single submitter	ClinGen:CA392329546
single nucleotide variant	NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)	FBN1	Pathogenic/Likely pathogenic	15	48719827	48719827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353645
single nucleotide variant	NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)	FBN1	Likely pathogenic	15	48719800	48719800	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017045
single nucleotide variant	NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr)	FBN1	Likely pathogenic	15	48719799	48719799	C	T	criteria provided, single submitter	ClinGen:CA350431
Duplication	NM_000138.5(FBN1):c.7178dup (p.Arg2394fs)	FBN1	Pathogenic	15	48719789	48719790	G	GC	criteria provided, single submitter	-