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.3975A>C (p.Glu1325Asp)	FBN1	Likely pathogenic	15	48766837	48766837	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.3964+1G>A	FBN1	Pathogenic	15	48773851	48773851	C	T	criteria provided, single submitter	ClinGen:CA014635
single nucleotide variant	NM_000138.5(FBN1):c.3839-1G>T	FBN1	Pathogenic	15	48773978	48773978	C	A	criteria provided, single submitter	ClinGen:CA014581
single nucleotide variant	NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)	FBN1	Likely pathogenic	15	48776015	48776015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014572
Deletion	NM_000138.5(FBN1):c.3773del (p.Pro1258fs)	FBN1	Pathogenic	15	48776080	48776080	AG	A	criteria provided, single submitter	ClinGen:CA014534
single nucleotide variant	NM_000138.5(FBN1):c.3712+1G>A	FBN1	Pathogenic	15	48777570	48777570	C	T	criteria provided, single submitter	ClinGen:CA014467
single nucleotide variant	NM_000138.5(FBN1):c.3668G>T (p.Cys1223Phe)	FBN1	Likely pathogenic	15	48777615	48777615	C	A	criteria provided, single submitter	ClinGen:CA014439
single nucleotide variant	NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)	FBN1	Likely pathogenic	15	48777687	48777687	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014349
single nucleotide variant	NM_000138.5(FBN1):c.3513C>A (p.Cys1171Ter)	FBN1	Pathogenic	15	48779348	48779348	G	T	criteria provided, single submitter	ClinGen:CA014231
single nucleotide variant	NM_000138.5(FBN1):c.3475T>A (p.Cys1159Ser)	FBN1	Likely pathogenic	15	48779386	48779386	A	T	criteria provided, single submitter	ClinGen:CA014185