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.6049T>C (p.Cys2017Arg)	FBN1	Pathogenic/Likely pathogenic	15	48734032	48734032	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392338617
single nucleotide variant	NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser)	FBN1	Likely pathogenic	15	48757816	48757816	A	T	criteria provided, single submitter	ClinGen:CA392351157
Indel	NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs)	FBN1	Pathogenic	15	48757886	48757886	A	TG	criteria provided, single submitter	ClinGen:CA658656471
single nucleotide variant	NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr)	FBN1	Pathogenic	15	48760191	48760191	C	T	criteria provided, single submitter	ClinGen:CA16609286
single nucleotide variant	NM_000138.5(FBN1):c.4582+1G>T	FBN1	Pathogenic	15	48760608	48760608	C	A	criteria provided, single submitter	ClinGen:CA392353266
single nucleotide variant	NM_000138.5(FBN1):c.4459+2T>G	FBN1	Likely pathogenic	15	48762829	48762829	A	C	criteria provided, single submitter	ClinGen:CA392354189
Indel	NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs)	FBN1	Pathogenic	15	48786437	48786447	TACCACATATG	GGTAAA	criteria provided, single submitter	ClinGen:CA658656472
Duplication	NM_000138.5(FBN1):c.336dup (p.Ser113fs)	FBN1	Pathogenic	15	48902934	48902935	A	AG	criteria provided, single submitter	ClinGen:CA658656485
Deletion	NC_000015.10:g.(?_48410970)_(48537828_?)del	FBN1	Pathogenic	15	48703167	48830025	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48410970)_(48644789_?)del	FBN1	Pathogenic	15	48703167	48936986	na	na	criteria provided, single submitter	-