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
Deletion	NC_000015.10:g.(?_48503767)_(48510189_?)del	FBN1	Pathogenic	15	48795964	48802386	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48508562)_(48516382_?)del	FBN1	Pathogenic	15	48800759	48808579	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48508562)_(48644789_?)del	FBN1	Pathogenic	15	48800759	48936986	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7819+1G>T	FBN1	Likely pathogenic	15	48712883	48712883	C	A	criteria provided, single submitter	ClinGen:CA392324380
single nucleotide variant	NM_000138.5(FBN1):c.7605C>G (p.Cys2535Trp)	FBN1	Pathogenic	15	48713849	48713849	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392325736
Deletion	NM_000138.5(FBN1):c.6645del (p.Leu2216fs)	FBN1	Pathogenic	15	48725157	48725157	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656468
single nucleotide variant	NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser)	FBN1	Pathogenic	15	48729263	48729263	A	T	criteria provided, single submitter	ClinGen:CA392336694
Deletion	NM_000138.5(FBN1):c.6048_6056del (p.Cys2017_Glu2019del)	FBN1	Pathogenic	15	48734025	48734033	TTCGACACAC	T	criteria provided, single submitter	ClinGen:CA658656484
single nucleotide variant	NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly)	FBN1	Likely pathogenic	15	48737666	48737666	A	C	criteria provided, single submitter	ClinGen:CA392340125
single nucleotide variant	NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp)	FBN1	Pathogenic/Likely pathogenic	15	48760652	48760652	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392353476