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.2723G>A (p.Cys908Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48786406	48786406	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392331594
single nucleotide variant	NM_000138.5(FBN1):c.2673A>G (p.Gln891=)	FBN1	Pathogenic/Likely pathogenic	15	48787324	48787324	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA490021918
Deletion	NM_000138.5(FBN1):c.2665del (p.Leu889fs)	FBN1	Pathogenic	15	48787332	48787332	AG	A	criteria provided, single submitter	ClinGen:CA658798339
single nucleotide variant	NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp)	FBN1	Likely pathogenic	15	48787742	48787742	G	C	criteria provided, single submitter	ClinGen:CA392334570
single nucleotide variant	NM_000138.5(FBN1):c.2419+1G>A	FBN1	Likely pathogenic	15	48788296	48788296	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392335047
single nucleotide variant	NM_000138.5(FBN1):c.2168-2A>G	FBN1	Pathogenic	15	48789590	48789590	T	C	criteria provided, single submitter	ClinGen:CA392335960
single nucleotide variant	NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)	FBN1	Pathogenic/Likely pathogenic	15	48796047	48796047	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392338320
Duplication	NM_000138.5(FBN1):c.1852dup (p.Glu618fs)	FBN1	Pathogenic	15	48797329	48797330	T	TC	criteria provided, single submitter	ClinGen:CA658798350
Indel	NM_000138.5(FBN1):c.1839_1840delinsGAAGGT (p.Asp613fs)	FBN1	Pathogenic	15	48797342	48797343	TG	ACCTTC	criteria provided, single submitter	ClinGen:CA658798351
single nucleotide variant	NM_000138.5(FBN1):c.1512T>A (p.Cys504Ter)	FBN1	Pathogenic	15	48805822	48805822	A	T	criteria provided, single submitter	ClinGen:CA392342603