マルファン症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_000138.5(FBN1):c.2934dup (p.Ala979fs)	FBN1	Likely pathogenic	15	48782195	48782196	C	CG	criteria provided, single submitter	ClinGen:CA16619963
Deletion	NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs)	FBN1	Pathogenic	15	48782210	48782228	CGGCCAGCAATAGGCAGGGT	C	criteria provided, single submitter	ClinGen:CA16619964
Deletion	NM_000138.5(FBN1):c.2712del (p.Gly905fs)	FBN1	Pathogenic	15	48786417	48786417	CT	C	criteria provided, single submitter	ClinGen:CA16619965
single nucleotide variant	NM_000138.5(FBN1):c.2294-1G>T	FBN1	Pathogenic	15	48788423	48788423	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619967
Deletion	NM_000138.5(FBN1):c.2269del (p.Asp757fs)	FBN1	Pathogenic	15	48789487	48789487	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619968
single nucleotide variant	NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48789513	48789513	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619969
single nucleotide variant	NM_000138.5(FBN1):c.2179T>C (p.Cys727Arg)	FBN1	Pathogenic	15	48789577	48789577	A	G	criteria provided, single submitter	ClinGen:CA16619970
Duplication	NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs)	FBN1	Pathogenic	15	48796042	48796043	G	GCAACA	criteria provided, single submitter	ClinGen:CA16619971
Duplication	NM_000138.5(FBN1):c.2003_2007dup (p.Cys670fs)	FBN1	Pathogenic	15	48796089	48796090	A	ACTGGC	criteria provided, single submitter	ClinGen:CA16619972
Deletion	NM_000138.5(FBN1):c.1361_1371del (p.Gln454fs)	FBN1	Pathogenic	15	48807681	48807691	AGCGGACCAACT	A	criteria provided, single submitter	ClinGen:CA16619974