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.701G>A (p.Gly234Asp)	FBN1	Pathogenic/Likely pathogenic	15	48829843	48829843	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392445853
Duplication	NM_000138.5(FBN1):c.406dup (p.Cys136fs)	FBN1	Pathogenic	15	48892371	48892372	C	CA	criteria provided, single submitter	ClinGen:CA658798362
single nucleotide variant	NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter)	FBN1	Pathogenic	15	48704819	48704819	T	A	criteria provided, single submitter	ClinGen:CA392320894
single nucleotide variant	NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg)	FBN1	Pathogenic	15	48707830	48707830	A	G	criteria provided, single submitter	ClinGen:CA392322971
single nucleotide variant	NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp)	FBN1	Likely pathogenic	15	48717654	48717654	G	C	criteria provided, single submitter	ClinGen:CA392327946
single nucleotide variant	NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter)	FBN1	Pathogenic	15	48719876	48719876	G	T	criteria provided, single submitter	ClinGen:CA392329883
single nucleotide variant	NM_000138.5(FBN1):c.6998-2A>T	FBN1	Pathogenic	15	48719972	48719972	T	A	criteria provided, single submitter	ClinGen:CA392330377
single nucleotide variant	NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)	FBN1	Pathogenic/Likely pathogenic	15	48726797	48726797	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392334606
Deletion	NM_000138.5(FBN1):c.5756del (p.Gly1919fs)	FBN1	Pathogenic	15	48738935	48738935	AC	A	criteria provided, single submitter	ClinGen:CA658798345
single nucleotide variant	NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr)	FBN1	Pathogenic	15	48756188	48756188	C	T	criteria provided, single submitter	ClinGen:CA392350335