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.7325G>A (p.Cys2442Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48717941	48717941	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000138.5(FBN1):c.7330+1G>A	FBN1	Pathogenic	15	48717935	48717935	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392328478
Deletion	NM_000138.5(FBN1):c.7330+3_7330+6del	FBN1	Likely pathogenic	15	48717930	48717933	CACTT	C	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly)	FBN1	Pathogenic	15	48717688	48717688	T	C	criteria provided, single submitter	ClinGen:CA16614395
single nucleotide variant	NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)	FBN1	Pathogenic/Likely pathogenic	15	48717680	48717680	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017155,OMIM:134797.0015
single nucleotide variant	NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg)	FBN1	Pathogenic	15	48717677	48717677	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.7363T>C (p.Cys2455Arg)	FBN1	Likely pathogenic	15	48717656	48717656	A	G	criteria provided, single submitter	ClinGen:CA10587794
single nucleotide variant	NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48717655	48717655	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327954
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
Duplication	NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)	FBN1	Pathogenic	15	48717647	48717648	T	TA	criteria provided, single submitter	-