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.1916G>A (p.Cys639Tyr)	FBN1	Likely pathogenic	15	48797266	48797266	C	T	criteria provided, single submitter	ClinGen:CA10583253
single nucleotide variant	NM_000138.5(FBN1):c.732T>A (p.Cys244Ter)	FBN1	Pathogenic	15	48829812	48829812	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583254
single nucleotide variant	NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48892344	48892344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583255
single nucleotide variant	NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)	FBN1	Pathogenic	15	48703315	48703315	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587783
single nucleotide variant	NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)	FBN1	Pathogenic	15	48704843	48704843	C	A	criteria provided, single submitter	ClinGen:CA10587785
single nucleotide variant	NM_000138.5(FBN1):c.7939C>T (p.Gln2647Ter)	FBN1	Pathogenic	15	48707845	48707845	G	A	criteria provided, single submitter	ClinGen:CA10587786
single nucleotide variant	NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val)	FBN1	Pathogenic/Likely pathogenic	15	48707778	48707778	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587787
single nucleotide variant	NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter)	FBN1	Pathogenic	15	48712911	48712911	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587788
single nucleotide variant	NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)	FBN1	Pathogenic/Likely pathogenic	15	48712995	48712995	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587791
Deletion	NM_000138.5(FBN1):c.7092_7093del (p.Cys2364fs)	FBN1	Pathogenic	15	48719875	48719876	CAG	C	criteria provided, single submitter	ClinGen:CA10587792