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.6751T>A (p.Cys2251Ser)	FBN1	Pathogenic/Likely pathogenic	15	48722988	48722988	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392332895
single nucleotide variant	NM_000138.5(FBN1):c.6740-1G>A	FBN1	Pathogenic	15	48723000	48723000	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392332986
Deletion	NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer)	FBN1	Pathogenic	15	48726797	48726798	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798049
single nucleotide variant	NM_000138.5(FBN1):c.6410G>C (p.Cys2137Ser)	FBN1	Pathogenic	15	48729244	48729244	C	G	criteria provided, single submitter	ClinGen:CA392336647
single nucleotide variant	NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter)	FBN1	Pathogenic	15	48729965	48729965	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392336885
single nucleotide variant	NM_000138.5(FBN1):c.6268G>T (p.Glu2090Ter)	FBN1	Pathogenic	15	48730010	48730010	C	A	criteria provided, single submitter	ClinGen:CA392336984
Deletion	NM_000138.5(FBN1):c.6146_6150del (p.Ser2049fs)	FBN1	Pathogenic	15	48733931	48733935	TTCCAC	T	criteria provided, single submitter	ClinGen:CA658798331
single nucleotide variant	NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp)	FBN1	Likely pathogenic	15	48736808	48736808	A	C	criteria provided, single submitter	ClinGen:CA392339799
single nucleotide variant	NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)	FBN1	Likely pathogenic	15	48736824	48736824	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392339832
single nucleotide variant	NM_000138.5(FBN1):c.5698T>A (p.Cys1900Ser)	FBN1	Likely pathogenic	15	48738993	48738993	A	T	criteria provided, single submitter	ClinGen:CA392341369