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
Deletion	NM_000138.5(FBN1):c.917del (p.Asn306fs)	FBN1	Pathogenic	15	48818398	48818398	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619976
Deletion	NM_000138.5(FBN1):c.762del (p.Leu256fs)	FBN1	Pathogenic	15	48826377	48826377	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619977
single nucleotide variant	NM_000138.5(FBN1):c.736+1G>A	FBN1	Likely pathogenic	15	48829807	48829807	C	T	criteria provided, single submitter	ClinGen:CA16619978
single nucleotide variant	NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser)	FBN1	Likely pathogenic	15	48704822	48704822	G	A	criteria provided, single submitter	ClinGen:CA392320926
single nucleotide variant	NM_000138.5(FBN1):c.7862C>G (p.Ser2621Cys)	FBN1	Likely pathogenic	15	48707922	48707922	G	C	criteria provided, single submitter	ClinGen:CA392323378
single nucleotide variant	NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)	FBN1	Likely pathogenic	15	48714265	48714265	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392326285
single nucleotide variant	NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)	FBN1	Pathogenic/Likely pathogenic	15	48717617	48717617	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA392327790
single nucleotide variant	NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48736782	48736782	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392339704
single nucleotide variant	NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe)	FBN1	Likely pathogenic	15	48764825	48764825	C	A	criteria provided, single submitter	ClinGen:CA392317902
Deletion	NM_000138.5(FBN1):c.3258del (p.Cys1086fs)	FBN1	Pathogenic	15	48780389	48780389	CA	C	criteria provided, single submitter	ClinGen:CA645293891