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.4531_4534del (p.Cys1511fs)	FBN1	Pathogenic	15	48760657	48760660	TCACA	T	criteria provided, single submitter	ClinGen:CA658656483
single nucleotide variant	NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48773965	48773965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322568
Deletion	NM_000138.5(FBN1):c.3839-5_3842del	FBN1	Likely pathogenic	15	48773974	48773982	GACATCTGTA	G	criteria provided, single submitter	ClinGen:CA658656489
single nucleotide variant	NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter)	FBN1	Pathogenic	15	48780394	48780394	G	A	criteria provided, single submitter	ClinGen:CA392327480
single nucleotide variant	NM_000138.5(FBN1):c.3131G>T (p.Cys1044Phe)	FBN1	Likely pathogenic	15	48780642	48780642	C	A	criteria provided, single submitter	ClinGen:CA392328137
single nucleotide variant	NM_000138.5(FBN1):c.3082G>A (p.Asp1028Asn)	FBN1	Likely pathogenic	15	48782048	48782048	C	T	criteria provided, single submitter	ClinGen:CA392328848
single nucleotide variant	NM_000138.5(FBN1):c.2854+1G>T	FBN1	Pathogenic	15	48784657	48784657	C	A	criteria provided, single submitter	ClinGen:CA269535699
Deletion	NM_000138.5(FBN1):c.2816del (p.Ser939fs)	FBN1	Pathogenic	15	48784696	48784696	AC	A	criteria provided, single submitter	ClinGen:CA658656469
single nucleotide variant	NM_000138.5(FBN1):c.2668T>A (p.Cys890Ser)	FBN1	Pathogenic	15	48787329	48787329	A	T	criteria provided, single submitter	ClinGen:CA392331950
single nucleotide variant	NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter)	FBN1	Pathogenic/Likely pathogenic	15	48802349	48802349	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392341326