マルファン症候群

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.6119G>A (p.Cys2040Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48733962	48733962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016237
single nucleotide variant	NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)	FBN1	Likely pathogenic	15	48729989	48729989	C	A	criteria provided, single submitter	ClinGen:CA016326
single nucleotide variant	NM_000138.5(FBN1):c.6379+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48729518	48729518	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016380
single nucleotide variant	NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)	FBN1	Pathogenic	15	48829901	48829901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016459
Indel	NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs)	FBN1	Likely pathogenic	15	48726891	48726892	AA	C	criteria provided, single submitter	ClinGen:CA016548
Inversion	NM_000138.5(FBN1):c.6617-9_6617-8inv	FBN1	Likely pathogenic	15	48725193	48725194	AG	CT	criteria provided, single submitter	ClinGen:CA282270
single nucleotide variant	NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)	FBN1	Likely pathogenic	15	48725172	48725172	A	C	criteria provided, single submitter	ClinGen:CA016590
single nucleotide variant	NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser)	FBN1	Likely pathogenic	15	48725146	48725146	A	G	criteria provided, single submitter	ClinGen:CA016608
single nucleotide variant	NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	FBN1	Pathogenic/Likely pathogenic	15	48725144	48725144	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016623
single nucleotide variant	NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)	FBN1	Likely pathogenic	15	48722898	48722898	G	A	criteria provided, single submitter	ClinGen:CA016768