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.4675_4718del (p.Lys1559fs)	FBN1	Likely pathogenic	15	48760164	48760207	AGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT	A	criteria provided, single submitter	ClinGen:CA015290
Deletion	NM_000138.5(FBN1):c.5888del (p.Glu1963fs)	FBN1	Likely pathogenic	15	48737602	48737602	CT	C	criteria provided, single submitter	ClinGen:CA016147
single nucleotide variant	NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)	FBN1	Likely pathogenic	15	48729544	48729544	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016350
single nucleotide variant	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1	Pathogenic/Likely pathogenic	15	48712949	48712949	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017354
Indel	NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)	FBN1	Pathogenic	15	48703537	48703538	AA	TCCT	criteria provided, single submitter	ClinGen:CA017652
Deletion	NM_000138.4(FBN1):c.(?_5475)_(5542_?)del	FBN1	Pathogenic	15	48744762	48744829	na	na	criteria provided, single submitter	-
Deletion	NM_000138.4(FBN1):c.(?_4473)_(8280_?)del	FBN1	Pathogenic	15	48703523	48760718	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)	FBN1	Pathogenic/Likely pathogenic	15	48703282	48703282	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017803
single nucleotide variant	NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)	FBN1	Pathogenic	15	48805838	48805838	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012213
Duplication	NM_000138.5(FBN1):c.958dup (p.Tyr320fs)	FBN1	Pathogenic	15	48818356	48818357	T	TA	criteria provided, single submitter	ClinGen:CA017854