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.8605_8606del (p.Leu2869fs)	FBN1	Likely pathogenic	15	48703197	48703198	CAA	C	criteria provided, single submitter	ClinGen:CA017840
single nucleotide variant	NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)	FBN1	Likely pathogenic	15	48703203	48703203	T	G	criteria provided, single submitter	ClinGen:CA017835
single nucleotide variant	NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)	FBN1	Likely pathogenic	15	48703212	48703212	A	G	criteria provided, single submitter	-
Deletion	NM_000138.5(FBN1):c.8561del (p.Leu2854fs)	FBN1	Likely pathogenic	15	48703242	48703242	GA	G	criteria provided, single submitter	ClinGen:CA16614472
Deletion	NM_000138.5(FBN1):c.8544del (p.Lys2848fs)	FBN1	Pathogenic	15	48703259	48703259	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017809
Deletion	NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs)	FBN1	Pathogenic	15	48703259	48703260	ATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798330
single nucleotide variant	NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)	FBN1	Likely pathogenic	15	48703273	48703273	G	A	criteria provided, single submitter	ClinGen:CA392318647
Deletion	NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)	FBN1	Pathogenic	15	48703274	48703278	GGTTAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619937
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
Duplication	NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)	FBN1	Pathogenic	15	48703286	48703287	C	CT	criteria provided, single submitter	-