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
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
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.6354C>G (p.Ile2118Met)	FBN1	Likely pathogenic	15	48729544	48729544	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016350
Deletion	NM_000138.5(FBN1):c.5888del (p.Glu1963fs)	FBN1	Likely pathogenic	15	48737602	48737602	CT	C	criteria provided, single submitter	ClinGen:CA016147
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.8473_8475del (p.Gly2825del)	FBN1	Likely pathogenic	15	48703328	48703330	TTCC	T	criteria provided, single submitter	ClinGen:CA017763
single nucleotide variant	NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)	FBN1	Likely pathogenic	15	48779272	48779272	C	G	criteria provided, single submitter	ClinGen:CA014329
single nucleotide variant	NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)	FBN1	Likely pathogenic	15	48782188	48782188	C	G	criteria provided, single submitter	ClinGen:CA013576
single nucleotide variant	NM_000138.5(FBN1):c.164+2T>C	FBN1	Likely pathogenic	15	48936801	48936801	A	G	criteria provided, single submitter	ClinGen:CA012372
single nucleotide variant	NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)	FBN1	Likely pathogenic	15	48737629	48737629	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016122