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.2524A>T (p.Lys842Ter)	FBN1	Pathogenic	15	48787681	48787681	T	A	criteria provided, single submitter	ClinGen:CA10587847
single nucleotide variant	NM_000138.5(FBN1):c.2375G>T (p.Cys792Phe)	FBN1	Likely pathogenic	15	48788341	48788341	C	A	criteria provided, single submitter	ClinGen:CA10587848
Deletion	NM_000138.5(FBN1):c.2227del (p.Arg743fs)	FBN1	Pathogenic	15	48789529	48789529	CG	C	criteria provided, single submitter	ClinGen:CA10587850
single nucleotide variant	NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)	FBN1	Likely pathogenic	15	48789555	48789555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587853
Indel	NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)	FBN1	Pathogenic	15	48791219	48791222	na	na	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.1211dup (p.Pro405fs)	FBN1	Pathogenic	15	48808495	48808496	T	TG	criteria provided, single submitter	ClinGen:CA10587856
Deletion	NM_000138.5(FBN1):c.1571del (p.Thr524fs)	FBN1	Pathogenic	15	48805763	48805763	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587857
Duplication	NM_000138.5(FBN1):c.1191dup (p.Arg398fs)	FBN1	Pathogenic	15	48808515	48808516	T	TC	criteria provided, single submitter	ClinGen:CA10587858
Insertion	NM_000138.5(FBN1):c.841_842insT (p.Glu281fs)	FBN1	Pathogenic	15	48826297	48826298	T	TA	criteria provided, single submitter	ClinGen:CA10587859
single nucleotide variant	NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)	FBN1	Pathogenic	15	48800809	48800809	G	A	criteria provided, single submitter	ClinGen:CA10587860