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.8080C>T (p.Arg2694Ter)	FBN1	Pathogenic	15	48704912	48704912	G	A	reviewed by expert panel	ClinGen:CA017544
Deletion	NM_000138.5(FBN1):c.8064del (p.Gly2689fs)	FBN1	Pathogenic	15	48704928	48704928	CA	C	criteria provided, single submitter	ClinGen:CA017533
single nucleotide variant	NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg)	FBN1	Pathogenic	15	48704936	48704936	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000138.5(FBN1):c.8051+375G>T	FBN1	Pathogenic	15	48707358	48707358	C	A	criteria provided, single submitter	ClinGen:CA16614382
Deletion	NC_000015.10:g.(?_48415161)_(48468554_?)del	FBN1	Pathogenic	15	48707358	48760751	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_48415161)_(48415777_?)del	FBN1	Pathogenic	15	48707358	48707974	na	na	criteria provided, single submitter	-
Indel	NM_000138.5(FBN1):c.8051_8051+1delinsT	FBN1	Pathogenic	15	48707732	48707733	CC	A	criteria provided, single submitter	ClinGen:CA658798346
Indel	NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)	FBN1	Pathogenic	15	48707733	48707733	C	AA	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)	FBN1	Likely pathogenic	15	48707742	48707742	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392322503
single nucleotide variant	NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)	FBN1	Pathogenic/Likely pathogenic	15	48707746	48707746	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017529