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.225del (p.Gly76fs)	FBN1	Pathogenic	15	48905229	48905229	CA	C	criteria provided, single submitter	ClinGen:CA012902
single nucleotide variant	NM_000138.5(FBN1):c.212G>C (p.Trp71Ser)	FBN1	Pathogenic	15	48905242	48905242	C	G	criteria provided, single submitter	ClinGen:CA012802
single nucleotide variant	NM_000138.5(FBN1):c.164+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48936802	48936802	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012362,OMIM:134797.0013
Insertion	NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs)	FBN1	Likely pathogenic	15	48756190	48756191	G	GT	criteria provided, single submitter	ClinGen:CA339659
single nucleotide variant	NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr)	FBN1	Likely pathogenic	15	48719799	48719799	C	T	criteria provided, single submitter	ClinGen:CA350431
single nucleotide variant	NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly)	FBN1	Pathogenic	15	48741081	48741081	T	C	criteria provided, single submitter	ClinGen:CA347974
single nucleotide variant	NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)	FBN1	Likely pathogenic	15	48703464	48703464	A	G	criteria provided, single submitter	ClinGen:CA353635
single nucleotide variant	NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)	FBN1	Pathogenic/Likely pathogenic	15	48704844	48704844	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353671
single nucleotide variant	NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)	FBN1	Pathogenic/Likely pathogenic	15	48712934	48712934	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353648
single nucleotide variant	NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)	FBN1	Likely pathogenic	15	48717598	48717598	T	C	criteria provided, single submitter	ClinGen:CA353668