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.4082G>A (p.Cys1361Tyr)	FBN1	Pathogenic	15	48766730	48766730	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392320408
Deletion	NM_000138.5(FBN1):c.3947del (p.Gly1316fs)	FBN1	Pathogenic	15	48773869	48773869	TC	T	criteria provided, single submitter	ClinGen:CA658798364
Deletion	NM_000138.5(FBN1):c.3815del (p.Ser1272fs)	FBN1	Pathogenic	15	48776038	48776038	AG	A	criteria provided, single submitter	ClinGen:CA658798366
single nucleotide variant	NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)	FBN1	Pathogenic/Likely pathogenic	15	48777660	48777660	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392324601
single nucleotide variant	NM_000138.5(FBN1):c.3400G>T (p.Gly1134Ter)	FBN1	Pathogenic	15	48779572	48779572	C	A	criteria provided, single submitter	ClinGen:CA392326464
Deletion	NM_000138.5(FBN1):c.3269del (p.Pro1090fs)	FBN1	Pathogenic	15	48780378	48780378	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269532070
single nucleotide variant	NM_000138.5(FBN1):c.3125G>A (p.Gly1042Asp)	FBN1	Likely pathogenic	15	48780648	48780648	C	T	criteria provided, single submitter	ClinGen:CA392328151
single nucleotide variant	NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)	FBN1	Likely pathogenic	15	48780649	48780649	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA392328152
Duplication	NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs)	FBN1	Pathogenic	15	48782229	48782230	G	GCA	criteria provided, single submitter	ClinGen:CA658798373
single nucleotide variant	NM_000138.5(FBN1):c.2740T>G (p.Cys914Gly)	FBN1	Likely pathogenic	15	48784772	48784772	A	C	criteria provided, single submitter	ClinGen:CA392330873