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.1850G>A (p.Cys617Tyr)	FBN1	Pathogenic	15	48797332	48797332	C	T	reviewed by expert panel	ClinGen:CA392339186
single nucleotide variant	NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)	FBN1	Pathogenic/Likely pathogenic	15	48807593	48807593	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392343581
single nucleotide variant	NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)	FBN1	Likely pathogenic	15	48805853	48805853	C	G	reviewed by expert panel	ClinGen:CA392342805
Deletion	NM_000138.5(FBN1):c.6450_6454del (p.Cys2151fs)	FBN1	Pathogenic	15	48729200	48729204	TCGCAG	T	criteria provided, single submitter	ClinGen:CA658798051
single nucleotide variant	NM_000138.5(FBN1):c.5672-1G>C	FBN1	Pathogenic	15	48739020	48739020	C	G	criteria provided, single submitter	ClinGen:CA392341462
Deletion	NM_000138.5(FBN1):c.1880_1881del (p.Arg627fs)	FBN1	Pathogenic	15	48797301	48797302	AAC	A	criteria provided, single submitter	ClinGen:CA658798349
Deletion	NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs)	FBN1	Pathogenic	15	48703259	48703260	ATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798330
Deletion	NM_000138.5(FBN1):c.386del (p.Cys129fs)	FBN1	Likely pathogenic	15	48892392	48892392	GC	G	criteria provided, single submitter	ClinGen:CA658798363
Deletion	NM_000138.5(FBN1):c.6596del (p.Gly2199fs)	FBN1	Likely pathogenic	15	48726811	48726811	AC	A	criteria provided, single submitter	ClinGen:CA658798050
Deletion	NM_000138.5(FBN1):c.6037+2_6037+24del	FBN1	Likely pathogenic	15	48736714	48736736	TTGCTACAACTGATAGCTTTCCTA	T	criteria provided, single submitter	ClinGen:CA658798335