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.6982C>T (p.Gln2328Ter)	FBN1	Pathogenic	15	48720558	48720558	G	A	criteria provided, single submitter	ClinGen:CA057638
single nucleotide variant	NM_000138.5(FBN1):c.6991T>A (p.Cys2331Ser)	FBN1	Likely pathogenic	15	48720549	48720549	A	T	criteria provided, single submitter	ClinGen:CA10587799
single nucleotide variant	NM_000138.5(FBN1):c.6997+2T>C	FBN1	Pathogenic	15	48720541	48720541	A	G	criteria provided, single submitter	ClinGen:CA392330386
single nucleotide variant	NM_000138.5(FBN1):c.6998-2A>T	FBN1	Pathogenic	15	48719972	48719972	T	A	criteria provided, single submitter	ClinGen:CA392330377
single nucleotide variant	NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)	FBN1	Likely pathogenic	15	48719965	48719965	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter)	FBN1	Pathogenic	15	48719962	48719962	C	A	criteria provided, single submitter	ClinGen:CA392330357
single nucleotide variant	NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg)	FBN1	Pathogenic/Likely pathogenic	15	48719953	48719953	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000138.5(FBN1):c.7016_7031dup (p.Gln2345fs)	FBN1	Pathogenic	15	48719936	48719937	T	TAGCACCTCTGTGAAGC	criteria provided, single submitter	-
Duplication	NM_000138.5(FBN1):c.7037dup (p.Asn2346fs)	FBN1	Pathogenic	15	48719930	48719931	G	GT	criteria provided, single submitter	ClinGen:CA645369662
Deletion	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Pathogenic	15	48719928	48719929	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016944