遺伝性ATTRアミロイドーシス

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000371.4(TTR):c.206C>G (p.Thr69Ser)	TTR	Pathogenic	18	29175088	29175088	C	G	criteria provided, single submitter	ClinGen:CA402156905
single nucleotide variant	NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	TTR	Pathogenic	18	29172919	29172919	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA297519,UniProtKB:P02766#VAR_007551
single nucleotide variant	NM_000371.4(TTR):c.210T>A (p.Ser70Arg)	TTR	Pathogenic	18	29175092	29175092	T	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P02766#VAR_007566,ClinGen:CA260565
single nucleotide variant	NM_000371.4(TTR):c.149T>G (p.Val50Gly)	TTR	Pathogenic	18	29172938	29172938	T	G	criteria provided, single submitter	ClinGen:CA123118,UniProtKB:P02766#VAR_038962,OMIM:176300.0049
single nucleotide variant	NM_000371.4(TTR):c.113A>G (p.Asp38Gly)	TTR	Pathogenic	18	29172902	29172902	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA123114,UniProtKB:P02766#VAR_007549,OMIM:176300.0047
single nucleotide variant	NM_000371.4(TTR):c.95T>C (p.Leu32Pro)	TTR	Pathogenic	18	29172884	29172884	T	C	criteria provided, single submitter	ClinGen:CA256853,UniProtKB:P02766#VAR_038959,OMIM:176300.0041
single nucleotide variant	NM_000371.4(TTR):c.157T>C (p.Phe53Leu)	TTR	Pathogenic	18	29172946	29172946	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256851,UniProtKB:P02766#VAR_007556,OMIM:176300.0040
single nucleotide variant	NM_000371.4(TTR):c.118G>A (p.Val40Ile)	TTR	Pathogenic	18	29172907	29172907	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256849,UniProtKB:P02766#VAR_007550,OMIM:176300.0039
single nucleotide variant	NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	TTR	Pathogenic	18	29175132	29175132	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256847,UniProtKB:P02766#VAR_007575,OMIM:176300.0037
single nucleotide variant	NM_000371.4(TTR):c.200G>C (p.Gly67Ala)	TTR	Pathogenic	18	29172989	29172989	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256845,UniProtKB:P02766#VAR_007561,OMIM:176300.0035