遺伝性ATTRアミロイドーシス

小児・神経疾患

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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_000371.4(TTR):c.210T>G (p.Ser70Arg)	TTR	Pathogenic	18	29175092	29175092	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256808,UniProtKB:P02766#VAR_007566,OMIM:176300.0013
single nucleotide variant	NM_000371.4(TTR):c.208A>C (p.Ser70Arg)	TTR	Likely pathogenic	18	29175090	29175090	A	C	criteria provided, single submitter	ClinGen:CA260564,UniProtKB:P02766#VAR_007566
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.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
single nucleotide variant	NM_000371.4(TTR):c.194C>A (p.Ala65Asp)	TTR	Pathogenic/Likely pathogenic	18	29172983	29172983	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA297540,UniProtKB:P02766#VAR_007559
single nucleotide variant	NM_000371.4(TTR):c.191T>C (p.Phe64Ser)	TTR	Pathogenic/Likely pathogenic	18	29172980	29172980	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA123116,UniProtKB:P02766#VAR_038971,OMIM:176300.0045,OMIM:176300.0048
single nucleotide variant	NM_000371.4(TTR):c.173A>C (p.Asp58Ala)	TTR	Pathogenic	18	29172962	29172962	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000371.4(TTR):c.165G>T (p.Lys55Asn)	TTR	Likely pathogenic	18	29172954	29172954	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000371.4(TTR):c.160A>G (p.Arg54Gly)	TTR	Pathogenic	18	29172949	29172949	A	G	criteria provided, single submitter	-
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