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.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.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.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.265T>C (p.Tyr89His)	TTR	Pathogenic/Likely pathogenic	18	29175147	29175147	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA123120,UniProtKB:P02766#VAR_007577,OMIM:176300.0050
single nucleotide variant	NM_000371.4(TTR):c.349G>T (p.Ala117Ser)	TTR	Pathogenic/Likely pathogenic	18	29178543	29178543	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256859,UniProtKB:P02766#VAR_038982,OMIM:176300.0052
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.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.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.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.236C>A (p.Thr79Lys)	TTR	Likely pathogenic	18	29175118	29175118	C	A	criteria provided, single submitter	ClinGen:CA297521,UniProtKB:P02766#VAR_007572