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.128G>A (p.Ser43Asn)	TTR	Pathogenic/Likely pathogenic	18	29172917	29172917	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000371.4(TTR):c.239C>T (p.Thr80Ile)	TTR	Pathogenic/Likely pathogenic	18	29175121	29175121	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:1012273
single nucleotide variant	NM_000371.4(TTR):c.116C>A (p.Ala39Asp)	TTR	Pathogenic/Likely pathogenic	18	29172905	29172905	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000371.4(TTR):c.244G>A (p.Glu82Lys)	TTR	Pathogenic/Likely pathogenic	18	29175126	29175126	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402156968
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.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.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.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.379A>G (p.Ile127Val)	TTR	Pathogenic/Likely pathogenic	18	29178573	29178573	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256843,UniProtKB:P02766#VAR_007592,OMIM:176300.0034
single nucleotide variant	NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	TTR	Pathogenic/Likely pathogenic	18	29175144	29175144	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256837,UniProtKB:P02766#VAR_007576,OMIM:176300.0030