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.424G>A (p.Val142Ile)	TTR	Pathogenic/Likely pathogenic	18	29178618	29178618	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA214382,UniProtKB:P02766#VAR_007600,OMIM:176300.0009,ClinVar:1012273
single nucleotide variant	NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)	TTR	Pathogenic/Likely pathogenic	18	29178595	29178595	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256794,UniProtKB:P02766#VAR_007595,OMIM:176300.0011
single nucleotide variant	NM_000371.4(TTR):c.391C>A (p.Leu131Met)	TTR	Likely pathogenic	18	29178585	29178585	C	A	criteria provided, single submitter	ClinGen:CA256804,UniProtKB:P02766#VAR_007594,OMIM:176300.0007
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.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.325G>C (p.Glu109Gln)	TTR	Pathogenic	18	29175207	29175207	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256829,UniProtKB:P02766#VAR_007585,OMIM:176300.0026
single nucleotide variant	NM_000371.4(TTR):c.311T>G (p.Ile104Ser)	TTR	Pathogenic	18	29175193	29175193	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256802,UniProtKB:P02766#VAR_007584,OMIM:176300.0006
single nucleotide variant	NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	TTR	Pathogenic/Likely pathogenic	18	29175172	29175172	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256800,UniProtKB:P02766#VAR_007582,OMIM:176300.0005
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.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