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.148G>C (p.Val50Leu)	TTR	Pathogenic	18	29172937	29172937	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256825,UniProtKB:P02766#VAR_007553,OMIM:176300.0024
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.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
single nucleotide variant	NM_000371.4(TTR):c.241G>A (p.Glu81Lys)	TTR	Likely pathogenic	18	29175123	29175123	G	A	criteria provided, single submitter	ClinGen:CA256839,UniProtKB:P02766#VAR_007574,OMIM:176300.0031
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.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.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.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.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.95T>C (p.Leu32Pro)	TTR	Pathogenic	18	29172884	29172884	T	C	criteria provided, single submitter	ClinGen:CA256853,UniProtKB:P02766#VAR_038959,OMIM:176300.0041