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.95T>C (p.Leu32Pro)	TTR	Pathogenic	18	29172884	29172884	T	C	criteria provided, single submitter	ClinGen:CA256853,UniProtKB:P02766#VAR_038959,OMIM:176300.0041
single nucleotide variant	NM_000371.4(TTR):c.112G>A (p.Asp38Asn)	TTR	Pathogenic	18	29172901	29172901	G	A	criteria provided, multiple submitters, no conflicts	-
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.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.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.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.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.148G>A (p.Val50Met)	TTR	Pathogenic	18	29172937	29172937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256790,UniProtKB:P02766#VAR_007554,OMIM:176300.0001
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.149T>C (p.Val50Ala)	TTR	Pathogenic	18	29172938	29172938	T	C	criteria provided, multiple submitters, no conflicts	UniProtKB:P02766#VAR_007552,OMIM:176300.0014,ClinGen:CA256810