遺伝性ATTRアミロイドーシス

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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>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.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.233T>A (p.Leu78His)	TTR	Pathogenic/Likely pathogenic	18	29175115	29175115	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256796,UniProtKB:P02766#VAR_007570,OMIM:176300.0003
single nucleotide variant	NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	TTR	Pathogenic/Likely pathogenic	18	29175120	29175120	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256798,UniProtKB:P02766#VAR_007573,OMIM:176300.0004
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.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.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.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.210T>G (p.Ser70Arg)	TTR	Pathogenic	18	29175092	29175092	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256808,UniProtKB:P02766#VAR_007566,OMIM:176300.0013
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