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.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.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.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.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.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.229G>A (p.Gly77Arg)	TTR	Pathogenic	18	29175111	29175111	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000371.4(TTR):c.173A>C (p.Asp58Ala)	TTR	Pathogenic	18	29172962	29172962	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000371.4(TTR):c.160A>G (p.Arg54Gly)	TTR	Pathogenic	18	29172949	29172949	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000371.4(TTR):c.220G>A (p.Glu74Lys)	TTR	Pathogenic	18	29175102	29175102	G	A	criteria provided, multiple submitters, no conflicts	-
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	-