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.244G>A (p.Glu82Lys)	TTR	Pathogenic/Likely pathogenic	18	29175126	29175126	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402156968
single nucleotide variant	NM_000371.4(TTR):c.206C>G (p.Thr69Ser)	TTR	Pathogenic	18	29175088	29175088	C	G	criteria provided, single submitter	ClinGen:CA402156905
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.165G>T (p.Lys55Asn)	TTR	Likely pathogenic	18	29172954	29172954	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000371.4(TTR):c.239C>T (p.Thr80Ile)	TTR	Pathogenic/Likely pathogenic	18	29175121	29175121	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:1012273
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.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.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.160A>G (p.Arg54Gly)	TTR	Pathogenic	18	29172949	29172949	A	G	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	-