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.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.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.208A>C (p.Ser70Arg)	TTR	Likely pathogenic	18	29175090	29175090	A	C	criteria provided, single submitter	ClinGen:CA260564,UniProtKB:P02766#VAR_007566
single nucleotide variant	NM_000371.4(TTR):c.236C>A (p.Thr79Lys)	TTR	Likely pathogenic	18	29175118	29175118	C	A	criteria provided, single submitter	ClinGen:CA297521,UniProtKB:P02766#VAR_007572
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.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.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.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
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