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.250T>C (p.Phe84Leu)	TTR	Pathogenic	18	29175132	29175132	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256847,UniProtKB:P02766#VAR_007575,OMIM:176300.0037
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.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.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.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.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.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.229G>A (p.Gly77Arg)	TTR	Pathogenic	18	29175111	29175111	G	A	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.210T>A (p.Ser70Arg)	TTR	Pathogenic	18	29175092	29175092	T	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P02766#VAR_007566,ClinGen:CA260565