家族性高コレステロール血症 - MGenReviews

家族性高コレステロール血症

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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_000527.5(LDLR):c.919G>C (p.Asp307His)	LDLR	Likely pathogenic	19	11218169	11218169	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585196,LDLR-LOVD, British Heart Foundation:LDLR_001251
single nucleotide variant	NM_000527.5(LDLR):c.921T>G (p.Asp307Glu)	LDLR	Pathogenic/Likely pathogenic	19	11218171	11218171	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585197,LDLR-LOVD, British Heart Foundation:LDLR_000873
single nucleotide variant	NM_000527.5(LDLR):c.922G>A (p.Glu308Lys)	LDLR	Likely pathogenic	19	11218172	11218172	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585198,LDLR-LOVD, British Heart Foundation:LDLR_000135
Deletion	NM_000527.5(LDLR):c.932_933del (p.Lys311fs)	LDLR	Pathogenic	19	11218182	11218183	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585202,LDLR-LOVD, British Heart Foundation:LDLR_001869
Deletion	NM_000527.5(LDLR):c.933del (p.Glu312fs)	LDLR	Pathogenic	19	11218181	11218181	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585203,LDLR-LOVD, British Heart Foundation:LDLR_001870
single nucleotide variant	NM_000527.5(LDLR):c.934G>T (p.Glu312Ter)	LDLR	Pathogenic	19	11218184	11218184	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585204,LDLR-LOVD, British Heart Foundation:LDLR_000835
Deletion	NM_000527.5(LDLR):c.939_940+3del	LDLR	Pathogenic	19	11218186	11218190	AGTGCG	A	criteria provided, single submitter	ClinGen:CA10585206,LDLR-LOVD, British Heart Foundation:LDLR_000914
single nucleotide variant	NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)	LDLR	Likely pathogenic	19	11218187	11218187	T	C	reviewed by expert panel	ClinGen:CA10585207,LDLR-LOVD, British Heart Foundation:LDLR_000136
single nucleotide variant	NM_000527.5(LDLR):c.937T>G (p.Cys313Gly)	LDLR	Likely pathogenic	19	11218187	11218187	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585208,LDLR-LOVD, British Heart Foundation:LDLR_001147
single nucleotide variant	NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)	LDLR	Pathogenic	19	11218189	11218189	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585209,LDLR-LOVD, British Heart Foundation:LDLR_001872

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